Evidence of kinesin heavy chain ( KIF5A ) involvement in pure hereditary spastic paraplegia
- 28 September 2004
- journal article
- review article
- Published by Wolters Kluwer Health in Neurology
- Vol. 63 (6), 1108-1110
- https://doi.org/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.Keywords
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