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NEUROLOGY 2004;63:1108-1110
© 2004 American Academy of Neurology
Brief Communications

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

M. Fichera, PhD*, M. Lo Giudice, BS*, M. Falco, BS, M. Sturnio, BS, S. Amata, BS, O. Calabrese, MD, S. Bigoni, MD, E. Calzolari, MD and M. Neri, MD

From Genetic Diagnostic Laboratory (Drs. Fichera, Lo Giudice, Falco, Sturnio, Amata), IRCCS Oasi M. SS. Troina, Italy; Department of Experimental Medicine and Diagnostics, Medical Genetics Service (Drs. Calabrese, Bigoni, Calzolari, Neri), University of Ferrara, Ferrara, Italy.

Address correspondence and reprint requests to Dr. Marco Fichera, Laboratorio di Diagnosi Genetica, IRCCS Oasi Maria SS., via Conte Ruggero 73, 94018 Troina (EN) Italy; e-mail: mfichera{at}oasi.en.it

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.

Received March 4, 2004. Accepted in final form May 13, 2004.

Additional material related to this article can be found on the Neurology Web site. Go to www.neurology.org and scroll down the Table of Contents for the September 28 issue to find the title link for this article.

*These authors contributed equally to this work.




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