title: Clinical features and Cu/Zn superoxide dismutase gene mutations in two mainland Chinese families with amyotrophic lateral sclerosis.
abstract: Clinical information of two families with amyotrophic lateral sclerosis (ALS) was studied and a mutation analysis of the SOD1 gene was performed using direct DNA sequencing. Two previously reported mutations of the SOD1 gene, G20T (Cys6Phe substitution), and G255C (Leu84Phe substitution), were identified and cosegregated with the disease in the two families. Patients with a Cys6Phe mutation demonstrated rapid disease progression with severe clinical phenotypes, and the patients with a Leu84Phe mutation had a variety of different clinical phenotypes. This is the third report of SOD1 gene mutations in Mainland Chinese patients with different ALS phenotypes. This supports the hypothesis that the clinical course of ALS may vary depending on the specific genetic mutation.
authors.affiliation: Department of Neurology, Second Affiliated Hospital, College of Medicine, Zhejiang University, Hangzhou, PR China.
authors.forename: Guohua
authors.initials: G
authors.lastname: Zhao
authors.forename: Xinzhen
authors.initials: X
authors.lastname: Yin
authors.forename: Dingwen
authors.initials: D
authors.lastname: Wu
authors.forename: Shanying
authors.initials: S
authors.lastname: Mao
authors.forename: Houmin
authors.initials: H
authors.lastname: Yin
authors.forename: Baorong
authors.initials: B
authors.lastname: Zhang
mesh_terms: D000328:Adult; D000690:Amyotrophic Lateral Sclerosis / Q000201:enzymology* / Q000208:ethnology / Q000235:genetics*; D044466:Asian People / Q000208:ethnology / Q000235:genetics; D002681:China / Q000208:ethnology; D005260:Female; D020022:Genetic Predisposition to Disease / Q000208:ethnology / Q000235:genetics; D005838:Genotype; D006801:Humans; D008297:Male; D008875:Middle Aged; D020125:Mutation, Missense / Q000235:genetics*; D010375:Pedigree; D013482:Superoxide Dismutase / Q000235:genetics*; D000072105:Superoxide Dismutase-1
chemical_list: C000606290:SOD1 protein, human; D013482:Superoxide Dismutase; D000072105:Superoxide Dismutase-1