title: A novel SOD1 gene mutation in familial ALS with low penetrance in females.
abstract: We identified a novel missense mutation in the Cu/Zn superoxide dismutase gene in a family with amyotrophic lateral sclerosis (ALS). The mutation was a transition of T to C, resulting in a substitution of leucine 126 to serine in exon 5. The family had very unique clinical features of extremely mild severity only in the legs of two male patients with onset of 42 and 52 years old, and their mothers did not develop any symptom even after reaching the age of 80 and carrying the same mutation. The present study suggests that there are other factors that delay or prevent the disease.
authors.affiliation: Department of Neurology, Okayama University Graduate School of Medicine and Dentistry, 2-5-1 Shikata-cho, Okayama 700-8558, Japan.
authors.forename: T
authors.initials: T
authors.lastname: Murakami
authors.forename: H
authors.initials: H
authors.lastname: Warita
authors.forename: T
authors.initials: T
authors.lastname: Hayashi
authors.forename: K
authors.initials: K
authors.lastname: Sato
authors.forename: Y
authors.initials: Y
authors.lastname: Manabe
authors.forename: S
authors.initials: S
authors.lastname: Mizuno
authors.forename: K
authors.initials: K
authors.lastname: Yamane
authors.forename: K
authors.initials: K
authors.lastname: Abe
mesh_terms: D000328:Adult; D017668:Age of Onset; D000368:Aged; D000369:Aged, 80 and over; D019943:Amino Acid Substitution; D004252:DNA Mutational Analysis; D005260:Female; D020022:Genetic Predisposition to Disease; D006801:Humans; D007564:Japan; D008297:Male; D008875:Middle Aged; D016472:Motor Neuron Disease / Q000201:enzymology / Q000453:epidemiology / Q000235:genetics*; D020125:Mutation, Missense; D010375:Pedigree; D019683:Penetrance; D012737:Sex Factors; D013482:Superoxide Dismutase / Q000737:chemistry / Q000235:genetics*
chemical_list: D013482:Superoxide Dismutase