Pseudodominant AOA2

Laurence Newrick; Alexander Taylor; Marios Hadjivassiliou

doi:10.1186/s40673-015-0024-0

Pseudodominant AOA2

Laurence Newrick, Alexander Taylor, Marios Hadjivassiliou

Cancer and Genomic Sciences

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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.

Original language	English
Article number	5
Journal	Cerebellum & Ataxias
Volume	2
Issue number	1
DOIs	https://doi.org/10.1186/s40673-015-0024-0
Publication status	Published - 30 Apr 2015

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10.1186/s40673-015-0024-0Licence: Creative Commons: Attribution (CC BY)

Newrick_et_al_Pseudodominant_AOA2_Cerebellum_&_Ataxias_2015
Newrick et al. Pseudodominant AOA2. Cerebellum & Ataxias 2015 2:5 https://doi.org/10.1186/s40673-015-0024-0
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title = "Pseudodominant AOA2",

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.",

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N2 - 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.

AB - 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.

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Pseudodominant AOA2

Abstract

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