PMIDOWN STATDA IS IS VI DP TI -

24397319 NLM In-Process 20140113 1471-2377 (Electronic) 1471-2377 (Linking) 14 2014 Exome sequencing reveals a novel TTC19 mutation in an autosomal recessive spinocerebellar ataxia patient. PG - 5 LID - 10.1186/1471-2377-14-5 [doi] AB - BACKGROUND: Spinocerebellar ataxias (SCAs) are heterogeneous diseases characterized by progressive cerebellar ataxia associated with dysarthria, oculomotor abnormalities, and mental impairment. To identify the causative gene, we performed exome sequencing on a Japanese patient clinically diagnosed w ith recessive SCA. METHOD: The patient is a 37-year-old Japanese woman with consanguineous parents. The head magnetic resonance imaging (MRI) showed cerebellar atrophy and T1 low/T2 high intensity at the bilateral inferior olives. Single-nucleotide polymorphism (SNP) genotyping and next-generation sequen cing were performed, and the variants obtained were filtered and prioritized. R ESULTS: After these manipulations, we identified a homozygous nonsense mutation of the TTC19 gene (p.Q277*). TTC19 has been reported to be a causative gene of a neurodegenerative disease in Italian and Portuguese families and to be inv olved in the pathogenesis of mitochondrial respiratory chain complex III (cIII) deficiency. This report is the first description of a TTC19 mutation in an Asian population. Clinical symptoms and neuroimaging are consistent with previou s reports. The head MRI already showed abnormal features four years before h er blood lactate and pyruvate levels were elevated. CONCLUSIONS: We should co nsider the genetic analysis of TTC19 when we observe such characteristic MRI abnormalities. Genes associated with mitochondrial function cause many typ es of SCAs; the mutation we identified should help to elucidate the pathology of these disorders. FAU - Morino, Hiroyuki AU - Morino H AD - Department of Epidemiology, Research Institute for Radiation Biology and Medicine, Hiroshima University, 1-2-3, Kasumi, Minami-ku, Hiroshima 734-85 53, Japan. morino@hiroshima-u.ac.jp. FAU - Miyamoto, Ryosuke AU - Miyamoto R FAU - Ohnishi, Shizuo AU - Ohnishi S FAU - Maruyama, Hirofumi AU - Maruyama H FAU - Kawakami, Hideshi AU - Kawakami H

LA PT PT DEP PL TA JT JID SB PMC OID EDATMHDACRDTPHSTPHSTPHSTAID AID PST SO -

eng Journal Article Research Support, Non-U.S. Gov't 20140107 England BMC Neurol BMC neurology 100968555 IM PMC3890717 NLM: PMC3890717 2014/01/09 06:00 2014/01/09 06:00 2014/01/09 06:00 2013/09/06 [received] 2014/01/02 [accepted] 2014/01/07 [aheadofprint] 1471-2377-14-5 [pii] 10.1186/1471-2377-14-5 [doi] epublish BMC Neurol. 2014 Jan 7;14:5. doi: 10.1186/1471-2377-14-5.

PMID- 23546812 OWN - NLM STAT- PubMed-not-MEDLINE DA - 20130827 DCOM- 20130827 LR - 20130829 IS - 2192-8304 (Print) IS - 2192-8304 (Linking) VI - 11 DP - 2013 TI - Motor and speech disorders in classic galactosemia. PG - 31-41 LID - 10.1007/8904_2013_219 [doi] AB - Purpose To test the hypothesis that children with classic galactosemia and speech disorders are at risk for co-occurring strength and coordination disorders . Method This is a case-control study of 32 children (66% male) with galacto semia and neurologic speech disorders and 130 controls (50% male) ages 4-16 year s. Speech was assessed using the Percentage of Consonants Correct (PCC) metri c from responses to the Goldman-Fristoe Test of Articulation-2 and from a 5-min r ecorded speech sample, hand and tongue strength using the Iowa Oral Performance Instrument, and coordination using the Movement Assessment Battery for Chi ldren. The number of days on milk during the neonatal period was obtained by pare nt report. Analyses of covariance, distributions, and correlations were used to evaluate relationships among speech, strength, coordination, age, gender, and days on milk. Results Children with galactosemia had weaker hand and tongu e strength and most (66%) had significant coordination disorders, primarily affecting balance and manual dexterity. Among children with galactosemia,

children with more speech errors and classified as childhood apraxia of sp eech (n = 7) and ataxic dysarthria (n = 1), had poorer balance and manual dexterit y, but not weaker hand or tongue strength, compared to the children with fewer sp eech errors. The number of days on milk during the neonatal period was associat ed with more speech errors in males but not in females. Conclusion Children with galactosemia have a high prevalence of co-occurring speech, coordination, and strength disorders, which may be evidence of a common underlying etiology, likely associated with diffuse cerebellar damage, rather than distinct disorders. FAU - Potter, Nancy L AU - Potter NL AD - Department of Speech and Hearing Sciences, Washington State University Spo kane, 412 E. Spokane Falls Blvd., Spokane, WA, 99202-2131, USA, nlpotter@wsu.edu . FAU - Nievergelt, Yves AU - Nievergelt Y FAU - Shriberg, Lawrence D AU - Shriberg LD LA - eng PT - Journal Article DEP - 20130402 PL - Germany TA - JIMD Rep JT - JIMD reports JID - 101568557 PMC - PMC3755563 OID - NLM: PMC3755563 EDAT- 2013/04/03 06:00 MHDA- 2013/04/03 06:01 CRDT- 2013/04/03 06:00 PHST- 2012/12/31 [received] PHST- 2013/02/19 [accepted] PHST- 2013/02/15 [revised] PHST- 2013/04/02 [aheadofprint] AID - 10.1007/8904_2013_219 [doi] PST - ppublish SO - JIMD Rep. 2013;11:31-41. doi: 10.1007/8904_2013_219. Epub 2013 Apr 2. PMIDOWN STATDA DCOMLR IS IS VI IP DP TI 23468819 NLM MEDLINE 20130307 20131122 20131203 1866-0452 (Electronic) 1866-0452 (Linking) 110 7 2013 Feb Who receives rehabilitation after stroke?: Data from the quality assurance project "Stroke Register Northwest Germany". PG - 101-7 LID - 10.3238/arztebl.2013.0101 [doi] AB - BACKGROUND: Neurological rehabilitation after stroke lowers rates of death

, dependency, and institutionalization. Little research has yet addressed th e factors affecting the selection of ischemic stroke patients for rehabilita tive treatment. METHOD: The database for this study consisted of all cases of i schemic stroke (ICD-10 code I63) that occurred in 2010 and 2011 in the neurologica l inpatient care facilities participating in the "Stroke Register Northwest Germany" quality assurance project. A primary target group for rehabilitat ion was defined a priori (Barthel Index at discharge </= 65, no premorbid nursing dependency, no transfer to another acute-care hospital after initial treat ment of stroke). Among these patients, factors potentially affecting the provision of rehabilitative treatment were studied with binary logistic regression and multilevel logistic regression. RESULTS: There were 96 955 cases of ischem ic stroke in the 127 participating hospitals. 40.8% and 11.4% of these patien ts underwent neurological and geriatric rehabilitation, respectively. The pri mary target group for rehabilitation contained 14 486 patients, 14.9% of whom underwent no rehabilitation after their acute treatment. The chances of undergoing subsequent rehabilitation were higher for patients with paresis and dysarthria on admission. Female sex, older age, impaired consciousness at admission, prior history of stroke, and lack of counseling by the hospital social services were all associated with a lower probability of undergoing rehabilitation. CONCLUSION: In this study, 54.4% of all ischemic stroke pa tients and 85.1% of all patients in a primary target group for rehabilitation tha t was defined a priori underwent rehabilitation after acute care for stroke. Old er patients and those who had had a previous stroke were less likely to under go rehabilitation. Counseling by hospital social services increased the proba bility of rehabilitation. The potential exclusion of stroke patients from rehabil itation because of old age should be critically examined in every relevant case. FAU - Unrath, Michael AU - Unrath M AD - Institute of Epidemiology and Social Medicine, University of Munster, Germ any. unrathm@uni-muenster.de FAU - Kalic, Marianne AU - Kalic M FAU - Berger, Klaus AU - Berger K LA - eng PT - Journal Article DEP - 20130215 PL - Germany TA - Dtsch Arztebl Int JT - Deutsches Arzteblatt international

JID SB CIN CIN MH MH MH MH MH MH MH MH MH MH MH MH MH MH MH MH PMC OID EDATMHDACRDTPHSTPHSTPHSTAID PST SO Epub PMIDOWN STATDA DCOMIS IS VI IP DP TI -

101475967 IM Dtsch Arztebl Int. 2013 Jun;110(26):459. PMID: 23885282 Dtsch Arztebl Int. 2013 Jun;110(26):459. PMID: 23885281 Age Distribution Aged Aged, 80 and over Comorbidity Directive Counseling/*utilization Female Germany/epidemiology Health Care Rationing/*utilization Humans Male Middle Aged Nervous System Diseases/*epidemiology/rehabilitation *Registries Rehabilitation/*statistics & numerical data Sex Distribution Stroke/*epidemiology/*rehabilitation PMC3585451 NLM: PMC3585451 2013/03/08 06:00 2013/12/16 06:00 2013/03/08 06:00 2012/06/08 [received] 2012/11/15 [accepted] 2013/02/15 [epublish] 10.3238/arztebl.2013.0101 [doi] ppublish Dtsch Arztebl Int. 2013 Feb;110(7):101-7. doi: 10.3238/arztebl.2013.0101. 2013 Feb 15. 23378215 NLM MEDLINE 20130215 20130410 1460-2156 (Electronic) 0006-8950 (Linking) 136 Pt 2 2013 Feb Functional magnetic resonance imaging of chronic dysarthric speech after childhood brain injury: reliance on a left-hemisphere compensatory network

