Detection of ATXN2 Expansions in an Exome Dataset: An Underdiagnosed Cause of Parkinsonism

BACKGROUND: CAG‐repeat expansions in Ataxin 2 (ATXN2) are known to cause spinocerebellar ataxia type 2 (SCA2), but CAA interrupted expansions may also result in autosomal dominant Parkinson's disease (AD PD). However, because of technical limitations, such expansions are not explored in whole e...

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Detalles Bibliográficos
Autores principales: Casse, Fanny, Courtin, Thomas, Tesson, Christelle, Ferrien, Mélanie, Noël, Sandrine, Fauret‐Amsellem, Anne‐Laure, Gareau, Thomas, Guegan, Justine, Anheim, Mathieu, Mariani, Louise‐Laure, Le Forestier, Nadine, Tranchant, Christine, Corvol, Jean‐Christophe, Lesage, Suzanne, Brice, Alexis
Formato: Online Artículo Texto
Lenguaje:English
Publicado: John Wiley & Sons, Inc. 2023
Materias:
Brief Reports
Acceso en línea:https://www.ncbi.nlm.nih.gov/pmc/articles/PMC10105108/
https://www.ncbi.nlm.nih.gov/pubmed/37070044
http://dx.doi.org/10.1002/mdc3.13699

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