SOD1 missense mutation in an Italian family with ALS.
We have discovered a new Italian pedigree with autosomal-dominant ALS. The pedigree, at present, comprises 75 members distributed in five generations. ALS was diagnosed in eight patients. The mean +/- SD age of onset of the disease was 46.8 +/- 13.5 years, with a range of 29 to 63 years. The mean +/- SD duration of the disease was 11.6 +/- 1.7 months. Molecular genetic studies showed a missense mutation (Gly-->Ser, codon 41) in exon 2 of the Cu/Zn superoxide dismutase gene (SOD1) on chromosome 21 in the available affected member and in 45% of the at-risk subjects of the pedigree. This study confirms the presence of SOD1 point mutations in families with autosomal-dominant ALS and suggests that additional genetic or environmental factors may be involved in the full expression of the disease.
Rainero
I
I
Department of Neurology, University of Turin, Italy.
Pinessi
L
L
Tsuda
T
T
Vignocchi
M G
MG
Vaula
G
G
Calvi
L
L
Cerrato
P
P
Rossi
B
B
Bergamini
L
L
McLachlan
D R
DR
D000328:Adult; D000690:Amyotrophic Lateral Sclerosis / Q000201:enzymology* / Q000235:genetics*; D001483:Base Sequence; D002891:Chromosomes, Human, Pair 21; D004247:DNA / Q000097:blood; D017931:DNA Primers; D005190:Family; D005260:Female; D005998:Glycine; D006801:Humans; D007558:Italy; D008297:Male; D008875:Middle Aged; D008969:Molecular Sequence Data; D010375:Pedigree; D017354:Point Mutation; D016133:Polymerase Chain Reaction; D012694:Serine; D013482:Superoxide Dismutase / Q000235:genetics*
D017931:DNA Primers; D012694:Serine; D004247:DNA; D013482:Superoxide Dismutase; D005998:Glycine