. PG - 646-57 LID - 10.1093/brain/aws355 [doi] AB - Severe and persistent speech disorder, dysarthria, may be present for life after brain injury in childhood, yet the neural correlates of this chronic disor der remain elusive. Although abundant literature is available on language reorganization after lesions in childhood, little is known about the capac ity of motor speech networks to reorganize after injury. Here, we examine the str uctural and functional neural correlates associated with chronic dysarthria after childhood-onset traumatic brain injury. Forty-nine participants aged 12 ye

ars 3 months to 24 years 11 months were recruited to the study: (i) a group with chronic dysarthria (n = 17); matched for age and sex with two control grou ps of (ii) healthy control subjects (n = 17); and (iii) individuals without dysa rthria after traumatic brain injury (n = 15). A high-resolution 3D T(1)-weighted whole-brain data set was acquired for voxel-based morphometry analyses of group differences in grey matter. Functional magnetic resonance imaging was used to localize activation associated with speaking single words (baseline: liste ning to words). Group differences on voxel-based morphometry revealed widespread g rey matter reductions in the dysarthric group compared with healthy control su bjects, including in numerous speech motor regions bilaterally, such as the cerebe llum, the basal ganglia and primary motor cortex representation of the articulat ors. Relative to the non-dysarthric traumatic brain injury group, individuals w ith dysarthria showed reduced grey matter bilaterally in the ventral sensorimo tor cortex, but this reduction was concomitant with increased functional activ ation only in the left-hemisphere cluster during speech. Finally, increased recr uitment of Broca's area (Brodmann area 45, pars triangularis) but not its right homologue, correlated with better speech outcome, suggesting that this 'higher-level' area may be more critically involved with production when associated motor speech regions are damaged. We suggest that the bilateral morphological abnormalities within cortical speech networks in childhood prevented reorganization of speech function from the left- to right-hemisp here. Rather, functional reorganization involved over-recruitment of left-hemisp here motor regions, a reorganization method that was only partly relatively eff ective, given the presence of persisting yet mild speech deficits. The bilateral structural abnormalities found to limit functional reorganization here, ma y also be critical to poor speech prognosis for populations with congenital, degenerative or acquired neurological disorders throughout the lifespan. FAU - Morgan, Angela T AU - Morgan AT AD - Murdoch Childrens Research Institute, Flemington Road, Parkville, Victoria 3052, Australia. angela.morgan@mcri.edu.au FAU - Masterton, Richard AU - Masterton R FAU - Pigdon, Lauren AU - Pigdon L FAU - Connelly, Alan AU - Connelly A FAU - Liegeois, Frederique J AU - Liegeois FJ LA - eng PT - Journal Article

PT DEP PL TA JT JID SB SB MH MH MH MH MH MH MH MH MH MH MH MH MH MH EDATMHDACRDTPHSTAID AID PST SO 31. PMIDOWN STATDA DCOMLR IS IS VI IP DP TI ondon

Research Support, Non-U.S. Gov't 20130131 England Brain Brain : a journal of neurology 0372537 AIM IM Adolescent Adult Brain Injuries/*diagnosis/epidemiology/physiopathology Cerebrum/*physiology Child Dysarthria/*diagnosis/epidemiology/physiopathology Functional Laterality/*physiology Humans *Magnetic Resonance Imaging/methods Nerve Net/*physiology Neuronal Plasticity/physiology Single-Blind Method Speech/physiology Young Adult 2013/02/05 06:00 2013/04/11 06:00 2013/02/05 06:00 2013/01/31 [aheadofprint] aws355 [pii] 10.1093/brain/aws355 [doi] ppublish Brain. 2013 Feb;136(Pt 2):646-57. doi: 10.1093/brain/aws355. Epub 2013 Jan 23370202 NLM MEDLINE 20130226 20130620 20140314 1524-4628 (Electronic) 0039-2499 (Linking) 44 3 2013 Mar Incidence and associations of poststroke epilepsy: the prospective South L

Stroke Register. PG - 605-11 LID - 10.1161/STROKEAHA.111.000220 [doi] AB - BACKGROUND AND PURPOSE: To describe the epidemiology and associations of poststroke epilepsy (PSE) because there is limited evidence to inform clin icians and guide future research. METHODS: Data were collected from the populatio n-based South London Stroke Register of first strokes in a multiethnic inner-city population with a maximum follow-up of 12 years. Self-completed forms and interviews notified study organizers of epilepsy diagnosis. Kaplan-Meier m ethods and Cox models were used to assess associations with sociodemographic fact ors, clinical features, stroke subtype, and severity markers. RESULTS: Three th

ousand three-hundred ten patients with no history of epilepsy presented with firs t stroke between 1995 and 2007, with a mean follow-up of 3.8 years. Two-hund red thirteen subjects (6.4%) had development of PSE. PSE incidence at 3 months and 1, 5, and 10 years were estimated at 1.5%, 3.5%, 9.0%, and 12.4%, respectivel y. Sex, ethnicity, and socioeconomic status were not associations, but markers of cortical location, including dysphasia, visual neglect, and field defect, along with stroke severity indices at presentation, including low Glasgow Coma S cale, incontinence, or poor function on Barthel Index, were associated with PSE on univariate analysis. Young age was independently associated with PSE, affe cting 10.7% of patients aged <65 years and 1.6% >85 years (P</=0.001) on 10-year estimates. Independent predictors of PSE also included visual neglect, dys phasia, and stroke subtype, particularly total anterior circulation infarcts. Dysa rthria was associated with reduced incidence. CONCLUSIONS: PSE is common, with ri sk continuing to increase outside the acute phase. Young age, cortical locati on, larger lesions, and hemorrhagic lesions are independent predictors. FAU - Graham, Neil S N AU - Graham NS AD - Department of Ageing and Health, St Thomas' Hospital, London, UK. nsngraham@nhs.net FAU - Crichton, Siobhan AU - Crichton S FAU - Koutroumanidis, Michael AU - Koutroumanidis M FAU - Wolfe, Charles D A AU - Wolfe CD FAU - Rudd, Anthony G AU - Rudd AG LA - eng GR - RP-PG-0407-10184/Department of Health/United Kingdom PT - Journal Article PT - Research Support, Non-U.S. Gov't DEP - 20130131 PL - United States TA - Stroke JT - Stroke; a journal of cerebral circulation JID - 0235266 SB - IM MH - African Continental Ancestry Group MH - Age Factors MH - Aged MH - Aged, 80 and over MH - Cerebral Cortex/pathology MH - Epilepsy/*epidemiology/ethnology/*pathology MH - European Continental Ancestry Group MH - Female MH - Follow-Up Studies MH - Glasgow Coma Scale

MH MH MH MH MH MH MH MH MH EDATMHDACRDTPHSTAID AID PST SO 3 Jan PMIDOWN STATDA DCOMIS IS VI IP DP TI e PG FAU AU FAU AU FAU AU FAU AU FAU AU FAU AU LA PT PT TT mer PL TA JT JID SB MH MH MH -

Humans Incidence Kaplan-Meier Estimate London Male Proportional Hazards Models Prospective Studies *Registries Stroke/*complications/ethnology/*pathology 2013/02/02 06:00 2013/06/21 06:00 2013/02/02 06:00 2013/01/31 [aheadofprint] STROKEAHA.111.000220 [pii] 10.1161/STROKEAHA.111.000220 [doi] ppublish Stroke. 2013 Mar;44(3):605-11. doi: 10.1161/STROKEAHA.111.000220. Epub 201 31. 23359082 NLM MEDLINE 20130129 20130715 1576-6578 (Electronic) 0210-0010 (Linking) 56 3 2013 Feb 1 [Simultaneous myasthenia gravis and Guillain-Barre syndrome: the first cas reported in Spain]. 190-1 Roche, J C Roche JC Gimenez-Munoz, A Gimenez-Munoz A Campello-Morer, I Campello-Morer I Garcia-Gomara, M J Garcia-Gomara MJ Perez-Trullen, J M Perez-Trullen JM Sanchez-Valiente, S Sanchez-Valiente S spa Case Reports Letter Coincidencia temporal de miastenia grave y sindrome de Guillain-Barre: pri caso publicado en Espana. Spain Rev Neurol Revista de neurologia 7706841 IM Aged, 80 and over Blepharoptosis/etiology Comorbidity

