GENETIC-HETEROGENEITY OF DOMINANTLY INHERITED OLIVOPONTOCEREBELLAR ATROPHY (OPCA) IN THE JAPANESE - LINKAGE STUDY OF 2 PEDIGREES AND EVIDENCE FOR THE DISEASE LOCUS ON CHROMOSOME-12Q (SCA2)

Authors
IHARA T SASAKI H WAKISAKA A TAKADA A YOSHIKI T MATSUURA T HAMADA T SUZUKI Y TASHIRO K
Citation
T. Ihara et al., GENETIC-HETEROGENEITY OF DOMINANTLY INHERITED OLIVOPONTOCEREBELLAR ATROPHY (OPCA) IN THE JAPANESE - LINKAGE STUDY OF 2 PEDIGREES AND EVIDENCE FOR THE DISEASE LOCUS ON CHROMOSOME-12Q (SCA2), JPN J HUM G, 39(3), 1994, pp. 305-313
Citations number
14
Categorie Soggetti
Genetics & Heredity
Journal title
Japanese journal of human genetics → ACNP
ISSN journal
09168478
Volume
39
Issue
3
Year of publication
1994
Pages
305 - 313
Database
ISI
SICI code
0916-8478(1994)39:3<305:GODIOA>2.0.ZU;2-8
Abstract
We did a linkage study of 2 multigenerational pedigrees with dominant olivopontocerebellar atrophy (OPCA) other than SCA1, with chromosome 1 2q 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 p edigrees designated as SCA2. Our study provides genetic evidence that dominant OPCA in the Japanese consists of at least two genetically dif ferent disorders; SCA1 and SCA2.