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Article

A new SETX mutation producing AOA2 in two siblings.

The International journal of neuroscience - 1 Sept 2013

Datta Neil, Hohler Anna

Abstract excerpt

OBJECTIVE: In this paper, we document two cases of a new SETX mutation (820:A>G) combined with an established recessive SETX mutation (5927:T>G) causing ataxia with oculomotor apraxia type 2 (AOA2). METHODS: The patients had a detailed neurological history and examination performed. Radiological imaging was obtained and genetic analysis was obtained. RESULTS: Both siblings demonstrated healthy and normal growth...

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Identifiers

PMID: 23566282
DOI: 10.3109/00207454.2013.787616

Genes

SETX

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