2010 Fiscal Year Final Research Report
Genetic epidemiology of hereditary spastic paraplegia (HSP) in Japan and Identification of novel mutations in HSP genes
| Project/Area Number |
20591009
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| Research Category |
Grant-in-Aid for Scientific Research (C)
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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 | Jichi Medical University |
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Principal Investigator |
SHIMAZAKI Haruo Jichi Medical University, 医学部, 講師 (30316517)
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| Project Period (FY) |
2008 – 2010
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| Keywords | 遺伝性痙性対麻痺 / 多施設共同研究 / 遺伝子解析 / 連鎖解析 |
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| Research Abstract |
We have corrected 260 clinical findings and DNAs from Japanese hereditary spastic paraplegia (HSP) families. We could identify several novel mutations of reported HSP genes using our comprehensive genomic analysis systems. Genetic epidemiological finding of HSP in Japan has been becoming clearer. We also revealed new type of HSP with optic atrophy and peripheral neuropathy. Linkage study disclosed that genetic locus of this HSP was assigned to different from other HSP loci. Exome sequencing could identify novel candidate gene mutations for this HSP.
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