title: Sporadic motor neuron disease in a familial novel SOD1 mutation: incomplete penetrance or chance association?
abstract: Cu/Zn superoxide dismutase (SOD1) gene mutations have been reported in familial and sporadic amyotrophic lateral sclerosis (ALS). We report a novel G61R SOD1 mutation in a patient with a distinct phenotype including prominent lower motor neuron dysfunction, proximal weakness and atrophy with asymmetrical onset in the thigh and buttock and relentless clinical course. The G61R mutation segregated in three unaffected relatives including the 80-year-old mother and two of the proband's siblings. Potential mechanisms include an autosomal dominant condition with reduced penetrance or a chance association.
authors.affiliation: Department of Neurosciences, University of Catania, Catania, Italy.
authors.forename: Francesca L
authors.initials: FL
authors.lastname: Conforti
authors.forename: Rita
authors.initials: R
authors.lastname: Barone
authors.forename: Salvatore Lo
authors.initials: SL
authors.lastname: Fermo
authors.forename: Claudia
authors.initials: C
authors.lastname: Giliberto
authors.forename: Francesco
authors.initials: F
authors.lastname: Patti
authors.forename: Antonio
authors.initials: A
authors.lastname: Gambardella
authors.forename: Aldo
authors.initials: A
authors.lastname: Quattrone
authors.forename: Mario
authors.initials: M
authors.lastname: Zappia
mesh_terms: D000369:Aged, 80 and over; D005260:Female; D006801:Humans; D008297:Male; D008875:Middle Aged; D016472:Motor Neuron Disease / Q000201:enzymology* / Q000235:genetics* / Q000473:pathology / Q000503:physiopathology; D009154:Mutation; D010375:Pedigree; D019683:Penetrance; D013482:Superoxide Dismutase / Q000235:genetics*; D000072105:Superoxide Dismutase-1
chemical_list: C000606290:SOD1 protein, human; D013482:Superoxide Dismutase; D000072105:Superoxide Dismutase-1