Movement Disorders Vol. 25, No. 5, 2010, pp.

647–658 Ó 2010 Movement Disorder Society

Letters to the Editor Related to New Topics

Agrypnia with Nocturnal Confusional Behaviors in Dementia with Lewy Bodies: Immediate Efficacy of Rivastigmine
Video A confusional, delirious state occurring at twilight and into the evening/night has been reported in patients with dementia.1 This disturbance has been linked to arousal disorders with cortical deactivation.2 We describe a woman aged 76 years affected by severe insomnia with aberrant nocturnal behaviors, whose appearance preceded the clinical evolution that allowed a diagnosis of probable dementia with Lewy bodies (LBD). Nocturnal agitation, wandering, and falls out of bed were reported. Structured visual hallucinations (her husband, unknown people or dead relatives) were described. A neuropsychological evaluation 18 months before our observation revealed only mild reduction in short-term verbal memory. At our observation, a mild hypokinetic-rigid parkinsonism with right-side prevalence of motor symptoms (UPDRS part III: 21) was present, mildly improved (UPDRS part III: 12) after one week of levodopa therapy (300 mg/day). Diurnal fluctuations of cognition with confusional spells and excessive sleepiness were present; neuropsychological evaluations (24-hour test–retest interval) documented day-today fluctuations, MMSE score of 20.7 in more alert state and deficits (equivalent scores,3 calculated from the raw scores, considered pathological when equal to or less than one) in logic-executive (Weigl’s Sorting Test, Raven’s colored matrices 47, frontal assessment battery, phonemic and semantic verbal fluency) and visuo-constructional abilities (Rey-Osterrieth complex figure immediate and delayed copying). Brain MRI revealed diffuse cortical atrophy, SPECT imaging showed decreased presynaptic dopamine reuptake in the putamen and in the caudate nucleus. Video-polysomnography (video-PSG) demonstrated severe disorganization of sleep with subcontinuous wakefulness interrupted by short periods of NREM sleep (Fig. 1) and, during wakefulness, recurrent anomalous movements of the whole body or parts of the body, including rhythmic scratching of the head, nose, pelvic region, and legs; at times the patient attempted to climb over the bars applied to the bed or got on her hands and knees (Video 1). These manifestations occurred unchanged every night until rivastigmine 3 mg was administered: video-PSG documented

Additional Supporting Information may be found in the online version of this article. Potential conflict of interest: Nothing to report. Published online 19 February 2010 in Wiley InterScience (www. DOI: 10.1002/mds.22726

considerable restoration of sleep, without confusional manifestations, in the presence of REM sleep without atonia. Three months after discharge, follow-up video-PSG confirmed partial restoration of sleep structure without abnormal behaviors. Fifteen months after a fourth follow-up video-PSG confirmed the organization of nocturnal sleep into NREM/REM periods, although insomnia persisted. A short confusional arousal (Fig. 1, black arrow) was documented. The first night of rivastigmine discontinuation, a fifth video-PSG documented the reappearance of complete insomnia with confusional behaviors: the patient repeatedly got out and even fell out of bed, fiddled with her clothing, and the recording device detaching the leads. Rivastigmine 3 mg twice a day was reintroduced leading to sudden remission of night-time symptoms, confirmed at a clinical follow up 12 months later. The night-time sleeplessness observed in this patient with incessant movements and wandering had begun before a picture of dementia appeared, and were reminiscent of sundowning.4 Sundowning consists of sleep-wake pattern disruption and behavioral abnormalities, peaking in the early evening and continuing into the night. There are no reports of severe insomnia with confusional behaviors as heralding symptoms of LBD. In familial alpha-synucleinopathy, insomnia and sleep-related behavioral abnormalities (vocalizations, aggressive movements, falls) were reported, based on patient histories, to antedate the parkinsonian syndrome, but as independent features.5 Nocturnal paroxysmal episodes in the form of REM sleep behavior disorder (RBD) have been shown to harbinger synucleinopathies6 and are so frequent in LBD that it has been included in the diagnostic criteria as a feature suggestive of a diagnosis.7 However, RBD is by definition an abnormal behavior emerging during REM sleep, whereas in the described subject the confusional behaviors occurred during a state that was not scorable as REM sleep. Although sleep stage differentiation can be challenging in extrapyramidal disorders, trained scorers can reliably distinguish REM sleep from wakefulness and NREM sleep: all the motor-behavioral manifestations recorded in the described subject occurred during clearly identifiable wakefulness.8 RBD can be deemed a simpler manifestation of status dissociatus, which is a clinical and polygraphic condition in which the various states of being (i.e., wakefulness, NREM and REM sleep) are simultaneously present. In this case, collapse of state determinants results in the inability to identify conventional stages during sleep. However, we cannot exclude with certainty the existence of covert REM sleep during other states of being,9 namely during wakefulness, which might be responsible for the behavioral abnormalities observed. On the other hand, in a similar way, it has been proposed that sundowning is related to a state of conflict between elements of wakefulness and NREM sleep; in this state, the cortex, having prepared for sleep, is unable to process correctly




FIG. 1. Sleep hypnograms during observation. (A) Baseline: subcontinuous wakefulness intermingled with very short periods of NREM sleep. (B) First night with rivastigmine: reappearance of REM sleep in clearly recognizable NREM-REM sleep cycles. (C) Three months and (D) 15 months follow up with rivastigmine: persisting recovery, despite abundant wake activity. (E) Rivastigmine withdrawal: continuous wakefulness, complete agrypnia. (1) Confusional arousal like episode and (2) electrode detachment during confusional manifestations.

the continuous stream of information deriving from the patient’s wakeful state.2 The suggestion is that the inability to sustain arousal during behavioral wakefulness, with NREM sleep intruding into it, creates the substrate for confusion. Such a breakdown of the boundaries between wakefulness and NREM sleep, resulting in the coexistence of conflicting elements of different local states of being, has been documented.10 Indeed, it can be hypothesized that sleep onset mechanisms (involving a complex interrelationship between multiple neurotransmitters11) could be altered, resulting in a state of persisting behavioral wakefulness, and, at the same time, that this wakefulness is, vice versa, weakened by the state of reduced arousal. In our case, administration of rivastigmine quickly recovered sleep patterns and the behavioral disturbances, displaying a rapid switch on/switch off effect. Loci of degeneration in LBD-related neuropathology are found in several nuclei (including the cholinergic nuclei) involved in sleep regulation.7 Release of acetylcholine (Ach) has, for years, known to be essential for vigilance and cortical activation during wakefulness, controlling cortical arousal and awareness, while its reduction supports the slow-wave component of NREM sleep. Furthermore, Ach is thought to be involved in the circuitry mediating REM sleep: in our patient REM sleep was present only during rivastigmine therapy, and was undetectable in the absence of the drug. Restoring Ach activity in our patient proved to be a successful therapeutic strategy, partially re-establishing sleep/

wake cycle, and preventing confusional episodes during nighttime wakefulness (one very brief confusional arousal-like episode occurred, but it did not affect the overall sleep pattern).

