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多系統萎縮症は原因不明の神経変性疾患であり,孤発性疾患と考えられてきたが,近年家族内発症例が発見され,その遺伝因子が注目されている。本疾患の遺伝因子と自然歴を解明するため,JAMSAC(JApan Multiple System Atrophy Research Consortium)という多施設共同研究体制が構築され,ゲノムリソースと臨床情報の収集を行っている。このような多施設共同研究体制は,今後多くの神経変性疾患研究においても発展するものと期待される。
Although MSA has been regarded as a sporadic disease, we have recently experienced families in which multiple siblings are affected with MSA, suggesting involvement of genetic component in the pathogenesis of MSA. Based on this experience, we have started molecular genetic approaches to identify genes involved in MSA. We have established multicenter-based consortium on MSA(JAMSAC;JApan MSA research Consortium). The aim of this consortium is(1)to identify genes involved in the pathogenesis on MSA, and(2)to clarify natural history of MSA. The multi-center based consortium is expected highly fruitful for elucidating molecular etiologies of neurodegenerative diseases.
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