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Article

ATXN2 is a modifier of phenotype in ALS patients of Sardinian ancestry.

Neurobiology of aging - 1 Oct 2015

Borghero Giuseppe, Pugliatti Maura, Marrosu Francesco, Marrosu Maria Giovanna, Murru Maria Rita, Floris Gianluca, Cannas Antonino, Parish Leslie D, Cau Tea B, Loi Daniela, Ticca Anna, Traccis Sebastiano, Manera Umberto, Canosa Antonio, Moglia Cristina, Calvo Andrea, Barberis Marco, Brunetti Maura, Renton Alan E, Nalls Mike A, Traynor Bryan J, Restagno Gabriella, Chiò Adriano

Abstract excerpt

Intermediate-length CAG expansions (encoding 27-33 glutamines, polyQ) of the Ataxin2 (ATXN2) gene represent a risk factor for amyotrophic lateral sclerosis (ALS). Recently, it has been proposed that ≥31 CAG expansions may influence ALS phenotype. We assessed whether ATXN2 intermediate-length polyQ expansions influence ALS phenotype in a series of 375 patients of Sardinian ancestry. Controls were 247...

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Identifiers

PMID: 26208502
DOI: 10.1016/j.neurobiolaging.2015.06.013
PMCID: PMC5193218

Genes

ATXN2

Provenance

PubMed metadata and Literature Corpus relationships. Corpus snapshot updated 7 Sept 2026. Manifest publication-graph-cohort-2026-09-08.1.

Source receipt: pubmed, retrieved 7 Sept 2026.

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