A conserved sorting-associated protein is mutant in chorea-acanthocytosis
- Author(s)
- 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; Carre, S; Alonso, E; Manfredi, M; Nemeth, AH; Monaco, AP;
- Details
- Publication Year 2001-06,Volume 28,Issue #2,Page 119-120
- Journal Title
- NATURE GENETICS
- Publication Type
- Journal Article
- Abstract
- 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.
- Publisher
- NATURE AMERICA INC
- Keywords
- NEUROACANTHOCYTOSIS; LOCALIZATION; KEX2P; GENES
- Publisher's Version
- https://doi.org/10.1038/88821
- Terms of Use/Rights Notice
- Refer to copyright notice on published article.
Creation Date: 2001-06-01 12:00:00