A novel mutation in KIF5A gene causing hereditary spastic paraplegia with axonal neuropathy
- نوع فایل : کتاب
- زبان : انگلیسی
- مؤلف : Olimpia Musumeci • Maria Teresa Bassi • Anna Mazzeo • Marina Grandis • Claudia Crimella • Andrea Martinuzzi • Antonio Toscano
- چاپ و سال / کشور: 2010
Description
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.
Neurol Sci (2011) 32:665–668 DOI 10.1007/s10072-010-0445-8 Received: 18 February 2010 / Accepted: 19 October 2010 / Published online: 24 November 2010
