A conserved sorting-associated protein is mutant in chorea-acanthocytosis.

Journal Article (Journal Article)

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.

Full Text

Duke Authors

Cited Authors

  • Rampoldi, L; Dobson-Stone, C; Rubio, JP; Danek, A; Chalmers, RM; Wood, NW; Verellen, C; Ferrer, X; Malandrini, A; Fabrizi, GM; Brown, R; Vance, J; Pericak-Vance, M; Rudolf, G; Carrè, S; Alonso, E; Manfredi, M; Németh, AH; Monaco, AP

Published Date

  • June 2001

Published In

Volume / Issue

  • 28 / 2

Start / End Page

  • 119 - 120

PubMed ID

  • 11381253

International Standard Serial Number (ISSN)

  • 1061-4036

Digital Object Identifier (DOI)

  • 10.1038/88821

Language

  • eng

Conference Location

  • United States