Four mutations of the spastin gene in Japanese families with spastic paraplegia |
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Authors: | Rehana Basri Ichiro Yabe Hiroyuki Soma Asako Takei Hiroyuki Nishimura Yuka Machino Yasumasa Kokubo Masafumi Kosugi Ryuichirou Okada Motohiro Yukitake Hisao Tachibana Yasuo Kuroda Shigeki Kuzuhara Hidenao Sasaki |
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Affiliation: | (1) Department of Neurology, Graduate School of Medicine, Hokkaido University, Kita-ku, Sapporo 060-8368, Japan;(2) Hokuyukai Neurology Hospital, Sapporo, Japan;(3) Department of General Internal Medicine, Hyogo College of Medicine, Nishinomiya, Japan;(4) Department of Internal Medicine, Division of Neurology and Stroke Care Unit, Hyogo College of Medicine, Nishinomiya, Japan;(5) Department of Neurology, Graduate School of Medicine, Mie University, Tsu, Japan;(6) Department of Neurology, Graduate School of Medicine, Saga University, Saga, Japan |
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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.Rehana Basri, Ichiro Yabe and Hiroyuki Soma have contributed equally to this work. |
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Keywords: | Spastic paraplegia Spastin SPAST Hereditary spastic paraplegia |
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