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Article

Characterization of two novel SETX mutations in AOA2 patients reveals aspects of the pathophysiological role of senataxin.

Neurogenetics - 1 Feb 2010

Airoldi Giovanni, Guidarelli Andrea, Cantoni Orazio, Panzeri Chris, Vantaggiato Chiara, Bonato Sara, Grazia D'Angelo Maria, Falcone Sestina, De Palma Clara, Tonelli Alessandra, Crimella Claudia, Bondioni Sara, Bresolin Nereo, Clementi Emilio, Bassi Maria Teresa

Abstract excerpt

Ataxia with oculomotor apraxia (AOA) type 2 (AOA2 MIM 606002) is a recessive subtype of AOA characterized by cerebellar atrophy, oculomotor apraxia, early loss of reflexes, and peripheral neuropathy. Various mutations either in homozygous or compound heterozygous condition were so far identified in the associated gene SETX (MIM 608465). SETX encodes a large protein called senataxin with a DNA-RNA helicase domain...

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PMID: 19593598
DOI: 10.1007/s10048-009-0206-0

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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.

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