Huntington Disease


Huntington disease is a serious neurodegenerative disorder resulting from an expanded CAG repeat in a specific gene on chromosome 4. The highly specific mutation allows accurate diagnostic and predictive testing; our increasing understanding of how the expanded polyglutamine sequence in the protein huntingtin causes neuronal damage gives promise for the development of effective future therapies. Huntington disease provides a valuable model for many genetic aspects of lateā€onset inherited disorders.

Keywords: Huntington disease; CAG repeat; polyglutamine repeat; huntingtin; predictive testing

Further Reading

Bates G, Harper PS and Jones AL (eds.) (2002) Huntington's Disease. New York, NY: Oxford University Press.

Bloch M, Adam S, Wiggins S, Huggins M and Hayden MR (1992) Predictive testing for Huntington disease in Canada: the experience of those receiving an increased risk. American Journal of Medical Genetics 42: 499–507.

Codori AM and Brandt J (1994) Psychological costs and benefits of predictive testing for Huntington disease. American Journal of Medical Genetics (Neuropsychiatric Genetics) 54: 174–184.

Durbach N and Hayden M (1993) George Huntington: the man behind the eponym. Journal of Medical Genetics 30: 406–409.

Harper PS (1992) Huntington disease and the abuse of genetics. American Journal of Human Genetics 50: 460–464.

Harper PS (ed.) (1996) Huntington's Disease. London, UK: WB Saunders.

Harper PS, Lim C and Craufurd D (2000) Ten years of presymptomatic testing for Huntington's disease: the experience of the UK Huntington's Disease Prediction Consortium. Journal of Medical Genetics 37: 567–571.

Harper PS and Perutz M (eds.) (2001) Glutamine Repeats and Neurodegenerative Diseases: Molecular Aspects. Oxford, UK: Oxford University Press.

Huntington G (1872) On chorea. Medical and Surgical Reporter 26: 320–321.

Huntington Disease Collaborative Research Group (1993) A novel gene containing a trinucleotide repeat that is expanded and unstable in Huntington disease chromosomes. Cell 72: 971–983.

Mangiarini L, Sathasivam K, Seller M, et al. (1996) Exon 1 of the HD gene with an expanded CAG repeat is sufficient to cause a progressive neurological phenotype in transgenic mice. Cell 87: 493–506.

Perutz MF, Johnson T, Suzuki M and Finch JT (1994) Glutamine repeats as polar zippers: their possible role in inherited neurodegenerative disease. Proceedings of the National Academy of Sciences of the United States of America 91: 355–3787.

Web Links

HD(huntingtin); LocusID: 3064. LocusLink:

HD(huntingtin); MIM number: 143100. OMIM:‐post/Omim/dispmim?143100

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How to Cite close
Harper, Peter S(Jul 2006) Huntington Disease. In: eLS. John Wiley & Sons Ltd, Chichester. [doi: 10.1038/npg.els.0005150]