## Abstract We describe a Japanese family in which inheritance of a novel mutation p.A100T in __SPG6__ resulted in an autosomal dominant form of hereditary spastic paraplegia (ADHSP). Clinical investigation showed a pure form of HSP. Our study demonstrates further allelic heterogeneity of __SPG6__.
Four mutations of thespastingene in Japanese families with spastic paraplegia
โ Scribed by 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
- Publisher
- Nature Publishing Group
- Year
- 2006
- Tongue
- English
- Weight
- 135 KB
- Volume
- 51
- Category
- Article
- ISSN
- 1435-232X
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