Video-PSG on admission. This video shows global slow movement, by which the patients get on her hands and knees assuming and keeping a position which reminds that of a ‘‘Muslim in praying.’’ Michele Terzaghi* Valter Rustioni Raffaele Manni Sleep Medicine and Epilepsy Unit IRCCS ‘‘C. Mondino Institute of Neurology’’ Foundation Pavia, Italy *E-mail: Claudio Pacchetti Roberta Zangaglia Maria Ossola Parkinson’s Disease and Movement Disorders Unit IRCCS "C. Mondino Institute of Neurology’’ Foundation University of Pavia Pavia, Italy

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1. Bliwise DL. What is sundowning? J Am Geriatr Soc 1994;42: 1009–1011. 2. Staedt J, Stoppe G. Treatment of rest-activity disorders in dementia and special focus on sundowning. Int J Geriatr Psychiatry 2005;20:507–511. 3. Capitani E, Laiacona M. Composite neuropsychological batteries and demographic correction: standardization based on equivalent scores, with a review of published data. The Italian Group for the Neuropsychological Study of Ageing. J Clin Exp Neuropsycol 1997;19:795–809. 4. Nowak L, Davis JE. A qualitative examination of the phenomenon of sundowning. J Nurs Scholarsh 2007;39:256–258. ` 5. Zarranz JJ, Fernandez-Bedoya A, Lambarri I, et al. Abnormal sleep architecture is an early feature in the E46K familial synucleinopathy. Mov Disord 2005;20:1310–1315. 6. Boeve BF, Silber MH, Ferman TJ, et al. REM sleep behavior disorder and degenerative dementia: an association likely reflecting Lewy body disease. Neurology 1998;51:363– 370. 7. McKeith IG, Dickson DW, Lowe J, et al. Consortium on DLB. Diagnosis and management of dementia with Lewy bodies: third report of the DLB Consortium. Neurology 2005;65:1863–1872. 8. Bliwise DL, Willians ML, Irbe D, Ansari FP, Rye DB. Inter-rater reliability for identification of REM sleep in Parkinson’s disease. Sleep 2000;23:671–676. 9. Nielsen TA. A review of mentation in REM and NREM sleep: ‘‘covert’’ REM sleep as a possible reconciliation of two opposing models. Behav Brain Sci 2000;23:851–866. 10. Terzaghi M, Sartori I, Tassi L, et al. Evidence of dissociated arousal states during NREM parasomnia from an intracerebral neurophysiological study. Sleep 2009;32:409–412. 11. Jones BE. Basic mechanisms of sleep-wake states. In: Kryger MH, Roth T, Dement WC, editors. Principles and practice of sleep medicine, Third ed. Philadelphia, USA: W.B. Saunders Company; 2000. p 134–154.


Hyperintensity in the Basis Pontis: Atypical Neuroradiological Findings in a Woman with FXTAS
A CGG trinucleotide repeat expansion in the fragile X mental retardation 1 gene (FMR1) within the premutation range (55–200 CGG repeats) is associated with the fragile X-associated tremor/ataxia syndrome (FXTAS), a late-onset neurodegenerative disorder. An explanation for neurodegenerative changes assumes that the expanded-repeats in the RNA transcript exerts a toxic gain-of-function effect on cellular metabolism by interfering with the binding of several RNA processing factors, leading to functional changes in the corresponding proteins.1 FXTAS is characterized by a progressive action tremor and cerebellar ataxia; parkinsonism, polyneuropathy, dysautonomia, and cognitive decline may be variable associated.1 MR imaging contributes to identification of FXTAS and the typical findings are brain atrophy, subcortical, and perivenPotential conflict of interest: Nothing to report. Published online 3 March 2010 in Wiley InterScience (www. DOI: 10.1002/mds.22811

tricular white matter disease, including increased signal intensity in T-2 weighted images of the middle cerebellar peduncle (MCP).2 The clinical and radiological spectrum in affected women is not well defined because of the low penetrance in females.3 Here, we report a female premutation carrier with atypical neuroradiological findings. A 70-year-old woman developed postural and action tremor of both hands 5 years before. Her past medical history included depression and subclinical hypothyroidism. She had no premature ovarian failure, arterial hypertension, peripheral neuropathy, seizures, or fibromyalgia. She had one daughter and two sons. Her two daughter’s sons had been diagnosed of fragile X syndrome. A diagnosis of Parkinson’s disease was made 2 years before; she was on levodopa (150 mg/d), pramipexole (2.1 mg/d), and rasagiline (1 mg/d) therapy, without any clinical response. Neurological examination revealed hypomimia and bilateral mild postural tremor of the upper extremities. Neither rigidity nor bradykinesia were noted. Mild appendicular ataxia was present in upper and lower extremities. There was no sign of pyramidal, eye movement, or autonomic system involvement. No cognitive impairment was detected by the Folstein Mini-Mental Status Examination test. DNA analysis demonstrated expansion of 85 CGG repeats in one FMR1 allele, the second allele was normal. The patient’s symptoms improved after withdrawing dopaminergic therapy. Magnetic resonance imaging findings in this case were mild cerebral and cerebellar atrophy, patchy areas of increased signal intensity on T2 weighted or FLAIR images in periventricular and deep white matter of the cerebral hemispheres and corpus callosum. There was no increased T2 signal intensity in white matter of the MCP or in underlying cerebellar white matter but a striking high signal was seen in the base of the pons on T2 weighted or FLAIR images (Fig. 1). None of the lesions showed focal restricted diffusion by using MR diffusion-weighted imaging (DWI). Factors that may influence FXTAS involvement in females are the normal expression of FMR1 from normal allele and the modification of the effect of CGG repeats induced by the activation ratio.1 The neurological symptoms are usually much milder in females than males. In like manner, milder

FIG. 1. Axial FLAIR images depict intense hyperintensities in basis pontis with normal findings in middle cerebellar peduncles. The pontine tegmentum and the superior cerebellar peduncles are also involved (arrows).

