title: ATXN2 CAG repeat expansions increase the risk for Chinese patients with amyotrophic lateral sclerosis.
abstract: Amyotrophic lateral sclerosis (ALS) is a fatal neurodegenerative disorder with unclear etiology. Recently, intermediate CAG repeat expansions in ATXN2, the gene responsible for spinocerebellar ataxia type 2 (SCA2), have been identified as a possible genetic risk factor for ALS. In this study, we analyzed the ATXN2 CAG repeat length in Chinese patients with ALS to evaluate the relationship between the genotype and phenotype. We studied 1,067 patients with ALS and 506 controls from mainland China (excluding Tibet). We collected clinical data and analyzed fluorescent PCR products to assess ATXN2 CAG repeat length in all of the samples. We observed that intermediate CAG repeat expansions in ATXN2 (CAG repeat length >30) were associated with ALS (p = 0.004). There was no significant difference in clinical characteristics between the groups with and without intermediate CAG repeat expansions in ATXN2. Our data indicate that, for ALS patients from mainland China, intermediate CAG repeat expansions in ATXN2 increase the risk of ALS but have no effect on disease phenotype.
authors: Department of Neurology, Peking University Third Hospital, Beijing, China.
authors: Xiaolu
authors: X
authors: Liu
authors: Ming
authors: M
authors: Lu
authors: Lu
authors: L
authors: Tang
authors: Nan
authors: N
authors: Zhang
authors: Dehua
authors: D
authors: Chui
authors: Dongsheng
authors: D
authors: Fan
mesh_terms: D000328:Adult; D000368:Aged; D000690:Amyotrophic Lateral Sclerosis / Q000235:genetics*; D044466:Asian People / Q000235:genetics*; D000067528:Ataxins; D015331:Cohort Studies; D005260:Female; D006801:Humans; D008297:Male; D008875:Middle Aged; D009419:Nerve Tissue Proteins / Q000235:genetics*; D012307:Risk Factors; D020754:Spinocerebellar Ataxias / Q000235:genetics; D019680:Trinucleotide Repeat Expansion / Q000235:genetics*
chemical_list: D000067528:Ataxins; D009419:Nerve Tissue Proteins