title: 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 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.
authors.affiliation: Institute of Neurological Sciences, National Research Council, Mangone, Cosenza, Italy. Electronic address: m.muglia@isn.cnr.it.
authors.forename: M
authors.initials: M
authors.lastname: Muglia
authors.affiliation: Institute of Neurological Sciences, National Research Council, Mangone, Cosenza, Italy.
authors.forename: L
authors.initials: L
authors.lastname: Citrigno
authors.affiliation: Department of Basic Medical Sciences, Neurosciences and Sense Organs, University of Bari, Italy.
authors.forename: E
authors.initials: E
authors.lastname: D'Errico
authors.affiliation: Institute of Neurological Sciences, National Research Council, Mangone, Cosenza, Italy.
authors.forename: A
authors.initials: A
authors.lastname: Magariello
authors.affiliation: Department of Basic Medical Sciences, Neurosciences and Sense Organs, University of Bari, Italy.
authors.forename: E
authors.initials: E
authors.lastname: Distaso
authors.affiliation: Department of Basic Medical Sciences, Neurosciences and Sense Organs, University of Bari, Italy.
authors.forename: A A
authors.initials: AA
authors.lastname: Gasparro
authors.affiliation: Department of Basic Medical Sciences, Neurosciences and Sense Organs, University of Bari, Italy.
authors.forename: A
authors.initials: A
authors.lastname: Scarafino
authors.affiliation: Institute of Neurological Sciences, National Research Council, Mangone, Cosenza, Italy.
authors.forename: A
authors.initials: A
authors.lastname: Patitucci
authors.affiliation: Institute of Neurological Sciences, National Research Council, Mangone, Cosenza, Italy.
authors.forename: F L
authors.initials: FL
authors.lastname: Conforti
authors.affiliation: Institute of Neurological Sciences, National Research Council, Mangone, Cosenza, Italy.
authors.forename: R
authors.initials: R
authors.lastname: Mazzei
authors.affiliation: Department of Basic Medical Sciences, Neurosciences and Sense Organs, University of Bari, Italy.
authors.forename: R
authors.initials: R
authors.lastname: Cortese
authors.affiliation: Department of Basic Medical Sciences, Neurosciences and Sense Organs, University of Bari, Italy.
authors.forename: R
authors.initials: R
authors.lastname: Tortelli
authors.affiliation: Department of Basic Medical Sciences, Neurosciences and Sense Organs, University of Bari, Italy.
authors.forename: I L
authors.initials: IL
authors.lastname: Simone
mesh_terms: D000328:Adult; D004252:DNA Mutational Analysis; D005192:Family Health; D005260:Female; D006319:Hearing Loss, Sensorineural / Q000150:complications / Q000235:genetics*; D006801:Humans; D007558:Italy; D016547:Kinesins / Q000235:genetics*; D008297:Male; D009154:Mutation / Q000235:genetics*; D009482:Neurophysiology; D020336:Paraparesis, Spastic / Q000150:complications / Q000235:genetics*
chemical_list: C500506:KIF5A protein, human; D016547:Kinesins
keywords: Deafness; Hereditary spastic paraplegia; Intra-familial variability; KIF5A gene; Kinesin heavy chain protein; SPG10