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3. Coffey SM, Cook K, Tartaglia N, et al. Expanded clinical phenotype of women with the FMR1 premutation. Am J Med Genet A 2008;146A:1009–1016. 4. Adams JS, Adams PE, Nguyen D, et al. Volumetric brain changes in females with fragile X-associated tremor/ataxia syndrome (FXTAS). Neurology 2007;69:851–859. 5. Greco CM, Berman RF, Martin RM, et al. Neuropathology of fragile X-associated tremor/ataxia syndrome (FXTAS). Brain 2006;129 (Part 1):243–255. 6. Ginestroni A, Guerrini L, Della Nave R, et al. Morphometry and 1H-MR spectroscopy of the brain stem and cerebellum in three patients with fragile X-associated tremor/ataxia syndrome. Am J Neuroradiol 2007;28:486–488. 7. Kamm C, Healy DG, Quinn NP, et al. The fragile X tremor ataxia syndrome in the differential diagnosis of multiple system atrophy: data from the EMSA Study Group. Brain 2005;128:1855–1860. 8. Jacquemont S, Orrico A, Galli L, et al. Spastic paraparesis, cerebellar ataxia, and intention tremor: a severe variant of FXTAS? J Med Genet 2005;42:e14. 9. Ruzek KA, Campeau NG, Miller GM. Early diagnosis of central pontine myelinolysis with diffusion-weighted imaging. Am J Neuroradiol 2004;25:210–213.

radiological findings in females affected by FXTAS when compared with males were reported. Adams et al. documented lower incidence of the MCP signs and less pronounced cerebellar volume loss.4 From neurons in the basis pontis arises the major afferent pathway into the cerebellum; these axons form the transverse pontine fibres and the MCPs. The neuropathological study of brains of patients with FXTAS demonstrated the presence of white matter disease within the cerebrum and cerebellum in relationship with spongiosis with rare axonal spheroids and myelin pallor. Abnormal MCPs white matter disease was present but abnormal pons white matter was not mentioned.5 In patients with FXTAS, abnormal high intensity was seen in MCP but in only few cases it was accompanied by a signal intensity changes in T-2 weighted images of the pons.6–8 In our patient, the transverse pontine fibers, but not MCP, are probably degenerated, reflecting these changes is the abnormal high-signal observed in the basis pontis The MR findings shown in this study are not specific, a differential diagnosis with central pontine myelinolysis (CPM) needs to be considered but DWI demonstrates restricted diffusion within the central pons in CPM.9 Thus, this case exemplifies the diversity of MRI abnormalities that could be associated with this condition and expands its neuroradiological features beyond the typical MCP sign. In addition, this case shows the discrepancy between the MRI findings and the minimal clinical manifestations. ´ Financial Disclosures: G. Morıs: none. M. Arias: none. ´ ´ M.V. Lopez: none. V. Alvarez: none. ´ Author Roles: G. Morıs and M. Arias—contributed to the ´ conception and organization of the manuscript. G. Morıs— wrote the first draft. M. Arias—reviewed the first draft. M.V. ´ Lopez—performed the magnetic resonance imaging analyses. ´ V. Alvarez—performed the genetic analyses. All authors read and approved the final manuscript. ´ ´ German Morıs, MD* ´ Monica Arias, MD Service of Neurology Hospital San Agustı´n ´s, Avile Asturias, Spain *E-mail: ´ Maria Valle Lopez, MD Service of Radiology Hospital San Agustı´n ´s, Avile Asturias, Spain ´ Victoria Alvarez, PhD Molecular Genetics Hospital Universitario Central Asturias (HUCA) Oviedo, Asturias, Spain

Effects of Chronic Subthalamic Stimulation on Intractable Akathisia in Parkinson’s Disease
Akathisia is defined as a subjective inner restlessness and a feeling of the need to move, leading to the inability to remain still.1 It commonly accompanies Parkinson’s disease (PD).1,2 Although the mechanism of akathisia in PD is still unclear, antiparkinson treatments seldom relieve akathisia satisfactorily.1 The effects of subthalamic nucleus deep brain stimulation (STN-DBS) on motor fluctuation and dyskinesia have been demonstrated, but its effects on nonmotor symptoms of PD are still controversial.3,4 Here, we present three PD patients whose disabling medically-intractable akathisia improved after STN-DBS. A 53-year-old woman with a 12-year history of PD was admitted for STN-DBS. She had been responding well to small dose of levodopa (L-dopa) treatment until 3 years before admission when she developed motor fluctuation. At the same time, she experienced inner restlessness of sufficient severity to disable her daily activities at the start of the ‘‘drug-on’’ period. Because more frequent dosing of L-dopa with combination of entacapone increased the frequency of akathisia symptoms, the patient preferred not to change medication schedule despite of significant motor fluctuation. On admission, she exhibited a continuous stepping movement to relieve this feeling of restlessness without accompanying dyskinesia. She could suppress these leg movements, but only for a short period of time. She stated that akathisia was a more disabling symptom than her other parkinsonian symptoms. Administration of various medications, including Ldopa and beta-blockers, failed to improve her akathisia. After STN-DBS, the patient no longer experienced inner restlessPotential conflict of interest: Nothing to report. Published online 8 March 2010 in Wiley InterScience (www. DOI: 10.1002/mds.22905

1. Berry-Kravis E, Abrams L, Coffey SM, et al. Fragile X-associated tremor/ataxia syndrome: clinical features, genetics, and testing guidelines. Mov Disord 2007;22:2018–2030. 2. Brunberg JA, Jacquemont S, Hagerman RJ, et al. Fragile X premutation carriers: characteristic MR imaging findings of adult male patients with progressive cerebellar and cognitive dysfunction. Am J Neuroradiol 2002;23:1757–1766.

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TABLE 1. Clinical characteristics of the patients and the effects of STN-DBS treatment
Case 1 Sex/age (yr) PD duration (yr) Onset age (yr) Hoehn & Yahr stage Pre STN DBS disability UPDRS III—off UPDRS III—on UPDRS IV—dyskinesia UPDRS IV—motor fluctuation Daily L-dopa dose (mg) Post STN DBS disability UPDRS III—off UPDRS III—on UPDRS IV—dyskinesia UPDRS IV—motor fluctuation Daily L-dopa dose (mg) F/53 12 41 2 45 8 1 3 300 18 3 1 2 300 Case 2 F/64 11 53 3 48 11 5 4 1400 11 3 5 2 600 Case 3 F/55 9 46 2 33 3 6 4 600 18 2 3 2 450


