Huntingtons Disease Huntingtons Disease is an autosomal dominant condition, caused by an increase of trinucleotide CAG repeats in the HTT gene.

Huntingtons Disease is usually asymptomatic until a mean of 35-44 years1. After onset, the median survival time is 15 to 18 years. Individuals afflicted by Huntingtons Disease, will experience a variety of motor, sensory and psychiatric symptoms. As the disease progresses, involuntary muscle movement (Chorea) incapacitates most patients from providing for themselves. Eventually patients will lose complete control of their bodies. People suffering from Huntington's Disease also often experience dementia and other psychiatrical symptoms including hallucinations, depression and anxiety. The HTT gene is on on the fourth chromosome. The probability of someone having Huntington's, is determined by allele size and number of CAG repeats. An unaffected individual has less than 26 CAG repeats. Individuals with 27- 35 CAG repeats are not at risk for developing symptoms, however their children are at increased risk. Individuals with 36-39 CAG repeats are at considerable risk for Huntington's, but the severity of the disease is unknown. Individuals with 40 or more CAG repeats are expected to develop Huntington's with great certainty. Southern blotting can be used to diagnose Huntington's. This procedure examines the size of the HTT gene, by isolating the genomic DNA. The genomic DNA is then fragmented, leaving the HTT gene intact. The genomic DNA is then run on a gel and transferred to a membrane. The DNA is crosslinked to the membrane and the membrane is probed with a HTT specific radioactive probe. Individuals positive for HTT will have the HTT band appear higher on the gel due to the increased size of the gene when compared to normal individuals. There are currently no effective treatments available. Most medications used, focus on improving quality of life and reducing symptoms. Tranquilizers like clonazepam and antipsychotic drugs such as haloperidol and clozapine can help reduce hallucinations and involuntary movement. Antidepressants like fluoxetine are used to treat the depression frequently associated with Huntington's. Lithium is also often used to control mood swings. Physical therapy is used to improve muscle strength and flexibility, occupational therapy can be used to support individuals with everyday challenges and safety. Speech therapy is used to maintain linguistic skills as the disease progresses. Bibliography: http://www.medicinenet.com/huntington_disease/article.htm http://www.huntingtonsociety.ca/english/content/?page=91 http://bodyandhealth.canada.com/condition_info_details.asp?disease_id=72 Excitotoxic mechanisms in huntingon's disease by Dr Andrew Freese, MIT 1991

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