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Article

[Ataxia with oculomotor apraxia: clinical-genetic characteristics and DNA-diagnostic].

Zhurnal nevrologii i psikhiatrii imeni S.S. Korsakova - 1 Jan 2012

Rudenskaia G E, Kurkina M V, Zakharova E Iu

Abstract excerpt

AOA are autosomal recessive ataxias with a common feature of oculomotor apraxia (OA) - inability to coordinate eye movements. The group includes AOA1 (APTX gene), relatively common AOA2 (SETX gene) and AOA3 (PIK 3R5 gene) described in 2012 in a Saudi family. OA is typical also for Louis-Bar ataxia-telangiectasia and its variants. А first Russian AOA2 case confirmed by DNA test is presented. The disease in a...

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Identifiers

PMID: 23250602

Genes

APTX
SETX

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