| Literature DB >> 11381253 |
L Rampoldi1, C Dobson-Stone, J P Rubio, A Danek, R M Chalmers, N W Wood, C Verellen, X Ferrer, A Malandrini, G M Fabrizi, R Brown, J Vance, M Pericak-Vance, G Rudolf, S Carrè, E Alonso, M Manfredi, A H Németh, A P Monaco.
Abstract
Chorea-acanthocytosis (CHAC, MIM 200150) is an autosomal recessive neurodegenerative disorder characterized by the gradual onset of hyperkinetic movements and abnormal erythrocyte morphology (acanthocytosis). Neurological findings closely resemble those observed in Huntington disease. We identified a gene in the CHAC critical region and found 16 different mutations in individuals with chorea-acanthocytosis. CHAC encodes an evolutionarily conserved protein that is probably involved in protein sorting.Entities:
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Year: 2001 PMID： 11381253 DOI： 10.1038/88821
Source DB: PubMed Journal: Nat Genet ISSN： 1061-4036 Impact factor: 38.330