title: Ataxin-2 intermediate-length polyglutamine: a possible risk factor for Chinese patients with amyotrophic lateral sclerosis.
abstract: Intermediate-length polyglutamine (polyQ) expansions in the ataxin-2 (ATXN2) gene have recently been identified as a risk factor for sporadic amyotrophic lateral sclerosis (SALS). Our study aims to analyze cytosine, adenine, guanine (CAG)n expansions in the ATXN2 gene among Chinese patients with SALS. All patients diagnosed with adult-onset sporadic amyotrophic lateral sclerosis (ALS) were consecutively followed up, and their clinical characteristics were collected. To measure the repeat length of ATXN2 polyQ, fluorescence-polymerase chain reaction products were analyzed on a 3100-Avant Genetic Analyzer Applied Biosystem (Foster City, CA, USA) using the ROC-500 size standard. Three hundred forty-five patients with SALS were studied. The mean age of onset was 51.38 ± 12.45 years. ATXN2 polyQ with a repeat length greater than 27 was found to be weakly associated with amyotrophic lateral sclerosis in our study. There was no significant difference in mean age of onset, gender, and onset site between the group of SALS patients with and without ATXN2 polyQ expansion greater than 27. Our finding provides evidence that the ATXN2 polyQ expansion greater than 27 might be a risk factor for Chinese SALS patients.
authors: Department of Neurology, West China Hospital, SiChuan University, Chengdu, Sichuan, China.
authors: Yongping
authors: Y
authors: Chen
authors: Rui
authors: R
authors: Huang
authors: Yuan
authors: Y
authors: Yang
authors: Ke
authors: K
authors: Chen
authors: Wei
authors: W
authors: Song
authors: Pinglei
authors: P
authors: Pan
authors: Jianpeng
authors: J
authors: Li
authors: Hui-Fang
authors: HF
authors: Shang
mesh_terms: D000328:Adult; D000368:Aged; D000369:Aged, 80 and over; D000690:Amyotrophic Lateral Sclerosis / Q000235:genetics* / Q000503:physiopathology; D044466:Asian People / Q000235:genetics; D000067528:Ataxins; D005260:Female; D056726:Genetic Association Studies; D006801:Humans; D008297:Male; D008875:Middle Aged; D009419:Nerve Tissue Proteins / Q000235:genetics*; D010455:Peptides / Q000235:genetics*; D012132:Respiratory Muscles / Q000503:physiopathology; D012307:Risk Factors
chemical_list: D000067528:Ataxins; D009419:Nerve Tissue Proteins; D010455:Peptides; C097188:polyglutamine