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

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

Research output: Contribution to journalArticle

Abstract

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 association with motor axonal neuropathy in a 4-year-old girl resembling diplegic cerebral palsy.

Original languageEnglish
Pages (from-to)592-594
Number of pages3
JournalBrain and Development
Volume32
Issue number7
DOIs
Publication statusPublished - Aug 2010

Keywords

  • Axonal neuropathy
  • Hereditary spastic paraplegia
  • SPG3A

ASJC Scopus subject areas

  • Clinical Neurology
  • Developmental Neuroscience
  • Pediatrics, Perinatology, and Child Health
  • Medicine(all)

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