Spinocerebellar ataxia type 6:: Evidence for a strong founder effect among German families

被引：28

作者：

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

机构：

[1] Univ Munich, Klinikum Grosshadern, Dept Neurol, D-81377 Munich, Germany

[2] Ruhr Univ Bochum, St Josef Hosp, Dept Neurol, D-4630 Bochum, Germany

[3] Hop La Pitie Salpetriere, INSERM, U289, Paris, France

[4] Hop La Pitie Salpetriere, Federat Neurol, Paris, France

[5] Univ Innsbruck, Dept Human Genet, A-6020 Innsbruck, Austria

[6] McGill Univ, Montreal Gen Hosp, Res Inst, Ctr Res Neurosci, Montreal, PQ H3A 2T5, Canada

[7] Univ Tubingen, Dept Neurol, D-7400 Tubingen, Germany

[8] Univ Bonn, Dept Neurol, D-5300 Bonn, Germany

[9] Univ Lubeck, Dept Human Genet, D-2400 Lubeck, Germany

[10] Dept Human Genet, Gottingen, Germany

来源：

NEUROLOGY | 1999年 / 52卷 / 04期

关键词：

D O I：

10.1212/WNL.52.4.849

中图分类号：

R74 [神经病学与精神病学];

学科分类号：

摘要：

The authors found a strong geographic cluster of spinocerebellar ataxia type 6 (SCA6) families in the Northrhine-Westfalia area, suggesting a founder effect in the German SCA6 population. Genotyping with DNA markers linked to the CACNL1A4 gene on chromosome 19p13 revealed a common haplotype and shared allelic characteristics in the majority of German families. The observed founder effect may be related to the relative meiotic stability of CAG repeats in this type of autosomal dominant cerebellar ataxia.

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页码：849 / 851

页数：3

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