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

M. Dichgans; M. Schöls; J. Herzog; G. Stevanin; H. Weirich-Schwaiger; G. Rouleau; K. Bürk; T. Klockgether; C. Zühlke; F. Laccone; O. Riess; T. Gasser

doi:10.1212/wnl.52.4.849

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

M. Dichgans^*, M. Schöls, J. Herzog, G. Stevanin, H. Weirich-Schwaiger, G. Rouleau, K. Bürk, T. Klockgether, C. Zühlke, F. Laccone, O. Riess, T. Gasser

^*Corresponding author for this work

Institute of Human Genetics

32 Citations (Scopus)

Abstract

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.

Original language	English
Journal	Neurology
Volume	52
Issue number	4
Pages (from-to)	849-851
Number of pages	3
ISSN	0028-3878
DOIs	https://doi.org/10.1212/wnl.52.4.849
Publication status	Published - 10.03.1999

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Research Area: Medical Genetics

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abstract = "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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AU - Dichgans, M.

AU - Schöls, M.

AU - Herzog, J.

AU - Stevanin, G.

AU - Weirich-Schwaiger, H.

AU - Rouleau, G.

AU - Bürk, K.

AU - Klockgether, T.

AU - Zühlke, C.

AU - Laccone, F.

AU - Riess, O.

AU - Gasser, T.

PY - 1999/3/10

Y1 - 1999/3/10

N2 - 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.

AB - 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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M3 - Journal articles

C2 - 10078738

AN - SCOPUS:0344699331

SN - 0028-3878

VL - 52

SP - 849

EP - 851

JO - Neurology

JF - Neurology

IS - 4

ER -

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

Abstract

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