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タイトル
  • en Four mutations of the spastin gene in Japanese families with spastic paraplegia
作成者
    • en Basri, Rehana
    • en Soma, Hiroyuki
    • en Takei, Asako
    • en Nishimura, Hiroyuki
    • en Machino, Yuka
    • en Kokubo, Yasumasa
    • en Kosugi, Masafumi
    • en Okada, Ryuichirou
    • en Yukitake, Motohiro
    • en Tachibana, Hisao
    • en Kuroda, Yasuo
    • en Kuzuhara, Shigeki
    • en Sasaki, Hidenao
アクセス権 open access
権利情報
  • en The original publication is available at http://www.springerlink.com/
主題
  • Other en Spastic paraplegia
  • Other en Spastin
  • Other en SPAST
  • Other en Hereditary spastic paraplegia
  • NDC 467
内容注記
  • Abstract en 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.
出版者 en Springer
日付
    Issued2006-08
言語
  • eng
資源タイプ journal article
出版タイプ AM
資源識別子 HDL http://hdl.handle.net/2115/14448
関連
  • URI http://www.springerlink.com/
  • isVersionOf DOI https://doi.org/10.1007/s10038-006-0412-7
  • PMID 16788734
収録誌情報
    • PISSN 1434-5161
    • EISSN 1435-232X
      • en Journal of Human Genetics
      • 巻51 号8 開始ページ711 終了ページ715
ファイル
    • fulltext yabe_jhg.pdf
    • 96.84 KB (application/pdf)
      • Issued2006-08
コンテンツ更新日時 2023-07-26