Evidence of kinesin heavy chain (KIF5A) involvement in pure hereditary spastic paraplegia

Neurology. 2004 Sep 28;63(6):1108-10. doi: 10.1212/01.wnl.0000138731.60693.d2.

Abstract

Hereditary spastic paraplegias (HSPs) are characterized by progressive lower extremity spasticity due to an axonal degeneration of motor and sensory neurons. We report a four-generation pedigree segregating an autosomal dominant phenotype for HSP and showing a linkage to the SPG10 locus, coding for Kinesin family member 5A. Subsequent to a denaturing high performance liquid chromatography (dHPLC) mutation screening we found a new missense mutation 838C>T (R280C) at an invariant arginine residue in a region involved in the microtubule binding activity.

Publication types

  • Research Support, Non-U.S. Gov't
  • Review

MeSH terms

  • Amino Acid Substitution
  • Binding Sites
  • Chromatography, High Pressure Liquid
  • Chromosomes, Human, Pair 12 / genetics
  • Female
  • Genes, Dominant*
  • Haplotypes / genetics
  • Humans
  • Kinesins
  • Lod Score
  • Male
  • Microtubule-Associated Proteins / chemistry
  • Microtubule-Associated Proteins / genetics
  • Microtubule-Associated Proteins / physiology*
  • Microtubules / metabolism
  • Mutation, Missense*
  • Pedigree
  • Point Mutation*
  • Polymerase Chain Reaction
  • Protein Interaction Mapping
  • Spastic Paraplegia, Hereditary / genetics*

Substances

  • KIF5A protein, human
  • Microtubule-Associated Proteins
  • Kinesins