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

作者：Musumeci Olimpia^*; Bassi Maria Teresa; Mazzeo Anna; Grandis Marina; Crimella Claudia; Martinuzzi Andrea; Toscano Antonio

来源：Neurological Sciences, 2011, 32(4): 665-668.

DOI：10.1007/s10072-010-0445-8

• Hereditary spastic paraplegia
• KIF5A
• SPG10
• Peripheral neuropathy

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 spastic paraparesis and diffuse paresthesias where neurophysiological and nerve biopsy morphological studies revealed an axonal neuropathy. Molecular genetic analysis identified a new missense mutation (c.608C > G) of KIF5A gene resulting in a serine to cysteine substitution, S203C, located in a highly conserved domain of the protein. This pedigree confirms the occurrence of an axonal peripheral neuropathy in SPG10.

• 出版日期2011-8