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

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.

Data di pubblicazione: 2004
Titolo: Evidence of kinesin heavy chain (KIF5A) involvement in pure hereditary spastic paraplegia
Autori: FICHERA M; LO GIUDICE M; FALCO M; STURNIO M; AMATA S; CALABRESE O; BIGONI S; CALZOLARI E; NERI M
Rivista: NEUROLOGY
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.
Handle: http://hdl.handle.net/11392/1733911
Appare nelle tipologie:03.1 Articolo su rivista

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