D90A-SOD1 mutation in ALS: The first report of heterozygous Italian patients and unusual findings.
Among the 140 Cu/Zn superoxide dismutase-1 (SOD1) gene mutations associated with ALS, only D90A, the most prevalent mutation in Europe, has been clearly shown to cause recessive and dominant ALS. Here we first describe two, apparently sporadic, Italian ALS patients heterozygous for the D90A mutation. One patient experienced early sensory involvement, confirmed by nerve biopsy. We review sensory symptoms in SOD1 ALS and discuss its possible origin in D90A heterozygous patients.
Giannini
Fabio
F
Departments of Neurosciences, University of Siena, Italy. gianninif@unisi.it <gianninif@unisi.it>
Battistini
Stefania
S
Mancuso
Michelangelo
M
Greco
Giuseppe
G
Ricci
Claudia
C
Volpi
Nila
N
Del Corona
Alberto
A
Piazza
Selina
S
Siciliano
Gabriele
G
D000690:Amyotrophic Lateral Sclerosis / Q000453:epidemiology / Q000235:genetics* / Q000473:pathology; D001706:Biopsy; D005091:Exons / Q000235:genetics; D005192:Family Health; D005260:Female; D020022:Genetic Predisposition to Disease; D006579:Heterozygote; D006801:Humans; D007558:Italy / Q000453:epidemiology; D008297:Male; D008875:Middle Aged; D017354:Point Mutation; D015995:Prevalence; D013482:Superoxide Dismutase / Q000235:genetics*; D000072105:Superoxide Dismutase-1; D013497:Sural Nerve / Q000473:pathology
C000606290:SOD1 protein, human; D013482:Superoxide Dismutase; D000072105:Superoxide Dismutase-1