dopa dosage, the beginning-of-dose akathisia without dyskinesia and off-period akathisia, respectively, whereas Case 3 did not show this relationship. None of the patients had diurnal variation in their akathitic symptoms. Lack of circardian rhythm in our patients, in addition to feelings of restlessness, strongly suggests that the clinical syndrome observed in our patients was akathisia rather than RLS. STN-DBS, in addition to its well-known effects on motor symptoms, has been reported to have a beneficial effect on nonmotor symptoms of PD,3,6 although this is still controversial.4 Witjas et al.3 demonstrated that STN-DBS improved many of the nonmotor symptoms of their PD patients, including akathisia/restlessness, particularly if these symptoms were present during the drug off-period.3 Our observations suggest that STN-DBS is a viable treatment option for controlling intractable akathisia in PD, regardless of its relation to the timing of L-dopa. Further studies that include a larger number of patients are required to confirm the above conclusion. Financial Disclosures: Hae-Won Shin: none; Jin Woo Chang: none; Suk Y. Kang: none; Young H. Sohn: Consultancy-GlaxoSmithKline (GSK). Author Roles: H.-W. Shin: Organization and execution of research project, conception and writing of the first draft; J.W. Chang: Organization and execution of research project; S.Y. Kang: Execution of research project; Y.H. Sohn: Conception and organization of research project, review and critique of the manuscript.

ness and showed marked improvements in her motor symptoms (Table 1), even though L-dopa dosage was not changed. A 64-year-old woman with an 11-year history of PD was admitted for STN-DBS. The duration of the ‘‘drug-on’’ period had gradually shortened starting 4 years before admission. The patient experienced an unpleasant feeling of restlessness during the ‘‘drug-off’’ period. She was unable to sit still, and repeatedly stepped on or shook her legs to overcome this feeling. She was able to suppress these leg movements, but only for a short period of time. Her akathisia disappeared when she was in the ‘‘drug-on’’ state after L-dopa administration, but other medications, such as propranolol and benzodiazepine, had no effect. After STN-DBS, her akathisia disappeared completely, and she experienced significant improvement in motor fluctuation (Table 1). A 55-year-old woman with a 9-year history of PD was admitted for STN-DBS. For 3 years before admission, her ‘‘drug-on’’ period had shortened gradually and she began to experience peak-dose dyskinesia. Two years before admission, she began to experience a feeling of restlessness and a ‘‘crawling’’ sensation in her legs. She had to walk continuously to relieve this feeling of restlessness. Her akathisia was continuously present while awakening, and was not related to the timing of medications. Various drugs, including antiparkinson medications and propranolol, did not relieve her akathisia. After STN-DBS, her akathisia resolved completely, along with a remarkable improvement in motor fluctuation (Table 1). We have presented three PD patients whose intractable and disabling akathisia disappeared completely after STNDBS, along with a remarkable improvement in parkinsonian motor fluctuation. All three patients took postoperative brain CT scans to confirm that the electrodes were correctly located in the STN. The clinical syndrome of akathisia overlaps extensively with restless legs syndrome (RLS), which also commonly accompanies PD.5 Although both disorders are accompanied by an urge to move and primarily involve the legs, feelings of inner restlessness and lack of circardian rhythm can be used to differentiate akathisia from RLS.5 Akathisia in Cases 1 and 2 was related to the timing of L-

Hae-Won Shin, MD Department of Neurology Yonsei University College of Medicine Seoul, Korea Department of Neurology Parkinson/Alzheimer Center, Asan Medical Center University of Ulsan College of Medicine Seoul, Korea Jin Woo Chang, MD, PhD Department of Neurosurgery Yonsei University College of Medicine Seoul, Korea Suk Y. Kang, MD Department of Neurology Yonsei University College of Medicine Seoul, Korea Department of Neurology Kangnam Sacred Heart Hospital Hallym University College of Medicine Seoul, Korea Young H. Sohn, MD, PhD* Department of Neurology Yonsei University College of Medicine Seoul, Korea *E-mail:

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652 References


1. Lang AE, Johnson K. Akathisia in idiopathic Parkinson’s disease. Neurology 1987;37:477–481. 2. Comella CL, Goetz CG. Akathisia in Parkinson’s disease. Mov Disord 1994;9:545–549. 3. Witjas T, Kaphan E, Regis J, et al. Effects of chronic subthalamic stimulation on nonmotor fluctuations in Parkinson’s disease. Mov Disord 2007;22:1729–1734. 4. Cersosimo MG, Piedimonte F, Raina GB, Micheli FE. Bilateral STN-DBS fails to improve non-motor fluctuations in a PD patient. Parkinsonism Relat Disord 2007;13:537–538. 5. Poewe W, Hogl B. Akathisia, restless legs and periodic limb movements in sleep in Parkinson’s disease. Neurology 2004;63 (8 Suppl 3):S12–S16. 6. Kim HJ, Paek SH, Kim JY, et al. Chronic subthalamic deep brain stimulation improves pain in Parkinson disease. J Neurol 2008;255:1889–1894.

A New Case of Uner Tan Syndrome—with Late Childhood Quadrupedalism
Video In 2005 a novel syndrome characterized by habitual quadrupedalism, impaired intelligence, primitive language, and no conscious experience was first introduced to the scientific world as Uner Tan syndrome (UTS).1 The patients could all stand up and walk despite severe ataxia, except one man who could not rise at all.2 They could walk on all four extremities with great ease, and all had crawled on hands and knees during infantile development, with no hypotonia. The reflexes were brisk in the lower extremities, and MRI and PET scans showed inferior cerebello-vermial hypoplasia with a mild gyral simplification of the cerebral cortex.3 This work presents a new case having all the symptoms of UTS except that the quadrupedal locomotion emerged much later in childhood. The patient was a 12-year-old boy born by normal delivery, with no complications during gestation. He was the son of nonconsanguineous parents with one sister and three brothers, one of them had no speech. The patient crawled on hands and knees during infantile development and walked upright despite truncal ataxia, but two years ago he started to walk on all four extremities for rapid locomotion. During quadrupedal locomotion the patient exhibited diagonalsequence gait, favored by our early ancestors.4 The attached video clip shows the patient’s ataxic bipedal walking, sitting, standing up, and quadrupedal running. This is the first video report of a case exhibiting Uner Tan syndrome with ‘‘late childhood quadrupedalism’’. His height, weight, and head circumference were within normal limits, but his cognitive abilities were severely impaired; he has never spoken. There was a mild strabismus with no nystagmus; eye movements were
Potential conflict of interest: All authors report no conflict of interest and have no financial disclosure to make. Published online 19 February 2010 in Wiley InterScience ( DOI: 10.1002/mds.22951

FIG. 1. Brain sagittal (above) and coronal (below) MRI: vermial and cerebellar hypoplasias with normal corpus callosum and cerebral gyri (see above).

