Diseases of DNA Repair pp 45-63

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

Huntington’s Disease

  • Emmanuel Roze
  • Cecilia Bonnet
  • Sandrine Betuing
  • Jocelyne Caboche

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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Copyright information

© Landes Bioscience and Springer Science+Business Media 2010

Authors and Affiliations

  • Emmanuel Roze
    • 1
    • 2
  • Cecilia Bonnet
    • 2
  • Sandrine Betuing
    • 1
  • Jocelyne Caboche
    • 1
  1. 1.UMRS 952, INSERM UMR 7224-CNRSUniversité Pierre et Marie CurieParisFrance
  2. 2.Pôle des maladies du système nerveux Fédération de neurologieHopital Pitié-SalpétrièreParisFrance

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