title: Hereditary spastic paraplegia and axonal motor neuropathy caused by a novel SPG3A de novo mutation.
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.
authors.affiliation: Child Neurology Unit, Arcispedale Santa Maria Nuova, Reggio Emilia, Italy. fusco.carlo@asmn.re.it
authors.forename: Carlo
authors.initials: C
authors.lastname: Fusco
authors.forename: Daniele
authors.initials: D
authors.lastname: Frattini
authors.forename: Enrico
authors.initials: E
authors.lastname: Farnetti
authors.forename: Davide
authors.initials: D
authors.lastname: Nicoli
authors.forename: Bruno
authors.initials: B
authors.lastname: Casali
authors.forename: Francesco
authors.initials: F
authors.lastname: Fiorentino
authors.forename: Andrea
authors.initials: A
authors.lastname: Nuccitelli
authors.forename: Elvio Della
authors.initials: ED
authors.lastname: Giustina
mesh_terms: D002675:Child, Preschool; D005091:Exons; D005260:Female; D020558:GTP Phosphohydrolases / Q000235:genetics*; D019204:GTP-Binding Proteins; D006801:Humans; D008565:Membrane Proteins; D009046:Motor Neurons / Q000502:physiology; D009154:Mutation; D009431:Neural Conduction; D010523:Peripheral Nervous System Diseases / Q000235:genetics*; D010641:Phenotype; D015419:Spastic Paraplegia, Hereditary / Q000235:genetics* / Q000503:physiopathology
chemical_list: D008565:Membrane Proteins; C440006:ATL1 protein, human; D020558:GTP Phosphohydrolases; D019204:GTP-Binding Proteins