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Article

ATXN1 intermediate-length polyglutamine expansions are associated with amyotrophic lateral sclerosis.

Neurobiology of aging - 1 Apr 2018

Lattante Serena, Pomponi Maria Grazia, Conte Amelia, Marangi Giuseppe, Bisogni Giulia, Patanella Agata Katia, Meleo Emiliana, Lunetta Christian, Riva Nilo, Mosca Lorena, Carrera Paola, Bee Marco, Zollino Marcella, Sabatelli Mario

Abstract excerpt

To clarify the possible involvement of intermediate ATXN1 alleles as risk factors for amyotrophic lateral sclerosis (ALS), we tested ATXN1 in a cohort of 1146 Italian ALS patients, previously screened for variants in other ALS genes, and in 529 controls. We detected ATXN1 alleles with ≥33 polyglutamine repeats in 105 of 1146 patients (9.16%) and 29 of 529 controls (5.48%) (p = 0.003). The frequency of ATXN1...

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Identifiers

PMID: 29274668
DOI: 10.1016/j.neurobiolaging.2017.11.011

Genes

ATXN1

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