A novel KIF5A mutation in an Italian family marked by spastic paraparesis and congenital deafness.

Abstract

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… (More)
DOI: 10.1016/j.jns.2014.05.063

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