MH MH MH MH MH MH MH MH MH MH EDATMHDACRDTAID PST SO PMIDOWN STATDA DCOMLR IS IS VI IP DP TI a

Deglutition Disorders/etiology Dysarthria/etiology Fatal Outcome Female Guillain-Barre Syndrome/*complications/diagnosis/epidemiology Humans Legionnaires' Disease/complications Myasthenia Gravis/*complications/epidemiology Neural Conduction Spain/epidemiology 2013/01/30 06:00 2013/07/17 06:00 2013/01/30 06:00 rn2012508 [pii] ppublish Rev Neurol. 2013 Feb 1;56(3):190-1. 23250882 NLM MEDLINE 20121219 20130215 20140224 1460-2156 (Electronic) 0006-8950 (Linking) 135 Pt 12 2012 Dec What is influencing the phenotype of the common homozygous polymerase-gamm

mutation p.Ala467Thr? PG - 3614-26 LID - 10.1093/brain/aws298 [doi] AB - Polymerase-gamma (POLG) is a major human disease gene and may account for up to 25% of all mitochondrial diseases in the UK and in Italy. To date, >150 di fferent pathogenic mutations have been described in POLG. Some mutations behave as both dominant and recessive alleles, but an autosomal recessive inheritance pat tern is much more common. The most frequently detected pathogenic POLG mutation in the Caucasian population is c.1399G>A leading to a p.Ala467Thr missense mutati on in the linker domain of the protein. Although many patients are homozygous fo r this mutation, clinical presentation is highly variable, ranging from childhood -onset Alpers-Huttenlocher syndrome to adult-onset sensory ataxic neuropathy dysa rthria and ophthalmoparesis. The reasons for this are not clear, but familial clu stering of phenotypes suggests that modifying factors may influence the clinical manifestation. In this study, we collected clinical, histological and bioc hemical data from 68 patients carrying the homozygous p.Ala467Thr mutation from ei ght diagnostic centres in Europe and the USA. We performed DNA analysis in 44 of

these patients to search for a genetic modifier within POLG and flanking r egions potentially involved in the regulation of gene expression, and extended ou r analysis to other genes affecting mitochondrial DNA maintenance (POLG2, PE O1 and ANT1). The clinical presentation included almost the entire phenotypic spe ctrum of all known POLG mutations. Interestingly, the clinical presentation was similar in siblings, implying a genetic basis for the phenotypic variability among st homozygotes. However, the p.Ala467Thr allele was present on a shared haplo type in each affected individual, and there was no correlation between the clinica l presentation and genetic variants in any of the analysed nuclear genes. Pa tients with mitochondrial DNA haplogroup U developed epilepsy significantly less frequently than patients with any other mitochondrial DNA haplotype. Epile psy was reported significantly more frequently in females than in males, and also showed an association with one of the chromosomal markers defining the POLG haplo type. In conclusion, our clinical results show that the homozygous p.Ala467Thr P OLG mutation does not cause discrete phenotypes, as previously suggested, but rather there is a continuum of clinical symptoms. Our results suggest that the mitochondrial DNA background plays an important role in modifying the dise ase phenotype but nuclear modifiers, epigenetic and environmental factors may also influence the severity of disease. FAU - Neeve, Vivienne C M AU - Neeve VC AD - Institute of Genetic Medicine, Newcastle University, Central Parkway, Newc astle upon Tyne NE1 3BZ, UK. FAU - Samuels, David C AU - Samuels DC FAU - Bindoff, Laurence A AU - Bindoff LA FAU - van den Bosch, Bianca AU - van den Bosch B FAU - Van Goethem, Gert AU - Van Goethem G FAU - Smeets, Hubert AU - Smeets H FAU - Lombes, Anne AU - Lombes A FAU - Jardel, Claude AU - Jardel C FAU - Hirano, Michio AU - Hirano M FAU - Dimauro, Salvatore AU - Dimauro S FAU - De Vries, Maaike AU - De Vries M

FAU AU FAU AU FAU AU FAU AU FAU AU FAU AU FAU AU FAU AU FAU AU FAU AU FAU AU FAU AU FAU AU FAU AU FAU AU FAU AU LA GR GR GR GR GR PT PT PT PT PL TA JT JID RN RN RN RN SB SB MH MH MH MH MH MH MH MH

Smeitink, Jan Smeitink J Smits, Bart W Smits BW de Coo, Ireneus F M de Coo IF Saft, Carsten Saft C Klopstock, Thomas Klopstock T Keiling, Bianca-Cortina Keiling BC Czermin, Birgit Czermin B Abicht, Angela Abicht A Lochmuller, Hanns Lochmuller H Hudson, Gavin Hudson G Gorman, Grainne G Gorman GG Turnbull, Doug M Turnbull DM Taylor, Robert W Taylor RW Holinski-Feder, Elke Holinski-Feder E Chinnery, Patrick F Chinnery PF Horvath, Rita Horvath R eng 01GM0862/GM/NIGMS NIH HHS/United States 096919/Wellcome Trust/United Kingdom 906919/Wellcome Trust/United Kingdom G1000848/Medical Research Council/United Kingdom GM073744/GM/NIGMS NIH HHS/United States Journal Article Multicenter Study Research Support, N.I.H., Extramural Research Support, Non-U.S. Gov't England Brain Brain : a journal of neurology 0372537 2ZD004190S (Threonine) EC 2.7.7.- (POLG protein, human) EC 2.7.7.7 (DNA-Directed DNA Polymerase) OF5P57N2ZX (Alanine) AIM IM Adolescent Adult Age of Onset Alanine/genetics Child Cohort Studies DNA Mutational Analysis DNA-Directed DNA Polymerase/*genetics

MH MH MH MH MH MH MH MH MH MH MH MH MH MH MH MH MH PMC OID EDATMHDACRDTAID AID PST SO PMIDOWN STATDA DCOMLR IS IS VI IP DP TI ke: a PG LID LID AB ic -

Diffuse Cerebral Sclerosis of Schilder/*genetics/mortality Europe *Family Health Female Genetic Predisposition to Disease/*genetics Homozygote Humans Male Middle Aged Mitochondrial Diseases/*genetics/mortality Muscle, Skeletal/pathology Mutation/*genetics Ophthalmoplegia, Chronic Progressive External/*genetics/mortality Statistics as Topic Statistics, Nonparametric Threonine/genetics Young Adult PMC3525059 NLM: PMC3525059 2012/12/20 06:00 2013/02/16 06:00 2012/12/20 06:00 aws298 [pii] 10.1093/brain/aws298 [doi] ppublish Brain. 2012 Dec;135(Pt 12):3614-26. doi: 10.1093/brain/aws298. 23206553 NLM MEDLINE 20121214 20130208 20131114 1474-4465 (Electronic) 1474-4422 (Linking) 12 1 2013 Jan Transient isolated brainstem symptoms preceding posterior circulation stro population-based study. 65-71 10.1016/S1474-4422(12)70299-5 [doi] S1474-4422(12)70299-5 [pii] BACKGROUND: Transient isolated brainstem symptoms (eg, isolated vertigo, dysarthria, diplopia) are not consistently classified as transient ischaem attacks (TIAs) and data for prognosis are limited. If some of these transi

ent neurological attacks (TNAs) are due to vertebrobasilar ischaemia, then the y should be common during the days and weeks preceding posterior circulation strokes. We aimed to assess the frequency of TNAs before vertebrobasilar ischaemic stroke. METHODS: We studied all potential ischaemic events durin g the 90 days preceding an ischaemic stroke in patients ascertained within a prospective, population-based incidence study in Oxfordshire, UK (Oxford V ascular Study; 2002-2010) and compared rates of TNA preceding vertebrobasilar stro ke

versus carotid stroke. We classified the brainstem symptoms isolated verti go, vertigo with non-focal symptoms, isolated double vision, transient general ised weakness, and binocular visual disturbance as TNAs in the vertebrobasilar territory; atypical amaurosis fugax and limb-shaking as TNAs in the caroti d territory; and isolated slurred speech, migraine variants, transient confu sion, and hemisensory tingling symptoms as TNAs in uncertain territory. FINDINGS : Of the 1141 patients with ischaemic stroke, vascular territory was categorisa ble in 1034 (91%) cases, with 275 vertebrobasilar strokes and 759 carotid strokes . Isolated brainstem TNAs were more frequent before a vertebrobasilar stroke (45 of 275 events) than before a carotid stroke (10 of 759; OR 14.7, 95% CI 7.3-2 9.5, p<0.0001), particularly during the preceding 2 days (22 of 252 before a vertebrobasilar stroke vs two of 751 before a carotid stroke, OR 35.8, 8.4 -153.5, p<0.0001). Of all 59 TNAs preceding (median 4 days, IQR 1-30) vertebrobasi lar stroke, only five (8%) fulfilled the National Institute of Neurological Di sorders and Stroke (NINDS) criteria for TIA. The other 54 cases were isolated vert igo (n=23), non-NINDS binocular visual disturbance (n=9), vertigo with other non-focal symptoms (n=10), isolated slurred speech, hemisensory tingling, or diplopia (n=8), and non-focal events (n=4). Only 10 (22%) of the 45 patien ts with isolated brainstem TNAs sought medical attention before the stroke and a v ascular cause was suspected by their physician in only one of these cases. INTERPRETATION: In patients with definite vertebrobasilar stroke, precedin g transient isolated brainstem symptoms are common, but most symptoms do not satisfy traditional definitions of TIA. More studies of the prognosis of transient isolated brainstem symptoms are required. FUNDING: Wellcome Trus t, UK Medical Research Council, Dunhill Medical Trust, Stroke Association, Natio nal Institute for Health Research (NIHR), Thames Valley Primary Care Research Partnership, and the NIHR Biomedical Research Centre, Oxford. CI - Copyright (c) 2013 Elsevier Ltd. All rights reserved. FAU - Paul, Nicola L M AU - Paul NL AD - Stroke Prevention Research Unit, Nuffield Department of Clinical Neuroscie nces, John Radcliffe Hospital, Oxford, UK. FAU - Simoni, Michela AU - Simoni M FAU - Rothwell, Peter M AU - Rothwell PM CN - Oxford Vascular Study LA - eng GR - 095626/Wellcome Trust/United Kingdom GR - G0500987/Medical Research Council/United Kingdom

GR GR GR GR PT PT DEP PL TA JT JID SB CIN MH MH MH MH MH MH MH MH MH MH MH PMC OID EDATMHDACRDTPHSTAID AID PST SO pub PMIDOWN STATDA DCOMLR IS IS VI DP TI -

OSRP2/1006/The Dunhill Medical Trust/United Kingdom RP-PG-0606-1146/Department of Health/United Kingdom Medical Research Council/United Kingdom Wellcome Trust/United Kingdom Journal Article Research Support, Non-U.S. Gov't 20121201 England Lancet Neurol Lancet neurology 101139309 IM Lancet Neurol. 2013 Jan;12(1):29-30. PMID: 23206552 Aged Aged, 80 and over Brain Infarction/diagnosis/*epidemiology/*etiology Female Humans Ischemic Attack, Transient/*complications/diagnosis/*epidemiology Male Middle Aged Population Surveillance/*methods Prospective Studies Vertebrobasilar Insufficiency/complications/diagnosis/epidemiology PMC3530272 NLM: PMC3530272 2012/12/05 06:00 2013/02/09 06:00 2012/12/05 06:00 2012/12/01 [aheadofprint] S1474-4422(12)70299-5 [pii] 10.1016/S1474-4422(12)70299-5 [doi] ppublish Lancet Neurol. 2013 Jan;12(1):65-71. doi: 10.1016/S1474-4422(12)70299-5. E 2012 Dec 1.

