SOD1 G93D mutation presenting as paucisymptomatic amyotrophic lateral sclerosis.
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.
Luigetti
Marco
M
Istituto di Neurologia, Università Cattolica del Sacro Cuore Rome, Italy.
Madia
Francesca
F
Conte
Amelia
A
Marangi
Giuseppe
G
Zollino
Marcella
M
Del Grande
Alessandra
A
Dileone
Michele
M
Tonali
Pietro Attilio
PA
Sabatelli
Mario
M
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
C000606290:SOD1 protein, human; D013482:Superoxide Dismutase; D000072105:Superoxide Dismutase-1