title: Very early onset and severe complicated phenotype caused by a new spastic paraplegia 3A gene mutation.
abstract: Spastic paraplegia 3A is the second most common form of hereditary autosomal dominant spastic paraplegia. This form is mainly associated with an early age of onset and pure phenotype, although recently complicated forms were reported. We describe a patient carrying a new C>T P344S>CT mutation in exon 10 of the spastic paraplegia 3A gene with unusual, complicated, and extremely severe phenotype. At the last neurologic examination performed at 17 years of life, the patient disclosed spastic tetraparesis, sensorimotor axonal neuropathy, cognitive and cranial nerve impairment, mild pes cavus, and distal amyotrophy.
authors.affiliation: Pediatric Neurology Unit, Arcispedale Santa Maria Nuova, Viale Risorgimento 80, Reggio Emilia, Italy. usco.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: Elvio
authors.initials: E
authors.lastname: Della Giustina
mesh_terms: D000293:Adolescent; D004594:Electrophysiology / Q000379:methods; D005260:Female; D019204:GTP-Binding Proteins / Q000235:genetics*; D006801:Humans; D008565:Membrane Proteins / Q000235:genetics*; D009154:Mutation / Q000235:genetics*; D009485:Neuroradiography / Q000379:methods; D010641:Phenotype; D015419:Spastic Paraplegia, Hereditary / Q000175:diagnosis / Q000235:genetics* / Q000503:physiopathology*
chemical_list: D008565:Membrane Proteins; C440006:ATL1 protein, human; D019204:GTP-Binding Proteins