Genetic heterogeneity of dominantly inherited olivopontocerebellar atrophy (OPCA) in the Japanese: linkage study of two pedigrees and evidence for the disease locus on chromosome 12q (SCA2)

T Ihara; H Sasaki; A Wakisaka; A Takada; T Yoshiki; T Matsuura; T Hamada; Y Suzuki; K Tashiro

doi:10.1007/BF01874049

Genetic heterogeneity of dominantly inherited olivopontocerebellar atrophy (OPCA) in the Japanese: linkage study of two pedigrees and evidence for the disease locus on chromosome 12q (SCA2)

Jpn J Hum Genet. 1994 Sep;39(3):305-13. doi: 10.1007/BF01874049.

Authors

T Ihara¹, H Sasaki, A Wakisaka, A Takada, T Yoshiki, T Matsuura, T Hamada, Y Suzuki, K Tashiro

Affiliation

¹ Department of Neurology, School of Medicine, Hokkaido University, Sapporo, Japan.

PMID: 7841441
DOI: 10.1007/BF01874049

Abstract

We did a linkage study of 2 multigenerational pedigrees with dominant olivopontocerebellar atrophy (OPCA) other than SCA1, with chromosome 12q microsatellites. Multipoint linkage analysis led to the conclusion that the disease locus locates within the 6.2 cM interval between IGF1 and D12S84/D12S105. This result coincides with that of Cuban ataxia pedigrees designated as SCA2. Our study provides genetic evidence that dominant OPCA in the Japanese consists of at least two genetically different disorders; SCA1 and SCA2.

Publication types

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

MeSH terms

Adolescent
Adult
Chromosome Mapping
Chromosomes, Human, Pair 12*
Female
Genes, Dominant*
Genetic Linkage*
Humans
Japan
Male
Middle Aged
Olivopontocerebellar Atrophies / genetics*
Pedigree