title: SOD1 G93D mutation presenting as paucisymptomatic amyotrophic lateral sclerosis.
abstract: We describe a patient with a familial form of amyotrophic lateral sclerosis (ALS) in which a heterozygous G > A exchange at position 1087 in the SOD1 gene was detected. This mutation results in an amino acid substitution of aspartate for glycine at position 93 (G93D). The patient had a five-year history of fasciculations in all four limbs, with no clear evidence of muscular atrophy or weakness at last follow-up. However, electrophysiological examination revealed lower and upper motor neuron involvement. His mother and a cousin had died of ALS after prolonged disease. This report shows that G93D may cause a form of ALS with slow progression, long-lasting paucisymptomatic phase and both lower and upper motor neuron involvement.
authors.affiliation: Istituto di Neurologia, Università Cattolica del Sacro Cuore Rome, Italy.
authors.forename: Marco
authors.initials: M
authors.lastname: Luigetti
authors.forename: Francesca
authors.initials: F
authors.lastname: Madia
authors.forename: Amelia
authors.initials: A
authors.lastname: Conte
authors.forename: Giuseppe
authors.initials: G
authors.lastname: Marangi
authors.forename: Marcella
authors.initials: M
authors.lastname: Zollino
authors.forename: Alessandra
authors.initials: A
authors.lastname: Del Grande
authors.forename: Michele
authors.initials: M
authors.lastname: Dileone
authors.forename: Pietro Attilio
authors.initials: PA
authors.lastname: Tonali
authors.forename: Mario
authors.initials: M
authors.lastname: Sabatelli
mesh_terms: D000368:Aged; D000690:Amyotrophic Lateral Sclerosis / Q000175:diagnosis / Q000235:genetics / Q000503:physiopathology; D001483:Base Sequence; D004252:DNA Mutational Analysis; D004594:Electrophysiology; D005260:Female; D006801:Humans; D008297:Male; D008875:Middle Aged; D010375:Pedigree; D017354:Point Mutation; D013482:Superoxide Dismutase / Q000235:genetics*; D000072105:Superoxide Dismutase-1
chemical_list: C000606290:SOD1 protein, human; D013482:Superoxide Dismutase; D000072105:Superoxide Dismutase-1