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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) |
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| Authors: | Tatsuo Ihara Hidenao Sasaki Akemi Wakisaka Akio Takada Takashi Yoshiki Tohru Matsuura Takeshi Hamada Yoshihiro Suzuki Kunio Tashiro |
| Affiliation: | (1) Department of Neurology, School of Medicine, Hokkaido University, Kita-ku, 060 Sapporo, Japan;(2) First Department of Pathology, School of Medicine, Hokkaido University, Kita-ku, 060 Sapporo, Japan;(3) Hokuyukai Neurological Hospital, 060 Sapporo, Japan;(4) Third Department of Internal Medicine, School of Medicine, Yamagata University, 990-23 Yamagata, Japan |
| Abstract: | Summary 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. |
| Keywords: | spinocerebellar ataxia hereditary olivopontocerebellar atrophy genetic heterogeneity SCA2 linkage analysis |
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