| Project/Area Number |
07407017
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| Research Category |
Grant-in-Aid for Scientific Research (A)
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| Allocation Type | Single-year Grants |
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| Section | 一般 |
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| Research Field |
Neurology
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| Research Institution | HOKKAIDO UNIVERSITY |
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Principal Investigator |
TASHIRO Kunio Hokkaido Univ., Fac.of Med., Pro., 医学部, 教授 (90002154)
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| Co-Investigator(Kenkyū-buntansha) |
SASAKI Hidenao Hokkaido Univ., Fac.of Med., Assi.Pro., 医学部, 講師 (80281806)
WAKISAKA Akemi Hokkaido Univ., Fac.of Med., Asso.Pro., 医学部, 助教授 (90113646)
MORIWAKA Fumio Hokkaido Univ., Fac.of Med., Asso.Pro., 医学部, 助教授 (30142722)
松浦 亨 北海道大学, 医学部・附属病院, 助手 (90271676)
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| Project Period (FY) |
1995 – 1997
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| Project Status |
Completed (Fiscal Year 1997)
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| Budget Amount *help |
¥32,800,000 (Direct Cost: ¥32,800,000)
Fiscal Year 1997: ¥3,000,000 (Direct Cost: ¥3,000,000)
Fiscal Year 1996: ¥4,300,000 (Direct Cost: ¥4,300,000)
Fiscal Year 1995: ¥25,500,000 (Direct Cost: ¥25,500,000)
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| Keywords | Spinocerebellar ataxia / SCA1 / SCA2 / Machado-Joseph disease / CAG repeat / SCA6 / Gene mutation / Gene locus / triplet repeat病 / 遺伝子 |
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| Research Abstract |
We performed a research for dominantly inherited spinocerebellar ataxias (SCAs) in the Japanese, with aims to determine the loci, specific gene mutations, and correlations with phenotype variation of each disorders. Our studies for linkage and genotyping of SCA disclosed the precise location of MJD gene on Chromosome 14, the frequency of each dominant SCA in Japan, correlatation for the size of mutnat allele with clinical parameters, and founder effect of mutant allele in the Japanese. Based on these molecular diagnosis, clinical phenotype and its variation were studied for SCAl, SCA2, and MJD.We first identifed chromosome -2p linked familial spastic paraplegia in Japan. Genotypeing of SCA6 disclosed that the disorder shared approximately half of dominant cortical cerebellar atrophy in the Japanese ; the remainders are genetically heterogenous and specific mutations of them are unknown.
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