23039766 NLM MEDLINE 20130124 20130621 20131114 1750-1172 (Electronic) 1750-1172 (Linking) 7 2012 Dysphagia as a risk factor for mortality in Niemann-Pick disease type C: systematic literature review and evidence from studies with miglustat. PG - 76 LID - 10.1186/1750-1172-7-76 [doi] AB - Niemann-Pick disease type C (NP-C) is a rare neurovisceral disease charact erised by progressive neurological deterioration and premature death, and has an estimated birth incidence of 1:120,000. Mutations in the NPC1 gene (in 95% of cases) and the NPC2 gene (in approximately 4% of cases) give rise to impai red intracellular lipid metabolism in a number of tissues, including the brain .

Typical neurological manifestations include vertical supranuclear gaze pal sy, saccadic eye movement abnormalities, cerebellar ataxia, dystonia, dysmetri a, dysphagia and dysarthria. Oropharyngeal dysphagia can be particularly prob lematic as it can often lead to food or fluid aspiration and subsequent pneumonia. Epidemiological data suggest that bronchopneumonia subsequent to food or f luid aspiration is a major cause of mortality in NP-C and other neurodegenerati ve disorders. These findings indicate that a therapy capable of improving or stabilising swallowing function might reduce the risk of aspiration pneumo nia, and could have a positive impact on patient survival. Miglustat, currently the only approved disease-specific therapy for NP-C in children and adults, ha s been shown to stabilise key neurological manifestations in NP-C, including dysp hagia. In this article we present findings from a systematic literature review of published data on bronchopneumonia/aspiration pneumonia as a cause of deat h, and on the occurrence of dysphagia in NP-C and other neurodegenerative disease s. We then examine the potential links between dysphagia, aspiration, pneumonia and mortality with a view to assessing the possible effect of miglustat on pat ient lifespan. FAU - Walterfang, Mark AU - Walterfang M AD - Royal Melbourne Hospital and Melbourne Neuropsychiatry Centre, Melbourne, Australia. mark.walterfang@mh.org.au FAU - Chien, Yin-Hsiu AU - Chien YH FAU - Imrie, Jackie AU - Imrie J FAU - Rushton, Derren AU - Rushton D FAU - Schubiger, Danielle AU - Schubiger D FAU - Patterson, Marc C AU - Patterson MC LA - eng PT - Journal Article PT - Research Support, Non-U.S. Gov't PT - Review DEP - 20121006 PL - England TA - Orphanet J Rare Dis JT - Orphanet journal of rare diseases JID - 101266602 RN - 0 (miglustat) RN - 19130-96-2 (1-Deoxynojirimycin) SB - IM MH - 1-Deoxynojirimycin/*analogs & derivatives/therapeutic use MH - Animals MH - Deglutition Disorders/*complications/mortality MH - Humans

MH ty PMC OID EDATMHDACRDTPHSTPHSTPHSTAID AID PST SO PMIDOWN STATDA DCOMLR IS IS VI IP DP TI with

Niemann-Pick Disease, Type C/*diagnosis/*drug therapy/epidemiology/mortali PMC3552828 NLM: PMC3552828 2012/10/09 06:00 2013/06/26 06:00 2012/10/09 06:00 2012/05/12 [received] 2012/09/24 [accepted] 2012/10/06 [aheadofprint] 1750-1172-7-76 [pii] 10.1186/1750-1172-7-76 [doi] epublish Orphanet J Rare Dis. 2012 Oct 6;7:76. doi: 10.1186/1750-1172-7-76. 22527240 NLM MEDLINE 20121031 20130822 20131107 1432-1459 (Electronic) 0340-5354 (Linking) 259 11 2012 Nov Prognostic value of decreased tongue strength on survival time in patients

amyotrophic lateral sclerosis. PG - 2360-5 LID - 10.1007/s00415-012-6503-9 [doi] AB - Decreased tongue strength (TS) might herald bulbar involvement in patients with amyotrophic lateral sclerosis (ALS) well before dysarthria or dysphagia oc cur, and as such might be prognostic of short survival. The purpose of this stu dy was to investigate the prognostic value of a decreased TS, in addition to othe r prognostic factors, such as site of onset, bulbar symptoms, bulbar signs, age, sex, maximum phonation time, time from symptoms to diagnosis, and gastrost omy, for survival time in patients with ALS. TS was measured in four directions in 111 patients who attended the diagnostic outpatient motor neuron clinic of our university hospital. Of these patients, 54 were diagnosed with ALS. TS was considered abnormal if the strength in minimally one direction was at leas t two standard deviations below the reference values obtained from comparable ag e category and sex-groups of healthy controls (n = 119). Twenty of the patie nts with ALS had a decreased TS. Multivariable analysis showed that, in additi on to age, TS was an independent prognostic factor for survival time in patients with ALS. FAU - Weikamp, J G AU - Weikamp JG

AD - Department of Rehabilitation (898), Nijmegen Centre for Evidence Based Pra ctice, Radboud University Nijmegen Medical Centre, P.O. Box 9101, 6500 HB, Nijmeg en, The Netherlands. J.Weikamp@reval.umcn.nl FAU - Schelhaas, H J AU - Schelhaas HJ FAU - Hendriks, J C M AU - Hendriks JC FAU - de Swart, B J M AU - de Swart BJ FAU - Geurts, A C H AU - Geurts AC LA - eng PT - Journal Article DEP - 20120424 PL - Germany TA - J Neurol JT - Journal of neurology JID - 0423161 SB - IM MH - Adolescent MH - Adult MH - Aged MH - Aged, 80 and over MH - Amyotrophic Lateral Sclerosis/*diagnosis/mortality/*physiopathology MH - *Disease Progression MH - Electromyography/trends MH - Humans MH - Middle Aged MH - Muscle Strength/*physiology MH - Prognosis MH - Prospective Studies MH - Survival Rate/trends MH - Tongue/*physiopathology MH - Young Adult PMC - PMC3484270 OID - NLM: PMC3484270 EDAT- 2012/04/25 06:00 MHDA- 2013/08/24 06:00 CRDT- 2012/04/25 06:00 PHST- 2012/01/21 [received] PHST- 2012/03/27 [accepted] PHST- 2012/03/27 [revised] PHST- 2012/04/24 [aheadofprint] AID - 10.1007/s00415-012-6503-9 [doi] PST - ppublish SO - J Neurol. 2012 Nov;259(11):2360-5. doi: 10.1007/s00415-012-6503-9. Epub 20 12 Apr 24. PMIDOWN STATDA DCOMLR IS IS VI 22228725 NLM MEDLINE 20120308 20120427 20131015 1468-330X (Electronic) 0022-3050 (Linking) 83

IP - 4 DP - 2012 Apr TI - Autopsy confirmed multiple system atrophy cases: Mayo experience and role of autonomic function tests. PG - 453-9 LID - 10.1136/jnnp-2011-301068 [doi] AB - BACKGROUND: Multiple system atrophy (MSA) is a sporadic progressive neurodegenerative disorder characterised by autonomic failure, manifested as orthostatic hypotension or urogenital dysfunction, with combinations of parkinsonism that is poorly responsive to levodopa, cerebellar ataxia and corticospinal dysfunction. Published autopsy confirmed cases have provided reasonable neurological characterisation but have lacked adequate autonomi c function testing. OBJECTIVES: To retrospectively evaluate if the autonomic characterisation of MSA is accurate in autopsy confirmed MSA and if consen sus criteria are validated by autopsy confirmation. METHODS: 29 autopsy confir med cases of MSA evaluated at the Mayo Clinic who had undergone formalised aut onomic testing, including adrenergic, sudomotor and cardiovagal functions and Thermoregulatory Sweat Test (TST), from which the Composite Autonomic Seve rity Score (CASS) was derived, were included in the study. RESULTS: Patient characteristics: 17 men, 12 women; age of onset 57+/-8.1 years; disease du ration to death 6.5+/-3.3 years; first symptom autonomic in 18, parkinsonism in s even and cerebellar in two. Clinical phenotype at first visit was MSA-P (predom inant parkinsonism) in 18, MSA-C (predominant cerebellar involvement) in eight, pure autonomic failure in two and Parkinson's disease in one. Clinical diagnosi s at last visit was MSA for 28 cases. Autonomic failure was severe: CASS was 7. 2+/-2.3 (maximum 10). TST% was 65.6+/-33.9% and exceeded 30% in 82% of patients. T he most common pattern was global anhidrosis. Norepinephrine was normal supine (203.6+/-112.7) but orthostatic increment of 33.5+/-23.2% was reduced. Fou r clinical features (rapid progression, early postural instability, poor lev odopa responsiveness and symmetric involvement) were common. CONCLUSION: The pat tern of severe and progressive generalised autonomic failure with severe adrenergi c and sudomotor failure combined with the clinical phenotype is highly predictiv e of MSA. FAU - Iodice, Valeria AU - Iodice V AD - Neurovascular and Autonomic Medicine Unit, Imperial College London, UK. FAU - Lipp, Axel AU - Lipp A FAU - Ahlskog, J Eric AU - Ahlskog JE FAU - Sandroni, Paola

