Pseudodominant AOA2

Laurence Newrick, Alexander Taylor, Marios Hadjivassiliou

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We report a mother and daughter with autosomal recessive ataxia with occulomotor apraxia in whom sequence analysis of senataxin revealed a dignosis of AOA2 (ataxia with occulomotor apraxia type 2) in both individuals. The apparent dominant inheritance pattern (pseudodominant) was the result of the unusual coincidence of both mother and daughter being compound heterozygotes for senataxin mutations. Our case exemplifies the challenges of diagnosis in hereditary ataxias, and the limitations of genetic testing guided solely by patterns of inheritance.
Original languageEnglish
Article number5
JournalCerebellum & Ataxias
Issue number1
Publication statusPublished - 30 Apr 2015


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