A novelKIF5A/SPG10mutation in spastic paraplegia associated with axonal neuropathy
β Scribed by A. Tessa; G. Silvestri; M. F. de Leva; A. Modoni; P. S. Denora; M. Masciullo; M. T. Dotti; C. Casali; M. A. B. Melone; A. Federico; A. Filla; F. M. Santorelli
- Publisher
- Springer
- Year
- 2008
- Tongue
- English
- Weight
- 283 KB
- Volume
- 255
- Category
- Article
- ISSN
- 0340-5354
No coin nor oath required. For personal study only.
π SIMILAR VOLUMES
## 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__.
Mutations in the SPG7 gene encoding a mitochondrial protein termed paraplegin, are responsible for a recessive form of hereditary spastic paraparesis. Only few studies have so far been performed in large groups of hereditary spastic paraplegia (HSP) patients to determine the frequency of SPG7 mutati