AU FAU AU FAU AU FAU AU FAU AU FAU AU FAU AU FAU AU FAU AU FAU AU FAU AU FAU AU FAU AU FAU AU FAU AU LA GR GR GR GR GR GR GR PT PT PT PT PT DEP PL TA JT JID RN SB MH MH MH MH MH MH MH MH MH MH MH

Sandroni P Fealey, Robert D Fealey RD Parisi, Joseph E Parisi JE Matsumoto, Joseph Y Matsumoto JY Benarroch, Eduardo E Benarroch EE Kimpinski, Kurt Kimpinski K Singer, Wolfgang Singer W Gehrking, Tonette L Gehrking TL Gehrking, Jade A Gehrking JA Sletten, David M Sletten DM Schmeichel, Ann M Schmeichel AM Bower, James H Bower JH Gilman, Sid Gilman S Figueroa, Juan Figueroa J Low, Phillip A Low PA eng NS 44233/NS/NINDS NIH HHS/United States NS32352/NS/NINDS NIH HHS/United States P01 NS044233/NS/NINDS NIH HHS/United States P50 NS032352/NS/NINDS NIH HHS/United States U54 NS065736/NS/NINDS NIH HHS/United States U54 NS065736/NS/NINDS NIH HHS/United States UL1 RR24150/RR/NCRR NIH HHS/United States Case Reports Journal Article Research Support, N.I.H., Extramural Research Support, Non-U.S. Gov't Validation Studies 20120106 England J Neurol Neurosurg Psychiatry Journal of neurology, neurosurgery, and psychiatry 2985191R 0 (Catecholamines) IM Age of Onset Aged Ataxia/epidemiology Autonomic Nervous System/physiopathology Autopsy Body Temperature Regulation Catecholamines/blood Comorbidity Diagnosis, Differential Diagnostic Errors Dysarthria/epidemiology

MH MH MH MH MH MH MH MH MH MH MH PMC MID OID OID EDATMHDACRDTPHSTAID AID PST SO PMIDOWN STATDA DCOMLR IS IS VI IP DP TI al e

Female Humans Hypohidrosis/epidemiology Magnetic Resonance Imaging Male Middle Aged Multiple System Atrophy/diagnosis/*epidemiology/*pathology/physiopathology Nystagmus, Pathologic/epidemiology Phenotype Retrospective Studies Shy-Drager Syndrome/diagnosis/*epidemiology/*pathology PMC3454474 NIHMS406186 NLM: NIHMS406186 NLM: PMC3454474 2012/01/10 06:00 2012/04/28 06:00 2012/01/10 06:00 2012/01/06 [aheadofprint] jnnp-2011-301068 [pii] 10.1136/jnnp-2011-301068 [doi] ppublish J Neurol Neurosurg Psychiatry. 2012 Apr;83(4):453-9. doi: 10.1136/jnnp-2011-301068. Epub 2012 Jan 6. 22152722 NLM PubMed-not-MEDLINE 20120105 20121002 20121109 1752-1947 (Electronic) 1752-1947 (Linking) 5 1 2011 Severe brain atrophy after long-term survival seen in siblings with famili amyotrophic lateral sclerosis and a mutation in the optineurin gene: a cas

series. - 573 - 10.1186/1752-1947-5-573 [doi] - INTRODUCTION: Previous studies have shown widespread multisystem degenerat in patients with sporadic amyotrophic lateral sclerosis who develop a total locked-in state and survive under mechanical ventilation for a prolonged p eriod of time. However, the disease progressions reported in these studies were several years after disease onset. There have been no reports of long-term followup with brain imaging of patients with familial amyotrophic lateral sclerosis at a n advanced stage of the disease. We report the cases of siblings with amyotr ophic lateral sclerosis with homozygous deletions of the exon 5 mutation of the gene encoding optineurin, in whom brain computed tomography scans were followed up for PG LID AB ion

more than 20 years. CASE PRESENTATION: The patients were a Japanese brothe r and sister. The elder sister was 33 years of age at the onset of disease, whic h began with muscle weakness of her left lower limb. Two years later she required mechanical ventilation. She became bedridden at the age of 34, and died at the age of 57. A computed tomography scan of her brain at the age of 36 reveal ed no abnormality. Atrophy of her brain gradually progressed. Ten years after th e onset of mechanical ventilation, atrophy of her whole brain, including the cereb ral cortex, brain stem and cerebellum, markedly progressed. Her younger brothe r was 36 years of age at the onset of disease, which presented as muscle weaknes s of his left upper limb. One year later, he showed dysphagia and dysarthria, a nd tracheostomy ventilation was performed. He became bedridden at the age of 37 and died at the age of 55. There were no abnormal intracranial findings on bra in computed tomography scans obtained at the age of 37 years. At the age of 4 8 years, computed tomography scans showed marked brain atrophy with ventricu lar dilatation. Subsequently, atrophy of the whole brain rapidly progressed as in his elder sister. CONCLUSION: We conclude that a homozygous deletion-type muta tion in the optineurin gene may be associated with widespread multisystem degenera tion in amyotrophic lateral sclerosis. FAU - Ueno, Hiroki AU - Ueno H AD - Department of Epidemiology, Research Institute for Radiation Biology and Medicine, Hiroshima University, Hiroshima, Japan. hmaru@hiroshima-u.ac.jp. FAU - Kobatake, Keitaro AU - Kobatake K FAU - Matsumoto, Masayasu AU - Matsumoto M FAU - Morino, Hiroyuki AU - Morino H FAU - Maruyama, Hirofumi AU - Maruyama H FAU - Kawakami, Hideshi AU - Kawakami H LA - eng PT - Journal Article DEP - 20111212 PL - England TA - J Med Case Rep JT - Journal of medical case reports JID - 101293382 PMC - PMC3251630 OID - NLM: PMC3251630 EDAT- 2011/12/14 06:00 MHDA- 2011/12/14 06:01 CRDT- 2011/12/14 06:00

PHSTPHSTPHSTAID AID PST SO PMIDOWN STATDA DCOMIS IS VI DP TI PG LID AB ML) isual

2011/09/07 [received] 2011/12/12 [accepted] 2011/12/12 [aheadofprint] 1752-1947-5-573 [pii] 10.1186/1752-1947-5-573 [doi] epublish J Med Case Rep. 2011 Dec 12;5(1):573. doi: 10.1186/1752-1947-5-573. 22123935 NLM MEDLINE 20111129 20120418 1939-2869 (Electronic) 0891-1150 (Linking) 78 Suppl 2 2011 Nov The clinical features of PML. S8-12 10.3949/ccjm.78.s2.03 [doi] The symptoms associated with progressive multifocal leukoencephalopathy (P reflect the location of pathologic brain lesions. These symptoms include v deficits, cognitive impairment, and motor weakness; in patients with acqui

red immunodeficiency syndrome (AIDS), presenting signs can also include gait disturbance, dysarthria, dysphasia, and ocular palsy. Recently, PML has be en observed in patients treated with biologic agents; natalizumab recipients currently represent the second largest group of patients with PML (behind patients with AIDS). Although brain biopsy is the most accurate and reliab le method for diagnosing PML, it is rarely used today. Diagnosis is usually b ased on detection of JC virus in the cerebrospinal fluid by polymerase chain react ion, the clinical presentation, and demonstration of PML brain lesions on magne tic resonance imaging. With immune reconstitution, the prognosis of PML has im proved markedly. FAU - Berger, Joseph R AU - Berger JR AD - Department of Neurology, University of Kentucky Medical Center, KY Clinic (Wing D) - L445, Lexington, KY 40536-0284, USA. jrbneuro@email.uky.edu LA - eng PT - Journal Article PT - Review PL - United States TA - Cleve Clin J Med JT - Cleveland Clinic journal of medicine JID - 8703441 RN - 0 (Antibodies, Monoclonal, Humanized) RN - 0 (DNA, Viral) RN - 0 (natalizumab) SB - IM MH - AIDS-Related Opportunistic Infections/cerebrospinal fluid/*diagnosis/epide miology

MH MH MH MH MH MH

MH MH MH EDATMHDACRDTAID AID PST SO PMIDOWN STATDA DCOMLR IS IS VI IP DP TI ome. PG LID AB th come.

Antibodies, Monoclonal, Humanized/adverse effects Cognition Disorders/etiology DNA, Viral/*cerebrospinal fluid Humans Immune Reconstitution Inflammatory Syndrome/complications Leukoencephalopathy, Progressive Multifocal/cerebrospinal fluid/*diagnosis/epidemiology Magnetic Resonance Imaging Muscle Weakness/etiology Vision Disorders/etiology 2011/12/14 06:00 2012/04/19 06:00 2011/11/30 06:00 78/Suppl_2/S8 [pii] 10.3949/ccjm.78.s2.03 [doi] ppublish Cleve Clin J Med. 2011 Nov;78 Suppl 2:S8-12. doi: 10.3949/ccjm.78.s2.03. 21997578 NLM MEDLINE 20111028 20111220 20131213 1942-5546 (Electronic) 0025-6196 (Linking) 86 11 2011 Nov Clinical and radiologic correlations of central pontine myelinolysis syndr 1063-7 10.4065/mcp.2011.0239 [doi] OBJECTIVE: To characterize clinical and radiologic features of patients wi central pontine myelinolysis (CPM) and identify variables that predict out

PATIENTS AND METHODS: We retrospectively studied patients diagnosed as hav ing CPM identified by a search of Mayo Clinic medical records from January 1, 1999 , through December 31, 2010. Diagnosis was made by clinical and radiologic features. Favorable outcome was defined by a modified Rankin Scale score o f 2 or lower. Volume of signal abnormality on brain magnetic resonance imaging (M RI) was quantified by a neuroradiologist blinded to outcomes. Wilcoxon rank sum te sts were used to assess association between volume of signal abnormality and o utcomes at discharge and last follow-up. RESULTS: Of 24 patients, 14 (58%) had onl y CPM, and 10 (42%) had extrapontine involvement. Hyponatremia was documented in 18 patients (75%), with median sodium nadir of 114 mmol/L. Eighteen patients (75%) had alcoholism, and malnutrition was documented in 12 (50%). Presenting sy mptoms included encephalopathy (n=18 [75%]), ataxia (n=11 [46%]), dysarthria (n=7 [29%]), eye movement abnormalities (n=6 [25%]), and seizures (n=5 [21%]).

