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

被引：247

作者：

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

机构：

[1] Wellcome Trust Ctr Human Genet, Oxford, England

[2] Royal Melbourne Hosp, Walter & Eliza Hall Inst Med Res, Parkville, Vic 3050, Australia

[3] Univ Munich, Neurol Klin, Munich, Germany

[4] Neurol Inst, Dept Clin Neurol, London, England

[5] Unite Genet Med, Brussels, Belgium

[6] Ctr Hosp Univ Bordeaux, Hop Haut Leveque, Bordeaux, France

[7] Ist Sci Neurol, Siena, Italy

[8] Univ Verona, Dept Neurol & Visual Sci, Sect Clin Neurol, I-37100 Verona, Italy

[9] Cecil B Day Lab Muscle Res, Charlestown, MA USA

[10] Duke Univ, Med Ctr, Durham, NC USA

[11] Hop Univ Strasbourg, Strasbourg, France

[12] Natl Inst Neurol & Neurosurg Manuel Velasco Suarez, Dept Genet, Mexico City, DF, Mexico

[13] Casa Cura Poliambulanza Neurol, Brescia, Italy

[14] Churchill Hosp, Dept Clin Genet, Oxford, England

来源：

NATURE GENETICS | 2001年 / 28卷 / 02期

关键词：

D O I：

10.1038/88821

中图分类号：

Q3 [遗传学];

学科分类号：

071007 ; 090102 ;

摘要：

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.

引用

页码：119 / 120

页数：2

共 13 条

[1] CHOREA-ACANTHOCYTOSIS - REPORT OF A FAMILY AND NEUROPATHOLOGICAL STUDY OF 2 CASES [J].