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Article

Hereditary spastic paraplegia and axonal motor neuropathy caused by a novel SPG3A de novo mutation.

Brain & development - 1 Aug 2010

Fusco Carlo, Frattini Daniele, Farnetti Enrico, Nicoli Davide, Casali Bruno, Fiorentino Francesco, Nuccitelli Andrea, Giustina Elvio Della

Abstract excerpt

Mutations in the SPG3A gene (atlastin protein) cause approximately 10% of autosomal-dominant hereditary spastic paraplegia. Most patients with an SPG3A mutation present with a pure phenotype and early-onset disease, although complicated forms with peripheral neuropathy are also reported. We report a new heterozygous S398F mutation in exon 12 of the SPG3A gene causing a very early-onset spastic paraplegia in...

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PMID: 19735987
DOI: 10.1016/j.braindev.2009.08.003

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PubMed metadata and Literature Corpus relationships. Corpus snapshot updated 7 Sept 2026. Manifest publication-graph-cohort-2026-09-08.1.

Source receipt: pubmed, retrieved 7 Sept 2026.

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