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

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

    Fichera M, Lo Giudice M, Falco M, Sturnio M, Amata S, Calabrese O, Bigoni S, Calzolari E, Neri M.

    Source

    Genetic 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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