Favorable outcome was seen in 15 patients (63%) at last follow-up. Finding s on initial brain MRI were normal in 5 patients, but all MRI scans were abnorm al with serial imaging. The volume of radiologic signal abnormality was not associ ated with outcome at discharge or last follow-up (P=.67 and P=.37, respectively ). CONCLUSION: Clinical outcome in patients with CPM is not predicted by the volume of radiologic T2 signal abnormality on MRI or the severity of hyponatremia . Serial brain imaging is of value because a substantial proportion of patie nts have normal findings on initial MRI. FAU - Graff-Radford, Jonathan AU - Graff-Radford J AD - Department of Neurology, Mayo Clinic, Rochester, MN 55905, USA. FAU - Fugate, Jennifer E AU - Fugate JE FAU - Kaufmann, Timothy J AU - Kaufmann TJ FAU - Mandrekar, Jay N AU - Mandrekar JN FAU - Rabinstein, Alejandro A AU - Rabinstein AA LA - eng PT - Journal Article DEP - 20111013 PL - England TA - Mayo Clin Proc JT - Mayo Clinic proceedings JID - 0405543 RN - 9NEZ333N27 (Sodium) SB - AIM SB - IM MH - Adult MH - Aged MH - Aged, 80 and over MH - Alcoholism/epidemiology MH - Brain/radiography MH - Comorbidity MH - Female MH - Humans MH - Hyponatremia/epidemiology MH - Magnetic Resonance Imaging MH - Male MH - Malnutrition/epidemiology MH - Middle Aged MH - Myelinolysis, Central Pontine/blood/*diagnosis/epidemiology/radiography MH - Pons/radiography MH - Retrospective Studies MH - Sodium/blood MH - Tomography, X-Ray Computed PMC - PMC3202996 OID - NLM: PMC3202996 EDAT- 2011/10/15 06:00 MHDA- 2011/12/21 06:00 CRDT- 2011/10/15 06:00 PHST- 2011/10/13 [aheadofprint]

AID AID PST SO 011

- S0025-6196(11)65195-1 [pii] - 10.4065/mcp.2011.0239 [doi] - ppublish - Mayo Clin Proc. 2011 Nov;86(11):1063-7. doi: 10.4065/mcp.2011.0239. Epub 2 Oct 13. 21619691 NLM MEDLINE 20110627 20111018 20131017 1750-1172 (Electronic) 1750-1172 (Linking) 6 2011 Autosomal dominant cerebellar ataxia type I: a review of the phenotypic an

PMIDOWN STATDA DCOMLR IS IS VI DP TI d

genotypic characteristics. PG - 33 LID - 10.1186/1750-1172-6-33 [doi] AB - Type I autosomal dominant cerebellar ataxia (ADCA) is a type of spinocereb ellar ataxia (SCA) characterized by ataxia with other neurological signs, includ ing oculomotor disturbances, cognitive deficits, pyramidal and extrapyramidal dysfunction, bulbar, spinal and peripheral nervous system involvement. The global prevalence of this disease is not known. The most common type I ADCA is SC A3 followed by SCA2, SCA1, and SCA8, in descending order. Founder effects no doubt contribute to the variable prevalence between populations. Onset is usuall y in adulthood but cases of presentation in childhood have been reported. Clini cal features vary depending on the SCA subtype but by definition include ataxi a associated with other neurological manifestations. The clinical spectrum r anges from pure cerebellar signs to constellations including spinal cord and per ipheral nerve disease, cognitive impairment, cerebellar or supranuclear ophthalmol ogic signs, psychiatric problems, and seizures. Cerebellar ataxia can affect vi rtually any body part causing movement abnormalities. Gait, truncal, and limb atax ia are often the most obvious cerebellar findings though nystagmus, saccadic abnormalities, and dysarthria are usually associated. To date, 21 subtypes have been identified: SCA1-SCA4, SCA8, SCA10, SCA12-SCA14, SCA15/16, SCA17-SCA2 3, SCA25, SCA27, SCA28 and dentatorubral pallidoluysian atrophy (DRPLA). Type I ADCA can be further divided based on the proposed pathogenetic mechanism into 3 subclasses: subclass 1 includes type I ADCA caused by CAG repeat expansion s such as SCA1-SCA3, SCA17, and DRPLA, subclass 2 includes trinucleotide repeat

expansions that fall outside of the protein-coding regions of the disease gene including SCA8, SCA10 and SCA12. Subclass 3 contains disorders caused by s pecific gene deletions, missense mutation, and nonsense mutation and includes SCA1 3, SCA14, SCA15/16, SCA27 and SCA28. Diagnosis is based on clinical history, physical examination, genetic molecular testing, and exclusion of other di seases. Differential diagnosis is broad and includes secondary ataxias caused by d rug or toxic effects, nutritional deficiencies, endocrinopathies, infections and post-infection states, structural abnormalities, paraneoplastic conditions and certain neurodegenerative disorders. Given the autosomal dominant pattern of inheritance, genetic counseling is essential and best performed in special ized genetic clinics. There are currently no known effective treatments to modi fy disease progression. Care is therefore supportive. Occupational and physic al therapy for gait dysfunction and speech therapy for dysarthria is essentia l. Prognosis is variable depending on the type of ADCA and even among kindred s. FAU - Whaley, Nathaniel Robb AU - Whaley NR AD - Tri State Mountain Neurology, 105 Woodlawn Dr, Johnson City, TN 27604, USA . FAU - Fujioka, Shinsuke AU - Fujioka S FAU - Wszolek, Zbigniew K AU - Wszolek ZK LA - eng GR - 1RC2 NS070276/NS/NINDS NIH HHS/United States GR - P50 NS 072187/NS/NINDS NIH HHS/United States GR - R01 NS057567/NS/NINDS NIH HHS/United States PT - Journal Article PT - Research Support, N.I.H., Extramural PT - Research Support, Non-U.S. Gov't PT - Review DEP - 20110528 PL - England TA - Orphanet J Rare Dis JT - Orphanet journal of rare diseases JID - 101266602 RN - Spinocerebellar ataxia 13 SB - IM MH - Genotype MH - Humans MH - Phenotype MH - Spinocerebellar Degenerations/*genetics/*pathology PMC - PMC3123548 OID - NLM: PMC3123548 EDAT- 2011/05/31 06:00 MHDA- 2011/10/19 06:00 CRDT- 2011/05/31 06:00 PHST- 2009/07/07 [received] PHST- 2011/05/28 [accepted]

PHSTAID AID PST SO PMIDOWN STATDA DCOMLR IS IS VI IP DP TI lytic

2011/05/28 [aheadofprint] 1750-1172-6-33 [pii] 10.1186/1750-1172-6-33 [doi] epublish Orphanet J Rare Dis. 2011 May 28;6:33. doi: 10.1186/1750-1172-6-33. 21350199 NLM MEDLINE 20110329 20110531 20140220 1524-4628 (Electronic) 0039-2499 (Linking) 42 4 2011 Apr Home time is extended in patients with ischemic stroke who receive thrombo

therapy: a validation study of home time as an outcome measure. PG - 1046-50 LID - 10.1161/STROKEAHA.110.601302 [doi] AB - BACKGROUND AND PURPOSE: "Home time" (HT) refers to the number of days over the first 90 after stroke onset that a patient spends residing in their own ho me or a relative's home versus any institutional care. It is an accessible and obj ective parameter, free from subjective bias, with potential as an outcome measure in acute stroke trials. We sought to validate HT and assess treatment respons iveness using independent data. METHODS: We estimated HT in the Stroke Acute Ische mic NXY Treatment (SAINT) I neuroprotection trial. We compared outcomes between thrombolyzed (T) and nonthrombolyzed comparators (C) using HT and the modi fied Rankin Scale. For our primary analysis, we adjusted for baseline covariate s that significantly influence HT and in sensitivity analyses considered all vari ables that differed between groups at baseline. We report ordinal logistic regre ssion and analysis of covariance with 95% CIs. We describe the relationship of H T with baseline National Institutes of Health Stroke Scale and its components and with Day 90 modified Rankin Scale and Barthel Index. RESULTS: SAINT I included 1699 patients from 23 countries, of whom 28.7% received alteplase. HT correlate d with age, baseline severity, alteplase use, side of ischemic lesion, presence o f diabetes, and country of patient enrollment (each P<0.05). We found an association between use of alteplase with better adjusted outcomes by eith er measure (OR for extended HT, 1.36; 95% CI, 1.08 to 1.72; P=0.009; analysis of covariance P=0.007 with a 5.5-day advantage; OR for more favorable modifie d

