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Title
  • en Four mutations of the spastin gene in Japanese families with spastic paraplegia
Creator
    • 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
Accessrights open access
Rights
  • en The original publication is available at http://www.springerlink.com/
Subject
  • Other en Spastic paraplegia
  • Other en Spastin
  • Other en SPAST
  • Other en Hereditary spastic paraplegia
  • NDC 467
Description
  • 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.
Publisher en Springer
Date
    Issued2006-08
Language
  • eng
Resource Type journal article
Version Type AM
Identifier HDL http://hdl.handle.net/2115/14448
Relation
  • URI http://www.springerlink.com/
  • isVersionOf DOI https://doi.org/10.1007/s10038-006-0412-7
  • PMID 16788734
Journal
    • PISSN 1434-5161
    • EISSN 1435-232X
      • en Journal of Human Genetics
      • Volume Number51 Issue Number8 Page Start711 Page End715
File
    • fulltext yabe_jhg.pdf
    • 96.84 KB (application/pdf)
      • Issued2006-08
Oaidate 2023-07-26