| 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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| 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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