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Four mutations of the spastin gene in Japanese families with spastic paraplegia

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タイトル: Four mutations of the spastin gene in Japanese families with spastic paraplegia
著者: Basri, Rehana 著作を一覧する
Yabe, Ichiro 著作を一覧する
Soma, Hiroyuki 著作を一覧する
Takei, Asako 著作を一覧する
Nishimura, Hiroyuki 著作を一覧する
Machino, Yuka 著作を一覧する
Kokubo, Yasumasa 著作を一覧する
Kosugi, Masafumi 著作を一覧する
Okada, Ryuichirou 著作を一覧する
Yukitake, Motohiro 著作を一覧する
Tachibana, Hisao 著作を一覧する
Kuroda, Yasuo 著作を一覧する
Kuzuhara, Shigeki 著作を一覧する
Sasaki, Hidenao 著作を一覧する
キーワード: Spastic paraplegia
Hereditary spastic paraplegia
発行日: 2006年 8月
出版者: Springer
誌名: Journal of Human Genetics
巻: 51
号: 8
開始ページ: 711
終了ページ: 715
出版社 DOI: 10.1007/s10038-006-0412-7
抄録: Hereditary spastic paraplegia (HSP) is a group of genetically heterogeneous neurodegenerative disorders characterized by slowly progressive spasticity and weakness of the lower limbs. HSP is caused by failure of development or selective degeneration of the corticospinal tracts, which contain the longest axons in humans. The most common form of HSP is caused by mutations of the spastin gene (SPAST), located on chromosome 2p21-p22, which encodes spastin, one of the ATPases associated with diverse cellular activities (AAA). In this study, we detected four causative mutations of SPAST among 14 unrelated patients with spastic paraplegia. Two missense mutations (1447A-->G, 1207C-->G) and two deletion mutations (1465delT, 1475-1476delAA) were located in the AAA cassette region. Three of these four mutations were novel. Previous reports and our results suggest that the frequency of SPAST mutations is higher among Japanese patients with autosomal dominant HSP, although SPAST mutations are also observed in patients with sporadic spastic paraplegia.
Rights: The original publication is available at
Relation (URI):
資料タイプ: article (author version)
出現コレクション:雑誌発表論文等 (Peer-reviewed Journal Articles, etc)

提供者: 矢部 一郎


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