Chorein detection for the diagnosis of chorea-acanthocytosis

被引：116

作者：

Dobson-Stone, C

Velayos-Baeza, A

Filippone, LA

Westbury, S

Storch, A

Erdmann, T

Wroe, SJ

Leenders, KL

Lang, AE

Dotti, MT

Federico, A

Mohiddin, SA

Fananapazir, L

Daniels, G

Danek, A

Monaco, AP

机构：

[1] Univ Oxford, Wellcome Trust Ctr Human Genet, Oxford OX3 7BN, England

[2] Cornell Univ, Ithaca, NY USA

[3] Univ Oxford, St Johns Coll, Oxford, England

[4] Tech Univ Dresden, Dept Neurol, D-8027 Dresden, Germany

[5] Vinznez Paul Hosp Rottemunster, Dept Neurol, Rottweil, Germany

[6] Ipswich Hosp, Dept Clin Neurol, Ipswich, Suffolk, England

[7] Univ Groningen Hosp, Groningen, Netherlands

[8] Univ Toronto, Div Neurol, Toronto, ON, Canada

[9] Univ Siena, Dept Neurobiol & Behav Sci, Sect Neurol & Neurometab Dis, Sch Med, I-53100 Siena, Italy

[10] NHLBI, CardiovascBranch, Bethesda, MD 20892 USA

[11] Bristol Inst Transfus Sci, Bristol, Avon, England

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

来源：

ANNALS OF NEUROLOGY | 2004年 / 56卷 / 02期

关键词：

D O I：

10.1002/ana.20200

中图分类号：

R74 [神经病学与精神病学];

学科分类号：

摘要：

Chorea-acanthocytosis (ChAc) is a severe, neurodegenerative disorder that shares clinical features with Huntington's disease and McLeod syndrome. It is caused by mutations in VPS13A, which encodes a large protein called chorein. Using antichorein antisera, we found expression of chorein in all human cells analyzed. However, chorein expression was absent or noticeably reduced in ChAc patient cells, but not McLeod syndrome and Huntington's disease cells. This suggests that loss of chorein expression is a diagnostic feature of ChAc.

引用

页码：299 / 302

页数：4

共 16 条

[1]

AUSUBEL FM, 1997, CURRENT POTOCOLS MOL, V2

[2]

McLeod neuroacanthocytosis: Genotype and phenotype [J].

Danek, A ;

Rubio, JP ;

Rampoldi, L ;

Ho, MF ;

Dobson-Stone, C ;

Tison, F ;

Symmans, WA ;

Oechsner, M ;

Kalckreuth, W ;

Watt, JM ;

Corbett, AJ ;

Hamdalla, HHM ;

Marshall, AG ;

Sutton, I ;

Dotti, MT ;

Malandrini, A ;

Walker, RH ;

Daniels, G ;

Monaco, AP .

ANNALS OF NEUROLOGY, 2001, 50 (06) :755-764

[3]

Mutational spectrum of the CHAC gene in patients with chorea-acanthocytosis [J].

Dobson-Stone, C ;

Danek, A ;

Rampoldi, L ;

Hardie, RJ ;

Chalmers, RM ;

Wood, NW ;

Bohlega, S ;

Dotti, MT ;

Federico, A ;

Shizuka, M ;

Tanaka, M ;

Watanabe, M ;

Ikeda, Y ;

Brin, M ;

Goldfarb, LG ;

Karp, BI ;

Mohiddin, S ;

Fananapazir, L ;

Storch, A ;

Fryer, AE ;

Maddison, P ;

Sibon, I ;

Trevisol-Bittencourt, PC ;

Singer, C ;

Caballero, IR ;

Aasly, JO ;

Schmierer, K ;

Dengler, R ;

Hiersemenzel, LP ;

Zeviani, M ;

Meiner, V ;

Lossos, A ;

Johnson, S ;

Mercado, FC ;

Sorrentino, G ;

Dupré, N ;

Rouleau, GA ;

Volkmann, J ;

Arpa, J ;

Lees, A ;

Geraud, G ;

Chouinard, S ;

Németh, A ;

Monaco, AP .

EUROPEAN JOURNAL OF HUMAN GENETICS, 2002, 10 (11) :773-+

[4]

PREPARATION AND CHEMICAL CHARACTERISTICS OF HEMOGLOBIN-FREE GHOSTS OF HUMAN ERYTHROCYTES [J].

DODGE, JT ;

HANAHAN, DJ ;

MITCHELL, C .

ARCHIVES OF BIOCHEMISTRY AND BIOPHYSICS, 1963, 100 (01) :119-&

[5]

DIAGNOSTIC-TESTS FOR CHOREOACANTHOCYTOSIS [J].

FEINBERG, TE ;

CIANCI, CD ;

MORROW, JS ;

PEHTA, JC ;

REDMAN, CM ;

HUIMA, T ;

KOROSHETZ, WJ .

NEUROLOGY, 1991, 41 (07) :1000-1006

[6]

SOLUBILIZATION AND PURIFICATION OF ENZYMATICALLY ACTIVE GLUTATHIONE-S-TRANSFERASE (PGEX) FUSION PROTEINS [J].

FRANGIONI, JV ;

NEEL, BG .

ANALYTICAL BIOCHEMISTRY, 1993, 210 (01) :179-187

[7]

A perfect message: RNA surveillance and nonsense-mediated decay [J].

Hentze, MW ;

Kulozik, AE .

CELL, 1999, 96 (03) :307-310

[8]

ISOLATION OF THE GENE FOR MCLEOD SYNDROME THAT ENCODES A NOVEL MEMBRANE-TRANSPORT PROTEIN [J].

HO, MF ;

CHELLY, J ;

CARTER, N ;

DANEK, A ;

CROCKER, P ;

MONACO, AP .

CELL, 1994, 77 (06) :869-880

[9]

MARCHESI VT, 1985, HOSP PRACT, V20, P113

[10]

MARCHESI VT, 1985, HOSP PRACT, V20, P120

← 1 2 →