Journal article
A disorder similar to Huntington's disease is associated with a novel CAG repeat expansion
Annals of neurology, Vol.50(6), pp.373-380
12/2001
DOI: 10.1002/ana.1312
PMID: 11761463
Abstract
Huntington's disease (HD) is an autosomal dominant disorder characterized by abnormalities of movement, cognition, and emotion and selective atrophy of the striatum and cerebral cortex. While the etiology of HD is known to be a CAG trinucleotide repeat expansion, the pathways by which this mutation causes HD pathology remain unclear. We now report a large pedigree with an autosomal dominant disorder that is clinically similar to HD and that arises from a different CAG expansion mutation. The disorder is characterized by onset in the fourth decade, involuntary movements and abnormalities of voluntary movement, psychiatric symptoms, weight loss, dementia, and a relentless course with death about 20 years after disease onset. Brain magnetic resonance imaging scans and an autopsy revealed marked striatal atrophy and moderate cortical atrophy, with striatal neurodegeneration in a dorsal to ventral gradient and occasional intranuclear inclusions. All tested affected individuals, and no tested unaffecteds, have a CAG trinucleotide repeat expansion of 50 to 60 triplets, as determined by the repeat expansion detection assay. Tests for the HD expansion, for all other known CAG expansion mutations, and for linkage to chromosomes 20p and 4p were negative, indicating that this mutation is novel. Cloning the causative CAG expansion mutation for this new disease, which we have termed Huntington's disease‐like 2 (HDL2), may yield valuable insight into the pathogenesis of HD and related disorders.
Details
- Title: Subtitle
- A disorder similar to Huntington's disease is associated with a novel CAG repeat expansion
- Creators
- Russell L MargolisElizabeth O'HearnAdam RosenblattVirginia WillourSusan E HolmesMary L FranzColleen CallahanHyon S HwangJuan C TroncosoChristopher A Ross
- Resource Type
- Journal article
- Publication Details
- Annals of neurology, Vol.50(6), pp.373-380
- DOI
- 10.1002/ana.1312
- PMID
- 11761463
- NLM abbreviation
- Ann Neurol
- ISSN
- 0364-5134
- eISSN
- 1531-8249
- Publisher
- Wiley Subscription Services, Inc., A Wiley Company; New York
- Number of pages
- 7
- Grant note
- Huntington's Disease Society of America Hereditary Disease Foundation National Institutes of Health (NS16375; MH10275; NS38054)
- Language
- English
- Date published
- 12/2001
- Academic Unit
- Psychiatry; Iowa Neuroscience Institute
- Record Identifier
- 9984003434202771
Metrics
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