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Article

Identification and characterisation of a large senataxin (SETX) gene duplication in ataxia with ocular apraxia type 2 (AOA2).

Neurogenetics - 1 Oct 2008

Arning Larissa, Schöls Ludger, Cin Huriye, Souquet Manfred, Epplen Jörg T, Timmann Dagmar

Abstract excerpt

Autosomal recessive cerebellar ataxia with ocular apraxia type 2 (AOA2) is a neurodegenerative disorder characterised by early onset cerebellar ataxia, sensory-motor neuropathy and frequently increased levels of alpha-fetoprotein. We describe a male patient with a phenotype highly suggestive of AOA2, but only one point mutation found by sequencing of the SETX gene. Further analysis revealed a large out-of-frame...

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Source

Identifiers

PMID: 18663494
DOI: 10.1007/s10048-008-0139-z

Genes

SETX

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PubMed metadata and Literature Corpus relationships. Corpus snapshot updated 7 Sept 2026. Manifest publication-graph-cohort-2026-09-07.1.

Source receipt: pubmed, retrieved 7 Sept 2026.

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