Chromosomal assignment of the second locus for autosomal dominant cerebellar ataxia (SCA2) to chromosome 12q23-24.1

S Gispert; R Twells; G Orozco; A Brice; J Weber; L Heredero; K Scheufler; B Riley; R Allotey; C Nothers

doi:10.1038/ng0793-295

Chromosomal assignment of the second locus for autosomal dominant cerebellar ataxia (SCA2) to chromosome 12q23-24.1

Nat Genet. 1993 Jul;4(3):295-9. doi: 10.1038/ng0793-295.

Authors

S Gispert¹, R Twells, G Orozco, A Brice, J Weber, L Heredero, K Scheufler, B Riley, R Allotey, C Nothers, et al.

Affiliation

¹ Department of Neurology, University Hospital, Duesseldorf, Germany.

PMID: 8358438
DOI: 10.1038/ng0793-295

Abstract

The autosomal dominant cerebellar ataxias (ADCA) are a group of neurodegenerative disorders characterized by onset with gait ataxia, dysarthria, dysmetria and dysdiadochokinesia. We have demonstrated previously genetic heterogeneity within these disorders by excluding the disease locus from the documented spinocerebellar ataxia locus (SCA1) on chromosome 6p in a large Cuban founder population. We now report the assignment of a second locus for ADCA (SCA2) to chromosome 12q23-24.1 following linkage analyses carried out for the Cuban pedigrees, with probable flanking markers D12S58 and phospholipase A2. Investigation of linkage to the interval containing SCA2 for seven French ADCA families, previously excluded from linkage to SCA1, provides preliminary data suggesting the existence of a third ADCA locus (SCA3).

Publication types

Research Support, Non-U.S. Gov't
Research Support, U.S. Gov't, Non-P.H.S.
Research Support, U.S. Gov't, P.H.S.

MeSH terms

Chromosome Mapping
Chromosomes, Human, Pair 12*
Cuba
Female
France
Genes, Dominant
Genetic Linkage
Genetic Markers
Humans
Male
Pedigree
Spinocerebellar Degenerations / genetics*

Substances

Genetic Markers