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Article

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

Journal of the neurological sciences - 15 Aug 2014

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

Abstract excerpt

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 he...

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PMID: 24939576
DOI: 10.1016/j.jns.2014.05.063

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PubMed metadata and Literature Corpus relationships. Corpus snapshot updated 4 Sept 2026. Prepared record publication-24939576-2026-09-04.2. Manifest publication-graph-cohort-2026-09-04.2.

Source receipt: PubMed via Helena Literature Corpus, retrieved 4 Sept 2026.

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