reviewEuropean Journal of NeurologyAug 17, 2017HYBRID OA

Huntington's disease: a clinical review

PMPeter McColganSJSarah J. Tabrizi

Huntington's Disease Association · University College London · +1 more institution

PubMed
Indexed incrossrefdoajpubmed

Abstract

Huntington's disease (HD) is a fully penetrant neurodegenerative disease caused by a dominantly inherited CAG trinucleotide repeat expansion in the huntingtin gene on chromosome 4. In Western populations HD has a prevalence of 10.6-13.7 individuals per 100 000. It is characterized by cognitive, motor and psychiatric disturbance. At the cellular level mutant huntingtin results in neuronal dysfunction and death through a number of mechanisms, including disruption of proteostasis, transcription and mitochondrial function and direct toxicity of the mutant protein. Early macroscopic changes are seen in the striatum with involvement of the cortex as the disease progresses. There are currently no disease modifying…

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Authors

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Topics & keywords

Topics
Keywords
  • Huntingtin
  • Huntington's disease
  • Huntingtin Protein
  • Disease
  • Medicine
  • Trinucleotide repeat expansion
  • Proteostasis
  • Neuroscience
UN Sustainable Development Goals
  • Good health and well-being
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