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  会員専用

• ホーム
• 50巻11号
• 臨床神経, 50：858−860, 2010
• 50巻11号目次

第51回日本神経学会総会

＜シンポジウム03―4＞神経難病の克服―単一遺伝子病からのアプローチ―
SCA6―原因の同定から治療法の開発に向けて―

渡瀬　啓^1）, 石川　欽也^2）, 水澤　英洋^1）2）

^1）東京医科歯科大学脳統合機能研究センター〔〒113―8510 東京都文京区湯島1―5―45〕
^2）同　大学院脳神経病態学

Spinocerebellar ataxia type 6 (SCA6) is one of the common dominantly inherited ataxias in Japan, featuring late-onset ataxia and selective Purkinje cell (PC) degeneration. Molecular pathogenesis of SCA6 has been attracting considerable attention since it is caused by small CAG repeat expansions within the Cav₂.1 voltage-gated Ca⁺⁺ channel gene (CACNA1A). During the past 9 years, efforts have been made to generate and analyze a precise SCA 6 model in order to disclose its molecular pathogenesis in vivo. Evidence indicates that the SCA6 mutation does not directly change the basic properties of the channel but rather exerts neurotoxicity through a mechanism associated with age-dependent accumulation of the expanded polyglutamine protein. We envisage further analysis on a knockin model developing PC degeneration at their young age will lead to elucidation of the molecular pathways involved in SCA6 and thus be useful for developing therapeutic strategies against the disease.
Full Text of this Article in Japanese PDF (254K)

(臨床神経, 50：858−860, 2010)
key words：脊髄小脳変性症6型，ポリグルタミン病，プルキンエ細胞，ノックインマウス，Cav₂.1チャネル

（受付日：2010年5月21日）