normal. The reflexes were hypoactive in the upper and lower extremities. The Babinsky sign could not be elicited bilaterally. There were no signs of spasticity. Muscle tone was normal in the trunk and extremities. The patient could easily stand up and walk upright despite truncal ataxia, but he could not remain upright with his feet together, eyes open or closed, immediately loses balance and fall down (Romberg’s negative). He showed additional cerebellar signs, such as limb dysdiachokinesia, dysmetria, pastpointing, excessive rebound, kinetic tremor, trunk titubation, and inability in tandem gait. His brain MRI scan showed cerebello-vermial hypoplasia (Fig. 1). Above we described a new case exhibiting all the symptoms of UTS, but in contrast to the previous patients this patient only started to walk on all fours later in childhood. The previous cases exhibited habitual quadrupedalism, whereas the present case exhibited facultative quadrupedalism, used only for fast locomotion. These are the main differences between the previous cases and our patient. Apparently, the patient’s motor system was prepared during his first 10 years to run economically on all four extremities, and the slow, uneasy, ataxic, upright gait was replaced by rapid, easy, and well balanced quadrupedal gait. That is, it took 10 years for rewiring5 of his motor system to create a new walking style. This suggests any self-organization within the nervous system6,7 may take a long time to establish a novel locomotion.

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The video shows late childhood case of UTS: ataxic upright locomotion, sitting, standing up and running on allfours. Author Roles: Uner Tan designed and wrote the paper; Meliha Tan and Sibel Karaca performed the research. Meliha Tan, MD Sibel Karaca, MD Department of Neurology Baskent University Adana, Turkey Uner Tan, MD, PhD* Department of Physiology Cukurova University ¸ Adana, Turkey *E-mail:


1. Tan U. Unertan syndrome; quadrupedality, primitive language, and severe mental retardation; a new theory on the evolution of human mind. Neuro Quantol 2005;4:250–255. 2. Tan U. Evidence for ‘‘Unertan Syndrome’’ and the evolution of the human mind. Int J Neurosci 2006;116:763–774. 3. Tan U, Pence S, Yilmaz M, Ozkur A, Karaca S, Tan M, Karatas M. ‘‘Unertan Syndrome’’ in two Turkish families in relation to devolution and emergence of homo erectus: neurological examination, MRI, and PET scans. Int J Neurosci 2008;118:313–336. 4. Kelly RE. Tripedal knuckle-walking: a proposal for the evolution of human Locomotion and handedness. J Theor Biol 2001;213:333–358. 5. Miller G. Rewiring faulty circuits in the brain. Science 2009;323:1554–1556. 6. Thelen E, Kelso JAS, Fogel A. Self-organizing systems and infant motor development. Devel Rev 1987;7:39–65. 7. DeBello WM. Micro-rewiring as a substrate for learning. Trends Neurosci 2008;31:577–579.

Acute Blepharospasm and Torticollis Associated with an Ependymoma of the Lateral Ventricle
Blepharospasm (BL) is a focal dystonia associated with involuntary eyelid closure due to spasms of the orbicularis oculi muscles. In most cases, BL is primary and bilateral, but it may also begin unilaterally. Secondary forms of BL are rare and are generally associated with lesions of the basal ganglia, particularly in the lenticular nucleus, the thalamus, or the brainstem (mesencephalon). They usually provoke unilateral or asymmetrical BL. They have been associated with vascular malformation (e.g., cavernoma), hemorrhage, trauma, demyelination, or parenchymatous tuAdditional Supporting Information may be found in the online version of this article. Potential conflict of interest: Nothing to report. Published online 3 March 2010 in Wiley InterScience (www. DOI: 10.1002/mds.22984

mor.1,2 Here, we report the case of a young man with acute bilateral BL and torticollis, which revealed an ependymoma of the right lateral ventricle. A 23-year-old male patient, without personal or familial medical history, awoke with a bilateral BL corresponding to nonrhythmic, involuntary, and unpredictable contractions of the eyelids. The BL was associated with a moderate antecollis. Clinical signs gradually worsened over the next few days. The rest of his neurological and ophtalmological examination yielded normal results. The unusual and acute onset in this young patient suggests a secondary dystonia. Metabolic (Wilson’s disease) and iatrogenic (neuroleptic, toxic) etiologies were eliminated. Brain magnetic resonance imaging (MRI) showed a wellcircumscribed lesion (21 3 17 3 22 mm) in the right lateral ventricle body, which appeared enlarged, and a second lesion (11 3 8 3 7 mm) in the temporal horn of the right lateral ventricle (Fig. 1). The largest lesion extended to the parenchyma, located toward the right caudate nucleus, and the interthalamic commissure, up to the right thalamus; it had no invasive feature. No lesion was identified in the brainstem or in the lenticular nucleus. There was no enhancement by gadolinium. A polygraphic surface recording of the face and neck muscles revealed that most contractions were bilateral and synchronous and involved both face (orbicularis oculi, zygomatic) and neck (trapezius, sternocleidomastoideus) muscles (Supporting Information Figure). A surgical resection of the intraventricular lesion was performed, and histopathological analysis identified an ependymoma (grade II). Postoperative MRI confirmed the partial removal of the lesion and a residual lesion in the right temporal horn. Clinical improvement was observed in the days following surgery: torticollis was no longer observed, and eyelid spasms were reduced within 24 hours of the surgical procedure and remained unchanged 1 year after surgery. To our knowledge, we describe the first case of acuteonset focal dystonia in a young man that was associated with an ependymoma involving the right lateral ventricle and the head of the right caudate nucleus. So far, only one patient with unilateral BL secondary to an intraventricular tumor has been reported.3 The lesion was a ganglioglioma located in the left lateral ventricle. The appearance of BL as sign of an identified focal central nervous system lesion remains very unusual.1,2 Several results should be noted with respect to the involvement of the basal ganglia in the pathophysiology of primary BL. First, BL is observed in various basal ganglia diseases, such as Parkinson’s disease, Huntington’s disease, progressive supranuclear palsy, and Wilson’s disease.4 In addition, bilateral activations of the lateral globus pallidus, caudate nucleus, putamen, and ventral lateral nucleus of the thalamus have been reported using functional imaging techniques in primary-BL versus non-BL patients, suggesting dysfunction of the motor subcortical loops.5 The quick improvement of symptoms after surgery in our patient supports a causal link between the tumor and the secondary BL. Many pathophysiological mechanisms could be evoked. First, ependymoma or colloid cysts frequently cause unilateral hydrocephalus by compressing the Monro’s foramen.6 Unilateral hydrocephalus could have mechanical consequences: stretching the corticobulbar tracts can cause disinhibition of the facial nucleus and the interneurons involved

