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Article

ATXN2 intermediate expansions in amyotrophic lateral sclerosis.

Brain : a journal of neurology - 27 Aug 2022

Glass Jonathan D, Dewan Ramita, Ding Jinhui, Gibbs J Raphael, Dalgard Clifton, Keagle Pamela J, Shankaracharya, García-Redondo Alberto, Traynor Bryan J, Chia Ruth, Landers John E

Abstract excerpt

Intermediate CAG (polyQ) expansions in the gene ataxin-2 (ATXN2) are now recognized as a risk factor for amyotrophic lateral sclerosis. The threshold for increased risk is not yet firmly established, with reports ranging from 27 to 31 repeats. We investigated the presence of ATXN2 polyQ expansions in 9268 DNA samples collected from people with amyotrophic lateral sclerosis, amyotrophic lateral sclerosis with...

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Identifiers

PMID: 35521889
DOI: 10.1093/brain/awac167
PMCID: PMC9890463

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