Contribution of ATXN2 intermediary polyQ expansions in a spectrum of neurodegenerative disorders.

doi:10.1212/WNL.0000000000000778

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Article

Contribution of ATXN2 intermediary polyQ expansions in a spectrum of neurodegenerative disorders.

Neurology - 9 Sept 2014

Lattante Serena, Millecamps Stéphanie, Stevanin Giovanni, Rivaud-Péchoux Sophie, Moigneu Carine, Camuzat Agnès, Da Barroca Sandra, Mundwiller Emeline, Couarch Philippe, Salachas François, Hannequin Didier, Meininger Vincent, Pasquier Florence, Seilhean Danielle, Couratier Philippe, Danel-Brunaud Véronique, Bonnet Anne-Marie, Tranchant Christine, LeGuern Eric, Brice Alexis, Le Ber Isabelle, Kabashi Edor

Abstract excerpt

OBJECTIVE: The aim of this study was to establish the frequency of ATXN2 polyglutamine (polyQ) expansion in large cohorts of patients with amyotrophic lateral sclerosis (ALS), frontotemporal dementia (FTD), and progressive supranuclear palsy (PSP), and to evaluate whether ATXN2 could act as a modifier gene in patients carrying the C9orf72 expansion. METHODS: We screened a large cohort of French patients (1,144...

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Identifiers

PMID: 25098532
DOI: 10.1212/WNL.0000000000000778
PMCID: PMC4162303

Genes

ATXN2

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PubMed metadata and Literature Corpus relationships. Corpus snapshot updated 6 Sept 2026. Manifest publication-graph-cohort-2026-09-06.1.

Source receipt: pubmed, retrieved 6 Sept 2026.

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