Title : Ataxin-1 and ataxin-2 intermediate-length PolyQ expansions in amyotrophic lateral sclerosis.

Pub. Date : 2012 Dec 11

PMID : 23197749






8 Functional Relationships(s)
Download
Sentence
Compound Name
Protein Name
Organism
1 Ataxin-1 and ataxin-2 intermediate-length PolyQ expansions in amyotrophic lateral sclerosis. polyglutamine ataxin 2 Homo sapiens
2 OBJECTIVE: Recent evidence suggests that intermediate-length polyglutamine (PolyQ) expansions in the ataxin-2 (ATXN-2) gene are a risk factor for amyotrophic lateral sclerosis (ALS). polyglutamine ataxin 2 Homo sapiens
3 OBJECTIVE: Recent evidence suggests that intermediate-length polyglutamine (PolyQ) expansions in the ataxin-2 (ATXN-2) gene are a risk factor for amyotrophic lateral sclerosis (ALS). polyglutamine ataxin 2 Homo sapiens
4 OBJECTIVE: Recent evidence suggests that intermediate-length polyglutamine (PolyQ) expansions in the ataxin-2 (ATXN-2) gene are a risk factor for amyotrophic lateral sclerosis (ALS). polyglutamine ataxin 2 Homo sapiens
5 OBJECTIVE: Recent evidence suggests that intermediate-length polyglutamine (PolyQ) expansions in the ataxin-2 (ATXN-2) gene are a risk factor for amyotrophic lateral sclerosis (ALS). polyglutamine ataxin 2 Homo sapiens
6 This work was undertaken with the aim to investigate the frequency of ataxin-1 (ATXN-1) and ATXN-2 PolyQ expansions in a cohort of patients with sporadic ALS (sALS) and patients with familial ALS (fALS) from southern Italy. polyglutamine ataxin 2 Homo sapiens
7 RESULTS: We found significantly higher intermediate PolyQ expansions >= 32 for ATXN-1 alleles and >= 28 for ATXN-2 alleles in the sALS cohort (ATXN-1: ALS, 7.07% vs controls, 2.38%; p = 0.0001; ATXN-2: ALS, 2.72% vs controls, 0.5%; p = 0.001). polyglutamine ataxin 2 Homo sapiens
8 CONCLUSIONS: Both ATXN-1 and ATXN-2 PolyQ intermediate expansions are independently associated with an increased risk for ALS. polyglutamine ataxin 2 Homo sapiens