title: Novel SPG3A and SPG4 mutations in two patients with Silver syndrome.
abstract: Hereditary spastic paraplegia encompasses a group of disorders that are characterized by progressive lower extremity weakness and spasticity. We describe two patients with Silver phenotype including one with a novel SPG4 (Spastin) mutation and a second with a known SPG 4 mutation (previously unassociated with this phenotype) and a concomitant previously unreported mutation in SPG3A (Atlastin). These cases suggest that Silver syndrome may be associated with a wider variety of genotypes than previously described.
authors.affiliation: Department of Neurology, Massachusetts General Hospital, Boston, MA 02114, USA. johnnysalameh@hotmail.com
authors.forename: Johnny S
authors.initials: JS
authors.lastname: Salameh
authors.forename: Anant M
authors.initials: AM
authors.lastname: Shenoy
authors.forename: William S
authors.initials: WS
authors.lastname: David
mesh_terms: D000251:Adenosine Triphosphatases / Q000235:genetics*; D000328:Adult; D000870:Anterior Horn Cells / Q000378:metabolism / Q000473:pathology; D004252:DNA Mutational Analysis; D003937:Diagnosis, Differential; D018450:Disease Progression; D005260:Female; D020558:GTP Phosphohydrolases / Q000235:genetics*; D019204:GTP-Binding Proteins; D020022:Genetic Predisposition to Disease / Q000235:genetics*; D005838:Genotype; D006801:Humans; D008565:Membrane Proteins; D008875:Middle Aged; D016472:Motor Neuron Disease / Q000175:diagnosis / Q000235:genetics / Q000503:physiopathology; D018908:Muscle Weakness / Q000235:genetics / Q000473:pathology / Q000503:physiopathology; D018482:Muscle, Skeletal / Q000378:metabolism / Q000473:pathology / Q000503:physiopathology; D009154:Mutation / Q000235:genetics*; D015419:Spastic Paraplegia, Hereditary / Q000175:diagnosis / Q000235:genetics* / Q000503:physiopathology*; D000074181:Spastin; D013577:Syndrome
chemical_list: D008565:Membrane Proteins; C440006:ATL1 protein, human; D000251:Adenosine Triphosphatases; D020558:GTP Phosphohydrolases; D019204:GTP-Binding Proteins; D000074181:Spastin; C400283:SPAST protein, human