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

^*Korrespondierende/r Autor/-in für diese Arbeit

Institut für Humangenetik

34 Zitate (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.

Originalsprache	Englisch
Zeitschrift	Neurology
Jahrgang	52
Ausgabenummer	4
Seiten (von - bis)	849-851
Seitenumfang	3
ISSN	0028-3878
DOIs	https://doi.org/10.1212/wnl.52.4.849
Publikationsstatus	Veröffentlicht - 10.03.1999

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title = "Spinocerebellar ataxia type 6: Evidence for a strong founder effect among German families",

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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doi = "10.1212/wnl.52.4.849",

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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.

UR - https://www.scopus.com/pages/publications/0344699331

U2 - 10.1212/wnl.52.4.849

DO - 10.1212/wnl.52.4.849

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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