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Diseases of DNA Repair pp 45–63Cite as

Huntington’s Disease

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Part of the book series: Advances in Experimental Medicine and Biology ((AEMB,volume 685))

Abstract

Huntington’s disease (HD) is one of the most frequently found neurodegenerative disorders. Its main clinical manifestations arc chorea, cognitive impairment and psychiatric disorders. It is an autosomal-dominant disorder with almost complete penetrance. The mutation responsible for HD, unstable expansion of a CAG repcat, is located in the 5′ tcrminal section of the gene (ITJS) that encodes huntingtin protein (Htt). The pathophysiology of HD is not entirely clear. One intriguing characteristic of HD is the special vulnerability of the striatum tomutated Htt, despite similar expression of the mutated protcin in other brain regions. Aggregation of mutated Htt, transcriptional dysregulation, altered energy metabolism, excitotoxicity, impaired axonal transport and altered synaptic transmission culminate in neuronal dysfianction and death. There is currently no way ofpreventing or slowing down the disease progression and death usually occurs at about 20 years after dia

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Authors and Affiliations

  1. UMRS 952, INSERM UMR 7224-CNRS, Université Pierre et Marie Curie, Paris, France

    Emmanuel Roze, Sandrine Betuing & Jocelyne Caboche

  2. Pôle des maladies du système nerveux Fédération de neurologie, Hopital Pitié-Salpétrière, Paris, France

    Emmanuel Roze & Cecilia Bonnet

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  1. Emmanuel Roze
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  2. Cecilia Bonnet
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  4. Jocelyne Caboche
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Correspondence to Emmanuel Roze .

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  1. School of Science and Technology, Nottingham Trent University, Nottingham, UK

    Shamim I. Ahmad BSc, MSc, PhD

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Roze, E., Bonnet, C., Betuing, S., Caboche, J. (2010). Huntington’s Disease. In: Ahmad, S.I. (eds) Diseases of DNA Repair. Advances in Experimental Medicine and Biology, vol 685. Springer, New York, NY. https://doi.org/10.1007/978-1-4419-6448-9_5

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