Spinocerebellar ataxia type 6: Evidence for a strong founder effect among German families
- 1 March 1999
- journal article
- Published by Wolters Kluwer Health in Neurology
- Vol. 52 (4) , 849
- https://doi.org/10.1212/wnl.52.4.849
Abstract
Article 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.Keywords
This publication has 10 references indexed in Scilit:
- Spinocerebellar ataxia type 6: genotype and phenotype in German kindredsJournal of Neurology, Neurosurgery & Psychiatry, 1998
- Autosomal dominant cerebellar ataxia: Phenotypic differences in genetically defined subtypes?Annals of Neurology, 1997
- Spinocerebellar ataxia type 6: CAG repeat expansion in α1a voltage‐dependent calcium channel gene and clinical variations in japanese populationAnnals of Neurology, 1997
- Spinocerebellar ataxia type 6Neurology, 1997
- Clinical and molecular features of spinocerebellar ataxia type 6Neurology, 1997
- Spinocerebellar ataxia type 6Neurology, 1997
- The expansion of the CAG repeat in ataxin-2 is a frequent cause of autosomal dominant spinocerebellar ataxiaNeurology, 1997
- Episodic Ataxia Type 2 (EA2) and Spinocerebellar Ataxia Type 6 (SCA6) Due to CAG Repeat Expansion in the CACNA1A Gene on Chromosome 19pHuman Molecular Genetics, 1997
- Molecular features of the CAG repeats of spinocerebellar ataxia 6 (SCA6)Human Molecular Genetics, 1997
- Autosomal dominant cerebellar ataxia (SCA6) associated with small polyglutamine expansions in the α1A-voltage-dependent calcium channelNature Genetics, 1997