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FIG. 1. The MRI showed a well-circumscribed lesion involving the right lateral ventricle, the head of the right caudate nucleus, and a portion of the adjacent white matter (A) and showed a second smaller lesion in the right temporal horn (B).

in blinking.7 Second, the parenchymateous extension of the ependymoma toward the right caudate nucleus, with its mass effect on the right thalamus, could lead to dysfunction of the cortico-striato-thalamo-cortical loops. To explain the fact that bilateral blinking could have been induced by a unilateral lesion, we hypothesize that eyelid movements may be controlled by the nondominant hemisphere, as previously suggested.2 Finally, this case report suggests that intraventricular tumors such as ependymoma can be responsible for secondary focal dystonia in young adults, highlighting the relevance of neuroimaging diagnostics in unusual clinical presentations of focal dystonia. Financial Disclosures: Nothing to report. Author Roles: Virginie Lambrecq—conception, organization, and execution of research project; writing of the first draft of manuscript. Igor Sibon—organization and execution of research project; review and critique of manuscript. Hugues Loiseau—organization and execution of research pro´ ject; review and critique of manuscript. Jeannin Severine— organization and execution of research project; review and critique of manuscript. Virginie Dousset—organization and execution of research project; review and critique of manu´ script. Jean-Yves Rotge—organization and execution of research project; review and critique of manuscript. Dominique Guehl—organization and execution of research project; review and critique of manuscript. Pierre Burbaud—conception, organization, and execution of research project; writing of the first draft and review and critique of manuscript.

´me Nerveux du Syste Bordeaux, France Laboratoire Mouvement Adaptation Cognition Centre National de la Recherche Scientifique (CNRS) ´ Unite Mixte de Recherche 5227 ´ Universite Bordeaux 2 Bordeaux, France *E-mail: Igor Sibon, MD, PhD Centre Hospitalier Universitaire Pellegrin Service de neurologie Bordeaux, France Hugues Loiseau, MD Centre Hospitalier Universitaire Pellegrin Service de Neurochirurgie Bordeaux, France ´ Severine Jeannin, MD Virginie Dousset, MD Centre Hospitalier Universitaire Pellegrin Service de neurologie Bordeaux, France ´ Jean-Yves Rotge, MD Laboratoire Mouvement Adaptation Cognition Centre National de la Recherche Scientifique (CNRS) ´ Unite Mixte de Recherche 5227 ´ Universite Bordeaux 2 Bordeaux, France Centre hospitalier Charles Perrens Service de Psychiatrie Bordeaux, France

Virginie Lambrecq, MD* Centre Hospitalier Universitaire Pellegrin Service des Explorations Fonctionnelles

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Dominique Guehl, MD, PhD Pierre Burbaud, MD, PhD Centre Hospitalier Universitaire Pellegrin Service des Explorations Fonctionnelles du ´me Syste Nerveux, Bordeaux, France Laboratoire Mouvement Adaptation Cognition Centre National de la Recherche Scientifique (CNRS) ´ Unite Mixte de Recherche 5227 ´ Universite Bordeaux 2 Bordeaux, France


1. Kostic VS, Sojanovic-Svetel M, Kacar A. Symptomatic dystonias associated with structural brain lesions: report of 16 cases. Can J Neurol Sci 1996;23:53–56. 2. Verghese J, Milling C, Rosenbaum DM. Ptosis, blepharospasm and apraxia of eyelid opening secondary to putaminal hemorrhage. Neurology 1999;53:652. 3. Yin Foo Lee, Brophy P. Ganglioglioma of the lateral ventricle presenting with blepharospasm-case report and review of the literature. J Clin Neurosci 2001;8:279–282. 4. Tolosa E, Compta Y. Dystonia in Parkinson’s disease. J Neurol 2006;253:7–13. 5. Obermann M, Yaldizli O, de Greiff A, Lenard Lachenmayer M, Buhl A, Maschke M. Morphometric changes of sensorimotor structures in focal dystonia. Mov disord 2007;22:1117–1123. 6. Gaab MR, Schroeda HW. Neuroendoscopic approach to intraventricular lesions. Neurosurgery 1998;88:496–505. 7. Lang A, Sharpe J. Bleparospasm aasociated with palatal myoclonus and communicating hydrocephalus. Neurology 1984;34:1522– 1524.

FIG. 1. Present status of our patient. The head, the neck, and the trunk appear laterally bent to the left due to increased tone of the cervical, the dorsal, and the lumbar musculature. A dystonic deformity of the ispilateral hand is also noticed.

Levodopa-Aggravated Lateral Flexion of the Neck and Trunk as a Delayed Phenomenon of Unilateral Pallidotomy
We report a patient with early-onset Parkinson’s disease (PD) who, 5 years after a right-sided pallidotomy, developed a tonic deviation to the left of the head, the neck, and the trunk that was markedly aggravated by levodopa (L-dopa). We suggest that this motor phenomenon may represent a postoperative dystonia or an L-dopa-potentiated motor asymmetry and it should be considered a delayed adverse effect of the neurosurgical procedure. Our patient first experienced left-sided bradykinesia, rigidity, and rest tremor at the age of 38. The symptoms improved markedly following L-dopa administration. His right side became similarly affected 3 years later. He presented motor fluctuations and hyperkinesias 8 years after the initial PD diagnosis. Thirteen years after disease onset, he underwent a

Potential conflict of interest: Nothing to report. Published online 3 February 2010 in Wiley InterScience (www. DOI: 10.1002/mds.22988

right-sided pallidotomy. Four years later, he noticed a lateral deviation of his head to the left, a drop of his left shoulder and a dystonic posturing of his left hand. Over the following months, the postural abnormality progressed to involve the neck and trunk. The deformity persisted while he was sitting, lying, or walking, mimicking a left-sided scoliosis (Fig. 1). Prompted by the observation that the lateral body deviation was significantly potentiated following L-dopa dosing, we reduced the total daily L-dopa amount to 150 mg. Although a considerable improvement was noticed, the postural abnormality never resolved completely. There was no further progression of this motor phenomenon. Brain MRI revealed a lesion of the posterioventral right GPi that extended to the neighboring part of the GPe. To our knowledge, this is the fourth patient described with a late development of lateral flexion of the trunk following a unilateral pallidotomy. The previously reported three patients had undergone a left-sided pallidotomy and developed a deviation of the spine to the right.1 One of them developed torticollis contralaterally to the side of the pallidal lesion, similar to our patient. Interestingly, all four patients suffered from early-onset PD and developed the posture deformity years after the pallidotomy (Table 1). In each of them, the medial pallidal lesion extended to the internal capsule or the extrernal globus pallidus and/or the putamen.1 Dystonia in PD patients occurs either as an off-period phenomenon related to L-dopa depletion or during on-periods when it is probably related to excess L-dopa.2 Furthermore, unilateral restricted pallidal lesions are known to cause contralateral hemidystonia, segmental or focal limb dystonia, and torticollis.3 As our patient’s symptoms showed no drug related positive effect and as he indeed had an extended lesion of the right pallidum, it is possible that the motor deformity may be a form of postoperative segmental dystonia.

