title: Vocal cord paralysis and rapid progressive motor neuron disease by the I113F mutation in SOD1 gene.
abstract: Familial cases of amyotrophic lateral sclerosis are most frequently caused by mutation in the superoxide dismutase-1 (SOD1) gene. We report a heterozygous I113F mutation in a patient with familial ALS characterized by early and predominant bilateral vocal cord paralysis followed by descending spinal cord paresis. Modelling of the mutant SOD1 showed an alteration of the protein secondary structure leading to impaired strength of the dimer interface. This may result in a failure of the protein folding and subsequently generation of toxic intracellular aggregates, suggesting a pathogenic role for the mutation.
authors.affiliation: Department of Neurology, Dresden University of Technology. andreas.hermann@uniklinikum-dresden.de
authors.forename: Andreas
authors.initials: A
authors.lastname: Hermann
authors.forename: Ulrike
authors.initials: U
authors.lastname: Reuner
authors.forename: Georg
authors.initials: G
authors.lastname: Ziethe
authors.forename: Andreas
authors.initials: A
authors.lastname: Bräuer
authors.forename: Uta
authors.initials: U
authors.lastname: Gölnitz
authors.forename: Arndt
authors.initials: A
authors.lastname: Rolfs
authors.forename: Claudia
authors.initials: C
authors.lastname: Ricci
mesh_terms: D018450:Disease Progression; D006801:Humans; D008297:Male; D008875:Middle Aged; D016472:Motor Neuron Disease / Q000175:diagnosis / Q000235:genetics*; D009154:Mutation / Q000235:genetics*; D010375:Pedigree; D017434:Protein Structure, Tertiary; D013482:Superoxide Dismutase / Q000737:chemistry / Q000235:genetics*; D000072105:Superoxide Dismutase-1; D013997:Time Factors; D014826:Vocal Cord Paralysis / Q000175:diagnosis / Q000235:genetics*
chemical_list: C000606290:SOD1 protein, human; D013482:Superoxide Dismutase; D000072105:Superoxide Dismutase-1