James F Gusella, Massachusetts General Hospital, Charlestown, Massachusetts, USA
Published online: April 2001
DOI: 10.1038/npg.els.0000147
Huntington disease is an inherited neurodegenerative disorder caused by a gene defect on chromosome 4 that causes selective loss of neurons, particularly in the striatum. The ‘gain-of-function’ mutation involves an expanded CAG trinucleotide repeat that produces a long tract of consecutive glutamine residues in huntingtin, a large protein of unknown function.
Keywords: neurodegeneration; polyglutamine disorder; movement disorder
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Figure 1. Huntington
disease (HD) CAG allele lengths, age at neurological onset, and age at death.
The lengths of CAG repeat in normal and disease alleles are plotted separately
as a percentage of each class for a collection of 307 patients with
HD, based
on genotyping of postmortem brain specimens. Fitted curves for age at
neurological onset and age at death for the same patients demonstrate the
relationship between these parameters and disease allele CAG length.
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| Further Reading | |
| Gusella JF, Wexler NS, Conneally PM et al. (1983) A polymorphic DNA marker genetically linked to Huntington's disease. Nature 306: 234–238. | |
| Huntington G (1872) On chorea. Medical and Surgical Reporter of Philadelphia 26: 317–321. | |
| Huntington's Disease Collaborative Research Group (1993) A novel gene containing a trinucleotide repeat that is expanded and unstable on Huntington's disease chromosomes. Cell 72: 971–983. | |
| Martin JB and Gusella JF (1986) Huntington's disease – pathogenesis and management. New England Journal of Medicine 315: 1267–1276. | |
| book McGeer PL (ed.) (2000) "Focus on Huntington's disease". Neuroscience News 3 (2–3): 1–93. | |
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