A novel P66S mutation in exon 3 of the SOD1 gene with early onset and rapid progression.
Amyotrophic lateral sclerosis (ALS) is a fatal motor neuron disease in adults of unknown origin in most cases. Here we report a novel P66S mutation in exon 3 of the SOD1 gene in an apparently sporadic ALS patient with unusual early onset and rapid disease progression. Our data widen the spectrum of SOD1 mutations and clinical presentations of ALS.
Faculty of Biology, University of Belgrade, Studentski trg 16, Belgrade, Serbia. duskec@bio.bg.ac.rs
Dušan
D
Keckarević
Zorica
Z
Stević
Milica
M
Keckarević-Marković
Miljana
M
Kecmanović
Stanka
S
Romac
D017668:Age of Onset; D000690:Amyotrophic Lateral Sclerosis / Q000235:genetics* / Q000503:physiopathology*; D004252:DNA Mutational Analysis; D018450:Disease Progression; D005091:Exons; D017809:Fatal Outcome; D006801:Humans; D008297:Male; D009154:Mutation; D013482:Superoxide Dismutase / Q000235:genetics*; D000072105:Superoxide Dismutase-1; D055815:Young Adult
C000606290:SOD1 protein, human; D013482:Superoxide Dismutase; D000072105:Superoxide Dismutase-1