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Article

Absence of aprataxin gene mutations in a Greek cohort with sporadic early onset ataxia and normal GAA triplets in frataxin gene.

Neurological sciences : official journal of the Italian Neurological Society and of the Italian Society of Clinical Neurophysiology - 1 Jun 2010

Daiou C, Christodoulou K, Xiromerisiou G, Panas M, Dardiotis E, Kladi A, Speletas M, Ntaios G, Papadimitriou A, Germenis A, Hadjigeorgiou Georgios M

Abstract excerpt

Phenotype of patients with the aprataxin gene mutation varies and according to previous studies, screening of aprataxin gene could be useful, once frataxin gene mutation is excluded in patients with normal GAA expansion in frataxin gene. In the present study, we sought to determine possible causa...

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Identifiers

PMID: 19953284
DOI: 10.1007/s10072-009-0201-0

Genes

GAA

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PubMed metadata and Literature Corpus relationships. Corpus snapshot updated 2 Sept 2026. Prepared record publication-19953284-2026-09-02.2. Manifest publication-graph-cohort-2026-09-02.2.

Source receipt: PubMed via Helena Literature Corpus, retrieved 2 Sept 2026.

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