Sci. Aging Knowl. Environ., 29 October 2003
Vol. 2003, Issue 43, p. dn3
[DOI: 10.1126/sageke.2003.43.dn3]

NEURODEGENERATIVE DISEASE CASE STUDIES

Huntington's Disease

Mark Groves, Jean-Paul Vonsattel, Pietro Mazzoni, and Karen Marder

Mark Groves is in the Departments of Neurology and Psychiatry, Beth Israel Medical Center, New York, NY 10003, USA. Jean-Paul Vonsattel is at the Taub Institute for Research on Alzheimer's Disease and the Aging Brain, and in the Department of Pathology, Columbia University College of Physicians and Surgeons, New York, NY 10032, USA. Pietro Mazzoni is in the Department of Neurology, Columbia University College of Physicians and Surgeons, New York, NY 10032, USA. Karen Marder is at the Taub Institute for Research on Alzheimer's Disease and the Aging Brain, the Sergievsky Center, and in the Departments of Neurology and Psychiatry, Columbia University College of Physicians and Surgeons, New York, NY 10032, USA. E-mail: mgroves{at}chpnet.org (M.G.)

http://sageke.sciencemag.org/cgi/content/full/sageke;2003/43/dn3

Key Words: Huntington's disease • basal ganglia disease • neurodegeneration • chorea

Abstract: In this case study, we describe the symptoms, neurological exam, neuropsychological test results, and brain pathology of a man who died with Huntington's disease (HD). HD is a rare neurodegenerative disease. Like other movement disorders involving the basal ganglia, HD affects motor, cognitive, and psychiatric functioning. The disease follows an autosomal dominant pattern of inheritance, with onset of symptoms most commonly occurring in the late 30s or early 40s, as in this patient. HD is caused by an unstable expansion of the trinucleotide CAG, coding for glutamine, on chromosome 4. Despite knowledge of the gene mutation responsible for HD, no definitive treatment is currently available to slow or halt progression of the disease. However, symptomatic treatment can significantly improve the quality of life for patients with HD.

Citation: M. Groves, J.-P. Vonsattel, P. Mazzoni, K. Marder, Huntington's Disease. Sci. Aging Knowl. Environ. 2003 (43), dn3 (2003).

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