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

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Title: Four mutations of the spastin gene in Japanese families with spastic paraplegia
Authors: Basri, Rehana Browse this author
Yabe, Ichiro Browse this author →KAKEN DB
Soma, Hiroyuki Browse this author
Takei, Asako Browse this author
Nishimura, Hiroyuki Browse this author
Machino, Yuka Browse this author
Kokubo, Yasumasa Browse this author
Kosugi, Masafumi Browse this author
Okada, Ryuichirou Browse this author
Yukitake, Motohiro Browse this author
Tachibana, Hisao Browse this author
Kuroda, Yasuo Browse this author
Kuzuhara, Shigeki Browse this author
Sasaki, Hidenao Browse this author
Keywords: Spastic paraplegia
Hereditary spastic paraplegia
Issue Date: Aug-2006
Publisher: Springer
Journal Title: Journal of Human Genetics
Volume: 51
Issue: 8
Start Page: 711
End Page: 715
Publisher DOI: 10.1007/s10038-006-0412-7
PMID: 16788734
Abstract: 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
Type: article (author version)
Appears in Collections:医学院・医学研究院 (Graduate School of Medicine / Faculty of Medicine) > 雑誌発表論文等 (Peer-reviewed Journal Articles, etc)

Submitter: 矢部 一郎

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