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

18 Citations (Scopus)

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

Fingerprint

Hereditary Spastic Paraplegia
Mutation
Paraplegia
Peripheral Nervous System Diseases
Cerebral Palsy
Exons
Phenotype
Genes
Proteins

Keywords

  • Axonal neuropathy
  • Hereditary spastic paraplegia
  • SPG3A

ASJC Scopus subject areas

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

Cite this

Hereditary spastic paraplegia and axonal motor neuropathy caused by a novel SPG3A de novo mutation. / Fusco, Carlo; Frattini, Daniele; Farnetti, Enrico; Nicoli, Davide; Casali, Bruno; Fiorentino, Francesco; Nuccitelli, Andrea; Giustina, Elvio Della.

In: Brain and Development, Vol. 32, No. 7, 08.2010, p. 592-594.

Research output: Contribution to journalArticle

Fusco, Carlo ; Frattini, Daniele ; Farnetti, Enrico ; Nicoli, Davide ; Casali, Bruno ; Fiorentino, Francesco ; Nuccitelli, Andrea ; Giustina, Elvio Della. / Hereditary spastic paraplegia and axonal motor neuropathy caused by a novel SPG3A de novo mutation. In: Brain and Development. 2010 ; Vol. 32, No. 7. pp. 592-594.
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