title: D90A-SOD1 mutation in ALS: The first report of heterozygous Italian patients and unusual findings.
abstract: 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.
authors.affiliation: Departments of Neurosciences, University of Siena, Italy. gianninif@unisi.it <gianninif@unisi.it>
authors.forename: Fabio
authors.initials: F
authors.lastname: Giannini
authors.forename: Stefania
authors.initials: S
authors.lastname: Battistini
authors.forename: Michelangelo
authors.initials: M
authors.lastname: Mancuso
authors.forename: Giuseppe
authors.initials: G
authors.lastname: Greco
authors.forename: Claudia
authors.initials: C
authors.lastname: Ricci
authors.forename: Nila
authors.initials: N
authors.lastname: Volpi
authors.forename: Alberto
authors.initials: A
authors.lastname: Del Corona
authors.forename: Selina
authors.initials: S
authors.lastname: Piazza
authors.forename: Gabriele
authors.initials: G
authors.lastname: Siciliano
mesh_terms: 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
chemical_list: C000606290:SOD1 protein, human; D013482:Superoxide Dismutase; D000072105:Superoxide Dismutase-1