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Updated: Aug 21, 2026

Identification of Kinesin-1 Cargos Using Fluorescence Microscopy
Published on: February 14, 2016
Evidence of kinesin heavy chain (KIF5A) involvement in pure hereditary spastic paraplegia
M Fichera1, M Lo Giudice, M Falco
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.
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