RGD Reference Report - A novel KIF5A mutation in an Italian family marked by spastic paraparesis and congenital deafness. - Rat Genome Database
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A novel KIF5A mutation in an Italian family marked by spastic paraparesis and congenital deafness.

Authors: Muglia, M  Citrigno, L  D'Errico, E  Magariello, A  Distaso, E  Gasparro, A A  Scarafino, A  Patitucci, A  Conforti, F L  Mazzei, R  Cortese, R  Tortelli, R  Simone, I L 
Citation: Muglia M, etal., J Neurol Sci. 2014 Aug 15;343(1-2):218-20. doi: 10.1016/j.jns.2014.05.063. Epub 2014 Jun 5.
RGD ID: 12859090
Pubmed: (View Article at PubMed) PMID:24939576
DOI: Full-text: DOI:10.1016/j.jns.2014.05.063

Hereditary spastic paraplegia (HSP) includes a group of diseases characterized by progressive spastic weakness of the lower limbs (pure forms) with possible additional signs (complicated forms). The SPG10 form is due to alteration in the kinesin1A gene (KIF5A) that encodes the neuronal kinesin heavy chain, a protein required for the anterograde axonal transport. We performed clinical, neurophysiological and molecular studies in two siblings affected by AD-HSP complicated by deafness. The screening of the KIF5A gene revealed the novel mutation p.Leu259Gln in two affected siblings and in their father with a pure form of HSP.

Annotation

Disease Annotations    

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