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Neurology. 2004 Sep 28;63(6):1108-10.

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

Author information

  • 1Genetic Diagnostic Laboratory, IRCCS Oasi M. SS. Troina, Italy. mfichera@oasi.en.it

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.

PMID:
15452312
[PubMed - indexed for MEDLINE]
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