Hereditary spastic paraplegia and axonal motor neuropathy caused by a novel SPG3A de novo mutation.
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.
Fusco
Carlo
C
Child Neurology Unit, Arcispedale Santa Maria Nuova, Reggio Emilia, Italy. fusco.carlo@asmn.re.it
Frattini
Daniele
D
Farnetti
Enrico
E
Nicoli
Davide
D
Casali
Bruno
B
Fiorentino
Francesco
F
Nuccitelli
Andrea
A
Giustina
Elvio Della
ED
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
D008565:Membrane Proteins; C440006:ATL1 protein, human; D020558:GTP Phosphohydrolases; D019204:GTP-Binding Proteins