Complex phenotype in an Italian family with a novel mutation in SPG3A.
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.
de Leva
Maria Fulvia
MF
Department of Neurological Sciences, Federico II University, Via S. Pansini 5, 80131, Naples, Italy. marulvia@hotmail.com
Filla
Alessandro
A
Criscuolo
Chiara
C
Tessa
Alessandra
A
Pappatà
Sabina
S
Quarantelli
Mario
M
Bilo
Leonilda
L
Peluso
Silvio
S
Antenora
Antonella
A
Longo
Dario
D
Santorelli
Filippo M
FM
De Michele
Giuseppe
G
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*
D008565:Membrane Proteins; C440006:ATL1 protein, human; D020558:GTP Phosphohydrolases; D019204:GTP-Binding Proteins