Further evidence that D90A-SOD1 mutation is recessively inherited in ALS patients in Italy.
Mutations in the Cu/Zn superoxide dismutase 1 (SOD1) gene have been reported to cause adult-onset autosomal dominant amyotrophic lateral sclerosis (FALS). In sporadic cases (SALS), de novo mutations in the SOD1 gene have occasionally been observed. All the SOD1 mutations are autosomal dominantly inherited with the exception of D90A. To date, in Italy, only two sporadic ALS cases carrying the D90A mutation have been reported in a homozygous state. We investigated for the presence of this mutation in 169 unrelated ALS patients from southern Italy. The genetic analysis revealed three ALS patients (1.8%) with mild phenotype carrying the homozygous D90A mutation.
Luisa Conforti
Francesca
F
Institute of Neurological Sciences, National Research Council, Mangone, Cosenza, Italy. fl.conforti@isn.cnr.it
Sprovieri
Teresa
T
Mazzei
Rosalucia
R
Patitucci
Alessandra
A
Ungaro
Carmine
C
Zoccolella
Stefano
S
Magariello
Angela
A
Bella
Vincenzo La
VL
Tessitore
Alessandro
A
Tedeschi
Gioacchino
G
Simone
Isa Laura
IL
Majorana
Giovanni
G
Valentino
Paola
P
Citrigno
Luigi
L
Gabriele
Annalia
A
Bono
Francesco
F
Monsurrò
Maria Rosaria
MR
Muglia
Maria
M
Quattrone
Aldo
A
D000328:Adult; D000368:Aged; D000690:Amyotrophic Lateral Sclerosis / Q000175:diagnosis / Q000235:genetics*; D004252:DNA Mutational Analysis; D005260:Female; D005808:Genes, Recessive; D020022:Genetic Predisposition to Disease; D005838:Genotype; D006801:Humans; D007558:Italy; D008297:Male; D008875:Middle Aged; D009154:Mutation; D013482:Superoxide Dismutase / Q000235:genetics*; D000072105:Superoxide Dismutase-1
C000606290:SOD1 protein, human; D013482:Superoxide Dismutase; D000072105:Superoxide Dismutase-1