title: Clinical and genetic features of patients with sporadic amyotrophic lateral sclerosis in south-west China.
abstract: The objective of this study was to analyse clinical and genetic features of patients with sporadic ALS in south-west China. All patients diagnosed with adult-onset sporadic ALS were consecutively followed up, and their clinical characteristics were collected. The frequencies of alleles of six SNPs in the FLJ10986 gene and the association between these SNPs and the clinical features of ALS were analysed. One hundred and sixty-one patients were included in the study. The mean age of onset was 50.9+/-11.4 years. The mean diagnostic delay was 16.5+/-14.3 months and the mean disease duration was 30.7+/-23.5 months. Forty patients (24.2%) died during the period of follow-up. Positive correlation between mean delay and disease duration was found, as was negative correlation between onset age, mean delay and disease duration. The frequency of the 'G' variant of the SNP (rs10493256) was significantly higher than that in a control population. There was no significant difference in the frequencies of variant alleles regarding clinical features. In conclusion, SNP (rs10493256) in the FLJ10986 gene appears to increase the risk of developing sporadic ALS in our Chinese population. Our Clinical findings are in line with other studies. No association between the polymorphisms and clinical features was found.
authors.affiliation: Department of Neurology, West China Hospital, SiChuan University, Chengdu, Sichuan.
authors.forename: Deng-Fu
authors.initials: DF
authors.lastname: Fang
authors.forename: Shu-Shan
authors.initials: SS
authors.lastname: Zhang
authors.forename: Xiao-Yan
authors.initials: XY
authors.lastname: Guo
authors.forename: Yan
authors.initials: Y
authors.lastname: Zeng
authors.forename: Yuan
authors.initials: Y
authors.lastname: Yang
authors.forename: Dong
authors.initials: D
authors.lastname: Zhou
authors.forename: Hui-Fang
authors.initials: HF
authors.lastname: Shang
mesh_terms: D000328:Adult; D017668:Age of Onset; D000368:Aged; D000690:Amyotrophic Lateral Sclerosis / Q000235:genetics / Q000473:pathology / Q000503:physiopathology; D002681:China; D005260:Female; D020022:Genetic Predisposition to Disease; D006801:Humans; D008297:Male; D008875:Middle Aged; D020641:Polymorphism, Single Nucleotide; D011446:Prospective Studies; D055815:Young Adult