molecular genetic analysis of the three hereditary neurodegenerative disorders specifically in Japan
| Project/Area Number |
22590939
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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 | Kagoshima University |
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Principal Investigator |
OHKUBO Ryuichi 鹿児島大学, 大学院・医歯学総合研究科, 講師 (50381166)
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| Co-Investigator(Kenkyū-buntansha) |
TAKASHIMA Hiroshi 鹿児島大学, 大学院・医歯学総合研究科, 教授 (80372803)
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| Project Period (FY) |
2010 – 2012
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| Project Status |
Completed (Fiscal Year 2012)
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| Budget Amount *help |
¥4,420,000 (Direct Cost: ¥3,400,000、Indirect Cost: ¥1,020,000)
Fiscal Year 2012: ¥1,170,000 (Direct Cost: ¥900,000、Indirect Cost: ¥270,000)
Fiscal Year 2011: ¥1,300,000 (Direct Cost: ¥1,000,000、Indirect Cost: ¥300,000)
Fiscal Year 2010: ¥1,950,000 (Direct Cost: ¥1,500,000、Indirect Cost: ¥450,000)
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| Keywords | HMSN-P / HDLS / SCA31 / 次世代シークエンサー / 白質脳症 / 若年性認知症 / HMSNP / ADLES / 脊髄小脳変性症 / ゲノム解析 |
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| Research Abstract |
We studied molecular genetics of the three hereditary neurodegenerative disorders specifically in Japan. TRK-fused gene mutation with hereditary motor and sensory neuropathy (HMSN-P) in Okinawa was identified. Clinical features of hereditary diffuse leukoencephalopathy with spheroids (HDLS) in Miyakonojo were established in detail in 1997. Accordingly CSF1R gene mutation was identified by Mayo medical school group in 2011. We identified 2.5-3.1kb repeat insertion with 16q-ADCA(SCA31). Otherwise, repeat length is not correlated with clinical feature in southern kyusyu. Furthermore, 16q-ADCA case without repeat insertion are determined. It is expected for theclarification of the pathogenesis.
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Report
(4 results)
Research Products
(20 results)
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[Journal Article] Inclusion body myositis coexisting with hypertrophic cardiomyopathy: An autopsy study2012
Author(s)
Inamori Y, Higuchi I, Inoue T, Sakiyama Y, Hashiguchi A, Higashi K, Shiraishi T, Okubo R, Arimura K, Mitsuyama Y, Takashima H.
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Journal Title
Neuromuscul Disord
Volume: 22
Issue: 8
Pages: 747-754
DOI
Related Report
Peer Reviewed
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[Journal Article] Inflammatory radiculoneuropathy in an ALS4 patient with a novel SETX mutation2012
Author(s)
Saiga T, Tateishi T, Torii T, Kawamura N, Nagara Y, Shigeto H, Hashiguchi A, Takashima H, Honda H, Ohyagi Y, Kira J.
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Journal Title
Inflammatory radiculoneuropathy in an ALS4 patient with a novel SETX mutation
Volume: 83
Issue: 7
Pages: 763-764
DOI
Related Report
Peer Reviewed
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