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HUNTINGTON'S DISEASE: FROM MOLECULAR PATHOGENESIS TO CLINICAL TREATMENT

Abstract

Srijita Dutta

Huntington disease (HD) is a rare neurodegenerative disorder of the central nervous system characterized by unwanted choreatic movements, behavioral and psychiatric disturbances and dementia. Prevalence in the Caucasian population is estimated at 1/10,000-1/20,000. Mean age at onset of symptoms is 30-50 years. In some cases symptoms start before the age of 20 years with behavior disturbances and learning difficulties at school. HD is an autosomal dominant inherited disease caused by an elongated CAG repeat (36 repeats or more) on the short arm of chromosome 4p16.3 in the Huntingtine gene. Diagnosis is based on clinical symptoms and signs in an individual with a parent with proven HD, and is confirmed by DNA determination. There is no cure. Management should be multidisciplinary and is based on treating symptoms with a view to improving quality of life. The progression of the disease leads to a complete dependency in daily life, which results in patients requiring full-time care, and finally death. Thus, Huntington's disease is also emerging as a model for strategies to develop therapeutic interventions, not only to slow progression of manifest disease but also to delay, or ideally prevent, its onset

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