title: Complex phenotype in an Italian family with a novel mutation in SPG3A.
abstract: Mutations in the SPG3A gene represent a significant cause of autosomal dominant hereditary spastic paraplegia with early onset and pure phenotype. We describe an Italian family manifesting a complex phenotype, characterized by cerebellar involvement in the proband and amyotrophic lateral sclerosis-like syndrome in her father, in association with a new mutation in SPG3A. Our findings further widen the notion of clinical heterogeneity in SPG3A mutations.
authors.affiliation: Department of Neurological Sciences, Federico II University, Via S. Pansini 5, 80131, Naples, Italy. marulvia@hotmail.com
authors.forename: Maria Fulvia
authors.initials: MF
authors.lastname: de Leva
authors.forename: Alessandro
authors.initials: A
authors.lastname: Filla
authors.forename: Chiara
authors.initials: C
authors.lastname: Criscuolo
authors.forename: Alessandra
authors.initials: A
authors.lastname: Tessa
authors.forename: Sabina
authors.initials: S
authors.lastname: Pappatà
authors.forename: Mario
authors.initials: M
authors.lastname: Quarantelli
authors.forename: Leonilda
authors.initials: L
authors.lastname: Bilo
authors.forename: Silvio
authors.initials: S
authors.lastname: Peluso
authors.forename: Antonella
authors.initials: A
authors.lastname: Antenora
authors.forename: Dario
authors.initials: D
authors.lastname: Longo
authors.forename: Filippo M
authors.initials: FM
authors.lastname: Santorelli
authors.forename: Giuseppe
authors.initials: G
authors.lastname: De Michele
mesh_terms: D000328:Adult; D000368:Aged; D000690:Amyotrophic Lateral Sclerosis / Q000235:genetics / Q000503:physiopathology; D001284:Atrophy / Q000000981:diagnostic imaging / Q000235:genetics / Q000473:pathology; D002526:Cerebellar Diseases / Q000235:genetics / Q000473:pathology / Q000503:physiopathology; D002531:Cerebellum / Q000000981:diagnostic imaging / Q000473:pathology / Q000503:physiopathology; D004252:DNA Mutational Analysis; D018450:Disease Progression; D005260:Female; D005625:Frontal Lobe / Q000000981:diagnostic imaging / Q000473:pathology / Q000503:physiopathology; D020558:GTP Phosphohydrolases / Q000235:genetics*; D019204:GTP-Binding Proteins; D020022:Genetic Predisposition to Disease / Q000235:genetics*; D005820:Genetic Testing; D005838:Genotype; D006801:Humans; D007558:Italy; D008279:Magnetic Resonance Imaging; D008297:Male; D008565:Membrane Proteins; D008969:Molecular Sequence Data; D009154:Mutation / Q000235:genetics*; D010641:Phenotype; D049268:Positron-Emission Tomography; D017386:Sequence Homology, Amino Acid; D015419:Spastic Paraplegia, Hereditary / Q000235:genetics* / Q000378:metabolism / Q000503:physiopathology*
chemical_list: D008565:Membrane Proteins; C440006:ATL1 protein, human; D020558:GTP Phosphohydrolases; D019204:GTP-Binding Proteins