2011 Fiscal Year Final Research Report
Translational study of molecular pathogenesis on dystonia and developing its novel therapeutic interventions
| Project/Area Number |
21390269
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| Research Category |
Grant-in-Aid for Scientific Research (B)
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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 | The University of Tokushima |
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Principal Investigator |
KAJI Ryuji 徳島大学, 大学院・ヘルスバイオサイエンス研究部, 教授 (00214304)
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| Co-Investigator(Kenkyū-buntansha) |
GOTO Satoshi 徳島大学, 病院, 講師 (50240916)
ASANUMA Koutaro 徳島大学, 大学院・ヘルスバイオサイエンス研究部, 講師 (80448323)
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| Project Period (FY) |
2009 – 2011
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| Keywords | 臨床神経生理学 |
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| Research Abstract |
Dystonia is about one fourth as frequent as parkinsonism, and is not a rare disorder. It incapacitates sufferers to be bed-ridden if advanced. We for the first time found the gene(TAF-1) causing a hereditary dystonia DYT3, which is now being reported in Japan. It is therefore important to search for its pathogenesis and therapy. We previously found selective loss of neurons in striosome in the striatum of the basal ganglia in DYT3 autopsied brains. In this research, we found that NTAF-1, a neuron-specific isoform of TAF-1 is mainly localized in the striosome, which links the molecular pathogenesis with pathological and clinical findings.
We also reported clinical usefulness of zolpidem for treating dystonia in general. We developed a screening test for DYT3 dystonia, and tried a surgical treatment on a DYT3 patient with excellent outcomes.
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