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Huntington’s Disease: Recent Advances in Diagnosis and Management

Published online by Cambridge University Press:  18 September 2015

Sarah Furtado  and
Oksana Suchowersky
Sarah Furtado*
Affiliation:
Department of Clinical Neurosciences, Faculty of Medicine, The University of Calgary, Calgary
Oksana Suchowersky*
Affiliation:
Department of Clinical Neurosciences, Faculty of Medicine, The University of Calgary, Calgary
*
Department of Clinical Neurosciences, The University of Calgary, 1403 – 29 Street N.W, Calgary, Alberta, Canada T2N 2T9
Department of Clinical Neurosciences, The University of Calgary, 1403 – 29 Street N.W, Calgary, Alberta, Canada T2N 2T9
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Abstract:

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Huntington’s Disease (HD) is a progressive degenerative disorder of the central nervous system inherited as an autosomal dominant trait. Clinically, the disorder is characterized by choreoathetosis (with age of onset typically in the late thirties or early forties) and neuropsychiatric disturbance. The striatum is particularly vulnerable to the degenerative disease process, with selective loss of medium spiny neurons and decreased levels of associated neurotransmitters, including substance P, GABA, met-enkephalin and dynorphin. Although the underlying pathophysiology is unknown, recent theories concerning pathogenesis have involved mitochondrial abnormalities and excitotoxin-mediated damage. The gene for HD has recently been discovered and characterized as an unstable CAG trinucleotide repeat sequence on the short arm of chromosome 4 (now known as IT 15). The direct test now available for the HD gene has facilitated disease diagnosis, particularly for those with unclear family history or chorea of uncertain origin; presymptomatic testing is also available. Management of affected individuals is unsatisfactory as only symptomatic control is available. However, as the effect of the genetic abnormality may soon be known, specific treatment of the disorder may become available in the near future.

Type
Review Article
Information
Canadian Journal of Neurological Sciences , Volume 22 , Issue 1 , February 1995 , pp. 5 - 12
Copyright
Copyright © Canadian Neurological Sciences Federation 1995

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