Early onset Parkinsonism associated with an intronic SOD1 mutation.
We report on a patient belonging to a large family with autosomal-dominant amyotrophic lateral sclerosis, who developed asymmetrical akineto-rigid symptoms at 33 years of age. He had no signs of lower motor neuron disease after four years of follow-up. All seven ALS patients from this family harboured a mutation located in the fourth intron of the SOD1 gene. The proband also harboured the same mutation, associated with a 40% decrease in SOD1 erythrocyte activity. This case report suggests that SOD1 mutations might be associated with marked phenotypic variability (ALS or early onset Parkinsonism in this family).
Department of Neurology, ALS Centre, CHU de Limoges, France.
Imen
I
Kacem
Benoît
B
Funalot
Frédéric
F
Torny
Géraldine
G
Lautrette
Peter M
PM
Andersen
Philippe
P
Couratier
D000328:Adult; D017668:Age of Onset; D018450:Disease Progression; D005500:Follow-Up Studies; D006801:Humans; D007438:Introns; D008297:Male; D009154:Mutation / Q000235:genetics*; D020734:Parkinsonian Disorders / Q000175:diagnosis / Q000235:genetics* / Q000628:therapy; D013482:Superoxide Dismutase / Q000235:genetics* / Q000378:metabolism; D000072105:Superoxide Dismutase-1
C000606290:SOD1 protein, human; D013482:Superoxide Dismutase; D000072105:Superoxide Dismutase-1