Pseudodominant AOA2

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 u...

Descripción completa

Detalles Bibliográficos
Autores principales: Newrick, Laurence, Taylor, Malcolm, Hadjivassiliou, Marios
Formato: Online Artículo Texto
Lenguaje:English
Publicado: BioMed Central 2015
Materias:
Case Report
Acceso en línea:https://www.ncbi.nlm.nih.gov/pmc/articles/PMC4552145/
https://www.ncbi.nlm.nih.gov/pubmed/26331048
http://dx.doi.org/10.1186/s40673-015-0024-0
_version_ 1782387685853233152
author Newrick, Laurence
Taylor, Malcolm
Hadjivassiliou, Marios
author_facet Newrick, Laurence
Taylor, Malcolm
Hadjivassiliou, Marios
author_sort Newrick, Laurence
collection PubMed
description 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.
format Online
Article
Text
id pubmed-4552145
institution National Center for Biotechnology Information
language English
publishDate 2015
publisher BioMed Central
record_format MEDLINE/PubMed
spelling pubmed-45521452015-09-01 Pseudodominant AOA2 Newrick, Laurence Taylor, Malcolm Hadjivassiliou, Marios Cerebellum Ataxias Case Report 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. BioMed Central 2015-04-30 /pmc/articles/PMC4552145/ /pubmed/26331048 http://dx.doi.org/10.1186/s40673-015-0024-0 Text en © Newrick et al.; licensee BioMed Central. 2015 This is an Open Access article distributed under the terms of the Creative Commons Attribution License (http://creativecommons.org/licenses/by/4.0), which permits unrestricted use, distribution, and reproduction in any medium, provided the original work is properly credited. The Creative Commons Public Domain Dedication waiver (http://creativecommons.org/publicdomain/zero/1.0/) applies to the data made available in this article, unless otherwise stated.
spellingShingle Case Report
Newrick, Laurence
Taylor, Malcolm
Hadjivassiliou, Marios
Pseudodominant AOA2
title Pseudodominant AOA2
title_full Pseudodominant AOA2
title_fullStr Pseudodominant AOA2
title_full_unstemmed Pseudodominant AOA2
title_short Pseudodominant AOA2
title_sort pseudodominant aoa2
topic Case Report
url https://www.ncbi.nlm.nih.gov/pmc/articles/PMC4552145/
https://www.ncbi.nlm.nih.gov/pubmed/26331048
http://dx.doi.org/10.1186/s40673-015-0024-0
work_keys_str_mv AT newricklaurence pseudodominantaoa2
AT taylormalcolm pseudodominantaoa2
AT hadjivassilioumarios pseudodominantaoa2

Ejemplares similares