RGD Reference Report - Evidence of kinesin heavy chain (KIF5A) involvement in pure hereditary spastic paraplegia. - Rat Genome Database
Submit Data |  Help |  Video Tutorials |  News |  Publications |  FTP Download |  REST API |  Citing RGD |  Contact   

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

Authors: Fichera, M  Lo Giudice, M  Falco, M  Sturnio, M  Amata, S  Calabrese, O  Bigoni, S  Calzolari, E  Neri, M 
Citation: Fichera M, etal., Neurology. 2004 Sep 28;63(6):1108-10.
RGD ID: 12859091
Pubmed: (View Article at PubMed) PMID:15452312

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.

Annotation

Disease Annotations    

Phenotype Annotations    

Human Phenotype
Objects Annotated

Genes (Rattus norvegicus)
Kif5a  (kinesin family member 5A)

Genes (Mus musculus)
Kif5a  (kinesin family member 5A)

Genes (Homo sapiens)
KIF5A  (kinesin family member 5A)


Additional Information