| 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 |
| Spastin |
| SPAST |
| 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 http://www.springerlink.com/ |
| Relation: | http://www.springerlink.com/ |
| Type: | article (author version) |
| URI: | http://hdl.handle.net/2115/14448 |
| 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)
|
