Journal
NATURE GENETICS
Volume 28, Issue 2, Pages 119-120Publisher
NATURE AMERICA INC
DOI: 10.1038/88821
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Funding
- NINDS NIH HHS [2P01 NS26630] Funding Source: Medline
- Telethon [359/B] Funding Source: Medline
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Chorea-acanthocytosis (CHAC. MIM 200150) is an autosomal recessive neurodegenerative disorder characterized by the gradual onset of hyperkinetic movements and abnormal erythrocyte morphology(1,2) (acanthocytosis). Neurological findings closely resemble those observed in Huntington disease(3-8). We identified a gene in the CHAC critical region(9) and found 16 different mutations in individuals with chorea-acanthocytosis. CHAC encodes an evolutionarily conserved protein that is probably involved in protein sorting.
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