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A novelKIF5A/SPG10mutation in spastic paraplegia associated with axonal neuropathy

✍ 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

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## 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__.

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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