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

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

Research output: Contribution to journalArticlepeer-review

Abstract

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.

Original languageEnglish
Pages (from-to)665-668
Number of pages4
JournalNeurological Sciences
Volume32
Issue number4
DOIs
Publication statusPublished - Aug 2011

Keywords

  • Hereditary spastic paraplegia
  • KIF5A
  • Peripheral neuropathy
  • SPG10

ASJC Scopus subject areas

  • Clinical Neurology
  • Psychiatry and Mental health
  • Dermatology

Fingerprint Dive into the research topics of 'A novel mutation in KIF5A gene causing hereditary spastic paraplegia with axonal neuropathy'. Together they form a unique fingerprint.

Cite this