Pseudodominant AOA2

Cerebellum & Ataxias
Laurence NewrickMarios Hadjivassiliou

Abstract

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.

References

Feb 11, 2004·Nature Genetics·Maria-Céu MoreiraMichel Koenig
Apr 22, 2004·Lancet Neurology·Ludger SchölsOlaf Riess
Feb 17, 2007·Lancet Neurology·Brent L Fogel, Susan Perlman
Mar 20, 2008·Journal of Neurology·Ludger SchölsDagmar Timmann
Sep 14, 2013·Brain : a Journal of Neurology·Andrea H NémethJiannis Ragoussis

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