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TABLE 1. Characteristics of the four operated PD patients with the neck and/or the trunk lateral deviation
Age at PD onset 38 44 47 43 43 6 3.7 PD duration on pallidotomy 13 17 6 17 13.3 6 5.2 Years from pallidotomy to symptoms onset 4 8 9 4 6.3 6 2.6 PD duration on symptoms onset 17 25 15 21 19.5 6 4.4 Lesion localization based on MRI GPi/GPe GPi/GPe GPi/Internal Capsule GPi/GPe/Sella Media

Present age Our pt Pt 1a Pt 2a Pt 3a Mean

61 72 63 69 66.3 6 5

Patients 1, 2, and 3 are reported in Ref. 1.

The aggravation of the lateral body deviation by L-dopa could represent a motor asymmetry similar to that observed in rats following a unilateral lesion of the nigrostriatal pathway.4 In this rotating rat model of Parkinsonism, L-dopa, given weeks after intracerebral injection of the neurotoxin 6Hydroxydopamine, induces a contralateral body rotation associated with increased 3H-spiroperidol binding in the lesioned striatum.4 More recent studies5 have shown that long-term administration of L-dopa to rats lesioned by 6-Hydroxydopamine alters corticostriatal bidirectional synaptic plasticity. As such, it is possible that pallidotomy has altered the local basal ganglia circuitry in our patient, resulting in the L-dopa aggravated motor asymmetry. In light of the above, we could conclude that contralateral deviation of the head, the neck, and/or the trunk can occur as a delayed adverse event following unilateral pallidotomy. The extension of the primary medial pallidal lesion to other neighboring basal ganglia structures could be the underlying pathogenetic mechanism. In this regard, it is unclear as to why it takes so many years for the deformity to develop following the neurosurgical procedure, when in other acute basal ganglia lesions dystonia occurs immediately or shortly after the destructive event. A long-term postoperational modification of the basal ganglia physiology, perhaps similar to that occurring in the rat model of Parkinsonism in which contralateral rotation requires some time to develop following damage to the nigrostriatal pathway,4 may be implicated. Since follow-up studies of operated PD patients extend from 1 to 5 years,6,7 it is not surprising that dystonia is never reported as a postoperative complication of pallidotomy. Follow-up studies of longer duration are needed to reveal the long-term motor consequences of this neurosurgical procedure. Financial Disclosures: Cleanthe Spanaki has been receiving grants from the Parkinson Disease Foundation and from the Second Operational Program for Education and Initial Vocational Training (EPEAEK II) from the Ministry of Education of Greece. Spyros Zafeiris has nothing to disclose. Andreas Plaitakis has been supported by the European Community and the Ministry of Development/General Secretariat for Research and Technology (Contract grant number: PENED 2003/03ED576) and by the Association for the Advancement of Research and Treatment of Neurologic Disorders of Crete EY ZHN. Authors Roles: Cleanthe Spanaki: Conception and writing of the manuscript; Spiros Zafeiris: Taking care of the patient, providing photographs; Andreas Plaitakis: Conception, review, and critique of the final manuscript.

Cleanthe Spanaki, MD, PhD* Spiros Zafeiris, MD Andreas Plaitakis, MD, PhD Department of Neurology, University of Crete, Medical School, Heraklion, Crete, Greece *E-mail:

1. van de Warrenburg BP, Bhatia KP, Quinn NP. Pisa syndrome after unilateral pallidotomy in Parkinson’s disease: an unrecognised, delayed adverse event? J Neurol Neurosurg Psychiatry 2007;78: 329–30; Erattum in J Neurol Neurosurg Psychiatry 2008;79: 337. 2. Tolosa E, Compta Y. Dystonia in Parkinson’s disease. J Neurol 2006;253 (Suppl 7):VII7–VII13. 3. Bhatia KP, Marsden CD. The behavioral and motor consequences of focal lesions of the basal ganglia in man. Brain 1994;117:859–876. 4. Heikkila RE, Shapiro BS, Duvoisin RC. The relationship between the loss of dopamine nerve terminals, striatal 3H-spiroperidol binding and rotational behavior in unilaterally-lesioned rats. Brain Res 1981;211:285–292. 5. Picconi B, Centonze D, Hakansson K, et al. Loss of bidirectional synaptic plasticity in L-dopa induced dyskinesias. Nat Neurosci 2003;6:501–506. 6. Fine J, Duff J, Chen R, Chir B, Hutchison W, Losano AM, Lang AE. Long-term follow-up of unilateral pallidotomy in advanced Parkinson’s disease. N Engl J Med 2000;342:1708–1714. 7. Strutt AM, Lai EC, Jankovic J, et al. Five-years follow-up of unilateral posteroventral pallidotomy in Parkinson’s disease. Surg Neurol 2009;71:551–558.

GPi-pallidal Stimulation to Treat Generalized Dystonia in Cockayne Syndrome
Video Cockayne syndrome (CS) is a rare autosomal recessive, progeroid disorder characterized by progressive multisystem degeneration.1 While neurological impairments usually begin
Additional Supporting Information may be found in the online version of this article. Potential conflict of interest: Nothing to report. Published online 3 February 2010 in Wiley InterScience (www. DOI: 10.1002/mds.22992

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FIG. 1. Changes in the Burke-Fahn-Marsden Dystonia Rating Scale (BFM-DRS) subscores before and after surgery. During the 5 month of follow-up period, dystonic symptoms in the craniofacial region, neck, and extremities improve progressively. His total BFM-DRS score, 45 before treatment (maximum 5 120) decreased to 26.5 (41.1% improvement) at 18 days and to 19.5 (56.7% improvement) at 5 months after the operation.

