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Article

ATAXIN2 CAG-repeat length in Italian patients with amyotrophic lateral sclerosis: risk factor or variant phenotype? Implication for genetic testing and counseling.

Neurobiology of aging - 1 Aug 2012

Gellera Cinzia, Ticozzi Nicola, Pensato Viviana, Nanetti Lorenzo, Castucci Alessia, Castellotti Barbara, Lauria Giuseppe, Taroni Franco, Silani Vincenzo, Mariotti Caterina

Abstract excerpt

Amyotrophic lateral sclerosis (ALS) is a neurodegenerative disease mainly involving cortical and spinal motor neurons. Several studies indicated that intermediate CAG expansions in ataxin-2 gene (ATXN2) are associated with increased risk of ALS. We analyzed ATXN2 CAG repeats in 658 sporadic ALS patients (SALS), 143 familial ALS cases (FALS), 231 sporadic ataxic subjects, and 551 control subjects. The frequency of...

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Identifiers

PMID: 22425256
DOI: 10.1016/j.neurobiolaging.2012.02.004

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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