Rankin Scale, 1.6; 95% CI, 1.28 to 2.00; P<0.0001; Cochran-Mantel-Haenszel P=0.046). HT was significantly associated with baseline National Institute s of Health Stroke Scale and each component of the National Institutes of Healt h Stroke Scale except level of consciousness, dysarthria, and ataxia. HT was significantly associated with Day 90 modified Rankin Scale and Barthel Ind ex. CONCLUSIONS: HT is a responsive measure for use in multinational acute str oke trials. Its inclusion as a complementary outcome is reasonable. We propose treatment effects are adjusted for age, baseline National Institutes of He alth Stroke Scale, side of stroke lesion, country of enrollment, and the presen ce of diabetes. FAU - Mishra, Nishant K AU - Mishra NK AD - Acute Stroke Unit, University of Glasgow, University Department of Medicin e and Therapeutics, Gardiner Institute, Western Infirmary & Faculty of Medicine, University of Glasgow, Glasgow, UK G11 6NT. 0808124@clinmed.gla.ac.uk FAU - Shuaib, Ashfaq AU - Shuaib A FAU - Lyden, Patrick AU - Lyden P FAU - Diener, Hans-Christoph AU - Diener HC FAU - Grotta, James AU - Grotta J FAU - Davis, Stephen AU - Davis S FAU - Davalos, Antoni AU - Davalos A FAU - Ashwood, Tim AU - Ashwood T FAU - Wasiewski, Warren AU - Wasiewski W FAU - Lees, Kennedy R AU - Lees KR CN - Stroke Acute Ischemic NXY Treatment I Trialists LA - eng GR - CZB/4/595/Chief Scientist Office/United Kingdom PT - Clinical Trial, Phase I PT - Comparative Study PT - Journal Article PT - Randomized Controlled Trial PT - Research Support, Non-U.S. Gov't PT - Validation Studies DEP - 20110224 PL - United States TA - Stroke JT - Stroke; a journal of cerebral circulation JID - 0235266 RN - 0 (Fibrinolytic Agents) SB - IM MH - Aged MH - Brain Ischemia/*drug therapy/mortality/nursing MH - Cohort Studies MH - Female

MH - Fibrinolytic Agents/therapeutic use MH - Home Care Services MH - Hospitalization MH - Humans MH - *Length of Stay/trends MH - Male MH - Middle Aged MH - Outcome Assessment (Health Care)/*methods/trends MH - Recovery of Function/drug effects/physiology MH - Stroke/*drug therapy/mortality/nursing MH - Thrombolytic Therapy/*methods MH - Time Factors MH - Treatment Outcome EDAT- 2011/02/26 06:00 MHDA- 2011/06/01 06:00 CRDT- 2011/02/26 06:00 PHST- 2011/02/24 [aheadofprint] AID - STROKEAHA.110.601302 [pii] AID - 10.1161/STROKEAHA.110.601302 [doi] PST - ppublish SO - Stroke. 2011 Apr;42(4):1046-50. doi: 10.1161/STROKEAHA.110.601302. Epub 20 11 Feb 24. PMIDOWN STATDA DCOMLR IS IS VI IP DP TI 20966389 NLM MEDLINE 20110404 20110729 20131021 1558-9102 (Electronic) 1092-4388 (Linking) 54 2 2011 Apr Prevalence and phenotype of childhood apraxia of speech in youth with galactosemia. PG - 487-519 LID - 10.1044/1092-4388(2010/10-0068) [doi] AB - PURPOSE: In this article, the authors address the hypothesis that the seve re and persistent speech disorder reported in persons with galactosemia meets contemporary diagnostic criteria for childhood apraxia of speech (CAS). A positive finding for CAS in this rare metabolic disorder has the potential to impact treatment of persons with galactosemia and inform explanatory persp ectives on CAS in neurological, neurodevelopmental, and idiopathic contexts. METHO D: Thirty-three youth with galactosemia and significant prior or persistent s peech sound disorder were assessed in their homes in 17 states. Participants com pleted a protocol yielding information on their cognitive, structural, sensorimot or, language, speech, prosody, and voice status and function. RESULTS: Eight o f the 33 participants (24%) met contemporary diagnostic criteria for CAS. Two participants, 1 of whom was among the 8 with CAS, met criteria for ataxic or

hyperkinetic dysarthria. Groupwise findings for the remaining 24 participa nts are consistent with a classification category termed Motor Speech Disorder-Not Otherwise Specified (Shriberg, Fourakis et al., 2010a). CONCLUSION: The au thors estimate the prevalence of CAS in galactosemia at 18 per hundred-180 times the estimated risk for idiopathic CAS. Findings support the need to study risk factors for the high occurrence of motor speech disorders in galactosemia despite early compliant dietary management. FAU - Shriberg, Lawrence D AU - Shriberg LD AD - Waisman Center, Madison, WI, USA. shriberg@waisman.wisc.edu FAU - Potter, Nancy L AU - Potter NL FAU - Strand, Edythe A AU - Strand EA LA - eng GR - DC000496/DC/NIDCD NIH HHS/United States GR - HD03352/HD/NICHD NIH HHS/United States GR - R01 DC000496-22/DC/NIDCD NIH HHS/United States GR - R01 DC000496-23/DC/NIDCD NIH HHS/United States GR - R01 DC000496-24/DC/NIDCD NIH HHS/United States PT - Journal Article PT - Research Support, N.I.H., Extramural DEP - 20101021 PL - United States TA - J Speech Lang Hear Res JT - Journal of speech, language, and hearing research : JSLHR JID - 9705610 SB - IM MH - Adolescent MH - Adult MH - Apraxias/*diagnosis/*epidemiology MH - Child MH - Child, Preschool MH - Cognition MH - Galactosemias/diet therapy/*epidemiology/genetics MH - Genes, Recessive MH - Genotype MH - Humans MH - Phenotype MH - Phonetics MH - Prevalence MH - Risk Factors MH - Speech Disorders/*diagnosis/*epidemiology MH - Speech Production Measurement MH - Young Adult PMC - PMC3070858 MID - NIHMS238267 OID - NLM: NIHMS238267 OID - NLM: PMC3070858 EDAT- 2010/10/23 06:00 MHDA- 2011/07/30 06:00 CRDT- 2010/10/23 06:00 PHST- 2010/10/21 [aheadofprint] AID - 1092-4388_2010_10-0068 [pii] AID - 10.1044/1092-4388(2010/10-0068) [doi] PST - ppublish

SO - J Speech Lang Hear Res. 2011 Apr;54(2):487-519. doi: 10.1044/1092-4388(2010/10-0068). Epub 2010 Oct 21. PMID- 20831378 OWN - NLM STAT- MEDLINE DA - 20100913 DCOM- 20101230 LR - 20131022 IS - 1464-5076 (Electronic) IS - 0269-9206 (Linking) VI - 24 IP - 10 DP - 2010 Oct TI - Extensions to the Speech Disorders Classification System (SDCS). PG - 795-824 LID - 10.3109/02699206.2010.503006 [doi] AB - This report describes three extensions to a classification system for paed iatric speech sound disorders termed the Speech Disorders Classification System ( SDCS). Part I describes a classification extension to the SDCS to differentiate m otor speech disorders from speech delay and to differentiate among three sub-ty pes of motor speech disorders. Part II describes the Madison Speech Assessment Pr otocol (MSAP), an approximately 2-hour battery of 25 measures that includes 15 sp eech tests and tasks. Part III describes the Competence, Precision, and Stabili ty Analytics (CPSA) framework, a current set of approximately 90 perceptualand acoustic-based indices of speech, prosody, and voice used to quantify and classify sub-types of Speech Sound Disorders (SSD). A companion paper prov ides reliability estimates for the perceptual and acoustic data reduction metho ds used in the SDCS. The agreement estimates in the companion paper support the reliability of SDCS methods and illustrate the complementary roles of perc eptual and acoustic methods in diagnostic analyses of SSD of unknown origin. Exam ples of research using the extensions to the SDCS described in the present report include diagnostic findings for a sample of youth with motor speech disorders asso ciated with galactosemia, and a test of the hypothesis of apraxia of speech in a group of children with autism spectrum disorders. All SDCS methods and reference databases running in the PEPPER (Programs to Examine Phonetic and Phonolog ic Evaluation Records) environment will be disseminated without cost when com plete. FAU - Shriberg, Lawrence D AU - Shriberg LD AD - Waisman Center, University of Wisconsin-Madison, Madison, WI, USA. shriberg@waisman.wisc.edu FAU - Fourakis, Marios AU - Fourakis M

FAU AU FAU AU FAU AU FAU AU FAU AU FAU AU FAU AU FAU AU FAU AU LA GR GR GR GR PT PT PL TA JT JID SB MH MH MH MH MH MH MH MH MH MH MH PMC MID OID OID EDATMHDACRDTAID PST SO 3006. PMIDOWN STATDA DCOMLR IS -

Hall, Sheryl D Hall SD Karlsson, Heather B Karlsson HB Lohmeier, Heather L Lohmeier HL McSweeny, Jane L McSweeny JL Potter, Nancy L Potter NL Scheer-Cohen, Alison R Scheer-Cohen AR Strand, Edythe A Strand EA Tilkens, Christie M Tilkens CM Wilson, David L Wilson DL eng DC000496/DC/NIDCD NIH HHS/United States HD03352/HD/NICHD NIH HHS/United States R01 DC000496-22/DC/NIDCD NIH HHS/United States R01 DC000496-23/DC/NIDCD NIH HHS/United States Journal Article Research Support, N.I.H., Extramural England Clin Linguist Phon Clinical linguistics & phonetics 8802622 IM Apraxias/epidemiology/genetics Child Child Development Disorders, Pervasive/epidemiology/genetics Dysarthria/*classification/diagnosis/*epidemiology Galactosemias/epidemiology/genetics Humans Language Development Disorders/epidemiology/genetics *Phonetics Risk Factors Speech Disorders/*classification/diagnosis/epidemiology Speech Production Measurement PMC2941221 NIHMS231310 NLM: NIHMS231310 NLM: PMC2941221 2010/09/14 06:00 2010/12/31 06:00 2010/09/14 06:00 10.3109/02699206.2010.503006 [doi] ppublish Clin Linguist Phon. 2010 Oct;24(10):795-824. doi: 10.3109/02699206.2010.50 20739256 NLM MEDLINE 20100826 20101109 20131121 1760-1703 (Print)