in early infancy,1 CS spans a wide range of phenotypical expressions and a variable clinical course.1,2 We describe our experience with the use of deep brain stimulation (DBS) for the bilateral globus pallidus internus (GPi) in a CS patient associated with generalized dystonia. The patient, a 52-year-old man with growth failure manifesting cognitive disturbance (IQ 5 44), microcephaly (head circumference 5 48 cm), and low body height (155 cm) and weight (44 kg) also presented with retinal degeneration, cataract, and sensorineuroal hearing impairment, bilaterally. He had been born without perinatal complications as the 8th of 9 healthy siblings; however, abnormal growth and cognitive development became apparent before he entered elementary school. Around the age of 30 years, he began to manifest involuntary movements of his right arm; at the age of 33, he was placed in a nursing home. At the age of 42, he developed cervical dystonia (CD). Despite variable medical therapies, such as Clonazepam, Haloperidol, or Trihexyphenidyl combined with botulinum toxin injections, dystonia spread to his trunk and lower extremities, making walking difficult. Progressive CD severely interfered with his eating and he consequently suffered aspiration pneumonia in April 2008. On admission to our hospital, the patient received 2 mg/day of Clonazepam. He exhibited blephalospasm, oromandibular grimacing, CD with muscular pain, truncal bending and torsion, and dystonic tremor of the extremities. He was unable to hold out his hands horizontally. He could not grasp his right hand usefully, and his dystonic tremor and posture also severely interfered with eating with his left hand (Video Segment 1). His preoperative Burke-Fahn-Marsden (BFM)-Dystonia Rating Scale (DRS) was 45/120 (Fig. 1). Neuroradiological studies showed extensive atrophy of the cortical and subcortical structures and the cerebellum without marked calcified lesions. We proceeded surgery after receiving prior informed consent from the patient and his family indicating uncertain outcome.

In June 2008, under general anesthesia, he underwent stereotactic implantation of DBS electrodes (model 3387; Medtronic) into the bilateral GPi. On the microelectrode recordings, the background activity was significantly reduced when the probe was passing through the point 2 mm anterior, 21 mm lateral, and 3 mm ventral to the midpoint of the anterior–posterior commissure line. Then, the contact 0 of the DBS electrode was placed at this target site. His postoperative course was uneventful. Using the contacts 0 and 1, chronic unipolar stimulation (130 Hz frequency, 450 lsec pulse width) was started with pulse generators (Soletra, Medtronic) implanted in the subclavian portion. In the course of 1 month, the amplitude was gradually increased to 2.8 V. Dose of clonazepam was reduced to 1 mg/day postoperatively. During a 5-month follow-up period, his dystonic symptoms progressively improved (Fig. 1). His dystonic tremor responded promptly GPi stimulation (Video Segment 2) and his muscular neck and shoulder pain disappeared within several days. By 1 week after surgery, he could eat by himself using his left- and occasionally his right hand (Video Segment 2). The abnormal posture of his trunk did not change (Video Segments 1–3). His BFM-DRS decreased to 26.5/120 (41.1% improvement) at 18 days and to 19.5/120 (56.7% improvement) at 5 months. The incidence of movement disorders associated with CS is not high; however, in their presence, they tend to be refractory to medical therapy.1,3 Progressive pathologic changes in the basal ganglia-thalamocortical motor loop4 may underlie the manifestation of abnormal movements in CS.5 In contrast to primary generalized dystonia, patients with secondary dystonia experienced less and more variable benefits from GPi-DBS.6 However, it exerted considerable effects on generalized dystonia secondary to rare neurodegenerative syndromes such as pantothenate kinase-associated neurodegeneration.7 These findings as well as ours strongly suggest

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Acknowledgments: This work was supported by a Grantin-Aid for Scientific Research from the Ministry of Education, Culture, Sports, Science, and Technology of Japan and a foundation subscribed by Hokuto Hospital, Obihiro, Hokkaido, Japan. Kiyotoshi Hamasaki, MD Kazumichi Yamada, MD, PhD* Tadashi Hamasaki, MD, PhD Jun-ichi Kuratsu, MD, PhD Department of Neurosurgery Graduate School of Medical Sciences Kumamoto University Kumamoto, Japan *Email:

that even patients with decade-long dystonia due to progressive pathological and/or anatomical changes may derive benefits from this treatment. As previously suggested, that is, phasic forms of dystonia may have a better improvement with DBS than tonic and fixed forms, dystonic tremor (and cervical muscular pain) responded promptly to GPi stimulation in our patient. His long-lasting spinal deformity might affected his mild but sustained abnormal posturing of the trunk. Despite the secondary nature of dystonia, GPi-DBS exerted beneficial effects on daily living activities in our patient. Although additional case histories must be accumulated and long-term follow-up studies are needed to clarify optimal indications, our findings suggest DBS as a potential therapeutic option to treat movement disorders in CS.3

Segment 1. Preoperatively, the patient manifests continuous right-side dominant dystonic tremor of the extremities. He cannot hold his hands out horizontally and he is unable to grasp with his right hand. Note that his cervical and craniofacial dystonia is aggravated by actions tasked to the right hand (distant part of body). Tonic dystonia in his trunk and lower extremities interfere with his walk. There is severe interference in eating. Segment 2. Eighteen days postoperatively, the dystonic tremor of the extremities disappeared. He can hold up both hands and use his right hand. Moderate cervical and craniofacial symptoms remain. His walk is steadier and he can eat by himself using his left- and occasionally his right hand. Segment 3. After 5 months of continuous GPi stimulation, he can easily hold up both hands, although mild cervical dystonia is remained. He demonstrates that he can use chop sticks with his left hand and drink with either hand.

1. Nance MA, Berry SA. Cockayne syndrome: review of 140 cases. Am J Med Genet 1992;42:68–84. 2. Tan WH, Baris H, Robson CD, Kimonis VE. Cockayne syndrome: the developing phenotype. Am J Med Genet 2005;135:214–216. 3. Hebb OM, Guadet P, Mendes I. Deep brain stimulation to treat hyperkinetic symptoms of Cockayne syndrome. Mov Disord 2006;21:113–115. 4. Eltahawy HA, Saint-Cyr J, Giladi N, Lang AE, Lozano AM. Primary dystonia is more responsive than secondary dystonia to pallidal interventions: outcome after pallidotomy or pallidal deep brain stimulation. Neurosurgery 2004;54:613–619. 5. Rapin I, Weidenheim K, Lindenbaum Y, et al. Cockayne syndrome in adults: review with clinical and pathologic study of a new case. J Child Neurol 2006;21:991–1006. 6. Mink JW. The basal ganglia and involuntary movements: impaired inhibition of competing motor patterns. Arch Neurol 2003;60:1365–1368. 7. Castelnau P, Cif L, Valente EM, et al. Pallidal stimulation improves pantothenate-kinase-associated neurodegeneration. Ann Neurol 2005;57:738–740.

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