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Article

Aprataxin gene mutations in Tunisian families.

Neurology - 14 Sept 2004

Amouri R, Moreira M-C, Zouari M, El Euch G, Barhoumi C, Kefi M, Belal S, Koenig M, Hentati F

Abstract excerpt

The authors report clinical and genetic study of 13 patients from three unrelated Tunisian families with an early onset cerebellar ataxia associated with oculomotor apraxia. Cerebellar ataxia with oculomotor apraxia 1 (AOA1) represents a clinically heterogeneous disease caused by mutations in the aprataxin gene. Two novel mutations were identified, the complete deletion of the gene, which seems to not correlate...

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Identifiers

PMID: 15365154
DOI: 10.1212/01.wnl.0000137044.06573.46

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

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