IS - 1760-1703 (Linking) VI - 8 IP - 3 DP - 2010 Sep TI - [Multiple system atrophy]. PG - 179-91 LID - 10.1684/pnv.2010.0212 [doi] AB - Multiple system atrophy (MSA) is a sporadic neurodegenerative disorder of unknown etiology. It is the most frequent disorder among atypical parkinsonism wit h an estimated prevalence of 2 to 5 per 100 000 inhabitants. The clinical sympt oms are rapidly progressing with a mean survival ranging between 6 to 9 years. The diagnosis is based on consensus criteria that have been revised in 2008. T he diagnostic criteria allow defining "possible", "probable" and "definite" M SA. The latter requires post mortem confirmation of striatonigral and olivopontocerebellar degeneration with alpha-synuclein containing glial cytoplasmic inclusions. The diagnosis of "possible" and "probable" MSA is based on the variable presence and severity of parkinsonism, cerebellar dysfunct ion, autonomic failure and pyramidal signs. According to the revised criteria, atrophy of putamen, pons, middle cerebellar peduncle (MCP) or cerebellum on brain magnetic resonance imaging are considered to be additional features for th e diagnosis of "possible" MSA. T2-weighted brain imaging may further reveal a putaminal hypointensity, a hyperintense lateral putaminal rim, the so call ed "hot cross bun sign" and MCP hyperintensities. Cardiovascular examination, urod ynamic testing and anal sphincter electromyography may be helpful for the diagnos is of autonomic failure. Some patients may respond to levodopa, but usually to a lesser extent than those suffering from Parkinson's disease, and high doses are a lready required in early disease stages. No specific therapy is available for cer ebellar dysfunction, while effective treatments exist for urinary and cardiovascul ar autonomic failure. Physical therapy may help to improve the difficulties o f gait and stance, and to prevent their complications. In later disease stages, s peech therapy becomes necessary for the treatment of dysarthria and dysphagia. Percutaneous gastrostomy is sometimes necessary in patients with severe dysphagia. Beyond these strategies, psychological support, social care and occupational therapy to adapt the environment to the patient's disability are prerequisites for improving the quality of life in MSA patients. FAU - Damon-Perriere, Nathalie AU - Damon-Perriere N AD - Service de neurologie, Centre de reference national maladie rare atrophie multisystematisee, CHU de Bordeaux, Hopital du Haut-Leveque, Pessac. FAU - Tison, Francois

AU FAU AU LA PT PT PT TT PL TA JT JID RN RN SB MH MH MH MH MH MH MH MH MH MH MH MH MH MH MH MH EDATMHDACRDTAID AID PST SO 0212. PMIDOWN STATDA DCOMLR IS IS VI IP DP TI PG LID AB ncing ative

Tison F Meissner, Wassilios G Meissner WG fre English Abstract Journal Article Review L'atrophie multisystematisee. France Psychol Neuropsychiatr Vieil Psychologie & neuropsychiatrie du vieillissement 101203421 0 (Antiparkinson Agents) 46627O600J (Levodopa) IM Aged Antiparkinson Agents/therapeutic use Atrophy Brain/pathology Combined Modality Therapy Cross-Sectional Studies Humans Levodopa/therapeutic use Magnetic Resonance Imaging Multiple System Atrophy/*diagnosis/epidemiology/therapy Neurologic Examination Palliative Care Parkinsonian Disorders/diagnosis/epidemiology/therapy Physical Therapy Modalities Prognosis Survival Rate 2010/08/27 06:00 2010/11/10 06:00 2010/08/27 06:00 pnv.2010.0212 [pii] 10.1684/pnv.2010.0212 [doi] ppublish Psychol Neuropsychiatr Vieil. 2010 Sep;8(3):179-91. doi: 10.1684/pnv.2010. 20494279 NLM MEDLINE 20100524 20100824 20131023 1558-1381 (Electronic) 1047-9651 (Linking) 21 2 2010 May Communication and aging. 309-19 10.1016/j.pmr.2009.12.011 [doi] People with communication disorders form a diverse group with some experie long-standing disorders and others the onset of new disorders in old age. Regardless of age at onset, the burden of communication disorders is cumul and has important implications for health care providers. Communication se

rves many roles for older people, not only establishing and maintaining social affiliations but also providing access to health care services. Health car e providers should be aware of potential communication disorders and make pr ovision for quiet environments, reading materials at appropriate literacy levels, and longer appointments for people with communication difficulties. FAU - Yorkston, Kathryn M AU - Yorkston KM AD - Division of Speech Pathology, Department of Rehabilitation Medicine, Unive rsity of Washington, Box 356490, Seattle, WA 98195-6490, USA. yorkston@u.washing ton.edu <yorkston@u.washington.edu> FAU - Bourgeois, Michelle S AU - Bourgeois MS FAU - Baylor, Carolyn R AU - Baylor CR LA - eng GR - H133B080024/PHS HHS/United States GR - R03 DC010044-01/DC/NIDCD NIH HHS/United States PT - Journal Article PT - Research Support, N.I.H., Extramural PT - Review PL - United States TA - Phys Med Rehabil Clin N Am JT - Physical medicine and rehabilitation clinics of North America JID - 9102787 SB - IM MH - Aged MH - Aged, 80 and over MH - Aging/*physiology/psychology MH - *Communication MH - Communication Barriers MH - Communication Disorders/diagnosis/epidemiology/*rehabilitation MH - Dysarthria/diagnosis/rehabilitation MH - Female MH - Geriatric Assessment MH - Health Behavior MH - Health Services Accessibility MH - Humans MH - Incidence MH - *Interpersonal Relations MH - Male MH - Memory Disorders/diagnosis/rehabilitation MH - Professional-Patient Relations MH - *Quality of Life MH - Risk Assessment MH - Sensation Disorders/diagnosis/rehabilitation RF - 50 PMC - PMC3074568 MID - NIHMS280809 OID - NLM: NIHMS280809 OID - NLM: PMC3074568 EDAT- 2010/05/25 06:00 MHDA- 2010/08/25 06:00 CRDT- 2010/05/25 06:00 AID - S1047-9651(09)00119-3 [pii]

AID - 10.1016/j.pmr.2009.12.011 [doi] PST - ppublish SO - Phys Med Rehabil Clin N Am. 2010 May;21(2):309-19. doi: 10.1016/j.pmr.2009.12.011. PMIDOWN STATDA DCOMLR IS IS VI IP DP TI onset 19223931 NLM MEDLINE 20090723 20091008 20130828 1476-5438 (Electronic) 1018-4813 (Linking) 17 8 2009 Aug A novel mutation in the mitochondrial tRNA(Pro) gene associated with late-

ataxia, retinitis pigmentosa, deafness, leukoencephalopathy and complex I deficiency. PG - 1092-6 LID - 10.1038/ejhg.2009.12 [doi] AB - We present a patient with ataxia, retinitis pigmentosa, dysarthria, neurosensorial deafness, nystagmus and leukoencephalopathy. A novel hetero plasmic G to A transition at nucleotide 15 975 was found, affecting the T arm of t he mitochondrial (mt) tRNA(Pro) gene. A biochemical analysis of respiratory c hain enzymes in muscle revealed isolated complex I deficiency. This is the four th pathogenic tRNA(Pro) point mutation to be associated with an mt disorder. The result highlights the importance of molecular dissection of mtDNA in patie nts with defined mt disorder and confirms the clinical and biochemical heterog eneity associated with tRNA(Pro) mutations. FAU - Da Pozzo, Paola AU - Da Pozzo P AD - Department of Neurological, Neurosurgical and Behavioural Sciences, Univer sity of Siena, Italy. FAU - Cardaioli, Elena AU - Cardaioli E FAU - Malfatti, Edoardo AU - Malfatti E FAU - Gallus, Gian Nicola AU - Gallus GN FAU - Malandrini, Alessandro AU - Malandrini A FAU - Gaudiano, Carmen AU - Gaudiano C FAU - Berti, Gianna AU - Berti G FAU - Invernizzi, Federica AU - Invernizzi F FAU - Zeviani, Massimo AU - Zeviani M FAU - Federico, Antonio

AU - Federico A LA - eng PT - Case Reports PT - Journal Article PT - Research Support, Non-U.S. Gov't DEP - 20090218 PL - England TA - Eur J Hum Genet JT - European journal of human genetics : EJHG JID - 9302235 RN - 0 (RNA, Transfer, Pro) RN - EC 1.6.5.3 (Electron Transport Complex I) SB - IM MH - Age of Onset MH - Ataxia/complications/epidemiology/*genetics MH - Base Sequence MH - Brain Diseases/complications/*genetics MH - Deafness/complications/*genetics MH - Electron Transport Complex I/deficiency/*genetics MH - Female MH - Genes, Mitochondrial MH - Hearing Loss, Sensorineural/genetics MH - Humans MH - Middle Aged MH - Molecular Sequence Data MH - Mutation, Missense MH - Nucleic Acid Conformation MH - Nystagmus, Congenital/complications/genetics MH - Pedigree MH - RNA, Transfer, Pro/*genetics MH - Retinitis Pigmentosa/complications/*genetics PMC - PMC2986557 OID - NLM: PMC2986557 EDAT- 2009/02/19 09:00 MHDA- 2009/10/09 06:00 CRDT- 2009/02/19 09:00 PHST- 2009/02/18 [aheadofprint] AID - ejhg200912 [pii] AID - 10.1038/ejhg.2009.12 [doi] PST - ppublish SO - Eur J Hum Genet. 2009 Aug;17(8):1092-6. doi: 10.1038/ejhg.2009.12. Epub 20 09 Feb 18.