Molecular epidemiology of spinocerebellar ataxia type 6

被引：29

作者：

Craig, K ^{[1
]}

Keers, SM ^{[1
]}

Archibald, K ^{[1
]}

Curtis, A ^{[1
]}

Chinnery, PF ^{[1
]}

机构：

[1] Newcastle Univ, Inst Human Genet, Newcastle Upon Tyne NE1 7RU, Tyne & Wear, England

来源：

ANNALS OF NEUROLOGY | 2004年 / 55卷 / 05期

关键词：

D O I：

10.1002/ana.20110

中图分类号：

R74 [神经病学与精神病学];

学科分类号：

摘要：

We performed a population-based clinical and molecular genetic study of spinocerebellar ataxia type 6 (SCA6) in the northeast of England. The minimum point prevalence of SCA6 was 1.59 in 100,000 (95% confidence interval [CI], 1.04-2.14), and the number of individuals who either had SCA6 or are at risk of developing SCA6 was at least 5.21 in 100,000 (95% CI, 4.31-6.10), or 1 in 19,210. Microsatellite analysis of the CACNA1A gene indicated a founder effect for SCA6 within this region.

引用

页码：752 / 755

页数：4

共 23 条

[1]

Chinnery PF, 2000, ANN NEUROL, V48, P188, DOI 10.1002/1531-8249(200008)48:2<188::AID-ANA8>3.3.CO

[2]

2-G

[3] A COMPARISON OF LINKAGE DISEQUILIBRIUM MEASURES FOR FINE-SCALE MAPPING [J].

DEVLIN, B ;

RISCH, N .

GENOMICS, 1995, 29 (02) :311-322

[4] Spinocerebellar ataxia type 6:: Evidence for a strong founder effect among German families [J].

Dichgans, M ;

Schöls, L ;

Herzog, J ;

Stevanin, G ;

Weirich-Schwaiger, H ;

Rouleau, G ;

Bürk, K ;

Klockgether, T ;

Zühlke, C ;

Laccone, F ;

Riess, O ;

Gasser, T .

NEUROLOGY, 1999, 52 (04) :849-851

[5] Spinocerebellar ataxia type 6 - Frequency of the mutation and genotype-phenotype correlations [J].

Geschwind, DH ;

Perlman, S ;

Figueroa, KP ;

Karrim, J ;

Baloh, RW ;

Pulst, SM .

NEUROLOGY, 1997, 49 (05) :1247-1251

[6] SCA8 repeat expansion:: Large CTA/CTG repeat alleles are more common in ataxic patients, including those with SCA6 [J].

Izumi, Y ;

Maruyama, H ;

Oda, M ;

Morino, H ;

Okada, T ;

Ito, H ;

Sasaki, I ;

Tanaka, H ;

Komure, O ;

Udaka, F ;

Nakamura, S ;

Kawakami, H .

AMERICAN JOURNAL OF HUMAN GENETICS, 2003, 72 (03) :704-709

[7] ADULT-ONSET HEREDITARY ATAXIA IN SCOTLAND [J].

KOEPPEN, AH ;

HANS, MB ;

SHEPHERD, DI ;

BEST, PV .

ARCHIVES OF NEUROLOGY, 1977, 34 (10) :611-618

[8] Analysis of spinocerebellar ataxia types 1, 2, 3, and 6, dentatorubral-pallidoluysian atrophy, and Friedreich's ataxia genes in spinocerebellar ataxia patients in the UK [J].

Leggo, J ;

Dalton, A ;

Morrison, PJ ;

Dodge, A ;

Connarty, M ;

Kotze, MJ ;

Rubinsztein, DC .

JOURNAL OF MEDICAL GENETICS, 1997, 34 (12) :982-985

[9]

LEONE M, 1995, ACTA NEUROL SCAND, V91, P183

[10] The spinocerebellar ataxias: order emerges from chaos. [J].

Margolis R.L. .

Current Neurology and Neuroscience Reports, 2002, 2 (5) :447-456

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