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Article

A novel mutation in KIF5A gene causing hereditary spastic paraplegia with axonal neuropathy.

Neurological sciences : official journal of the Italian Neurological Society and of the Italian Society of Clinical Neurophysiology - 1 Aug 2011

Musumeci Olimpia, Bassi Maria Teresa, Mazzeo Anna, Grandis Marina, Crimella Claudia, Martinuzzi Andrea, Toscano Antonio

Abstract excerpt

Hereditary spastic paraplegias (HSPs) include a group of neurodegenerative diseases, and so far 46 SPG loci have been mapped and 17 genes isolated. Among the autosomal dominant HSPs (AD-HSPs), SPG10 is a rare form due to mutations in KIF5A gene (locus 12q13.3). We describe the clinical, neurophysiological, morphological and genetic study of an Italian family with AD-HSP. The proband presented with an adult onset...

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PMID: 21107874
DOI: 10.1007/s10072-010-0445-8

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