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A Recurrent De Novo Variant in EIF2AK2 Causes a Hypomyelinating Leukodystrophy

De novo pathogenic variants in EIF2AK2 have recently been reported as a novel genetic cause of leukoencephalopathy. Here, we describe a male individual who presented in the first year of life with clinical features resembling Pelizaeus-Merzbacher disease (PMD), including nystagmus, hypotonia, and gl...

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Autores principales: Macintosh, Julia, Thiffault, Isabelle, Pastinen, Tomi, Sztriha, László, Bernard, Geneviève
Formato: Online Artículo Texto
Lenguaje:English
Publicado: SAGE Publications 2023
Materias:
Acceso en línea:https://www.ncbi.nlm.nih.gov/pmc/articles/PMC10240855/
https://www.ncbi.nlm.nih.gov/pubmed/37284702
http://dx.doi.org/10.1177/2329048X231176673
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author Macintosh, Julia
Thiffault, Isabelle
Pastinen, Tomi
Sztriha, László
Bernard, Geneviève
author_facet Macintosh, Julia
Thiffault, Isabelle
Pastinen, Tomi
Sztriha, László
Bernard, Geneviève
author_sort Macintosh, Julia
collection PubMed
description De novo pathogenic variants in EIF2AK2 have recently been reported as a novel genetic cause of leukoencephalopathy. Here, we describe a male individual who presented in the first year of life with clinical features resembling Pelizaeus-Merzbacher disease (PMD), including nystagmus, hypotonia, and global developmental delay, and which later progressed to include ataxia and spasticity. Brain MRI at the age of two revealed diffuse hypomyelination. This report adds to the limited number of individuals published and further reinforces de novo variants in EIF2AK2 as a molecular cause of a leukodystrophy that clinically and radiologically resembles PMD.
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spelling pubmed-102408552023-06-06 A Recurrent De Novo Variant in EIF2AK2 Causes a Hypomyelinating Leukodystrophy Macintosh, Julia Thiffault, Isabelle Pastinen, Tomi Sztriha, László Bernard, Geneviève Child Neurol Open Case Report De novo pathogenic variants in EIF2AK2 have recently been reported as a novel genetic cause of leukoencephalopathy. Here, we describe a male individual who presented in the first year of life with clinical features resembling Pelizaeus-Merzbacher disease (PMD), including nystagmus, hypotonia, and global developmental delay, and which later progressed to include ataxia and spasticity. Brain MRI at the age of two revealed diffuse hypomyelination. This report adds to the limited number of individuals published and further reinforces de novo variants in EIF2AK2 as a molecular cause of a leukodystrophy that clinically and radiologically resembles PMD. SAGE Publications 2023-05-29 /pmc/articles/PMC10240855/ /pubmed/37284702 http://dx.doi.org/10.1177/2329048X231176673 Text en © The Author(s) 2023 https://creativecommons.org/licenses/by-nc/4.0/This article is distributed under the terms of the Creative Commons Attribution-NonCommercial 4.0 License (https://creativecommons.org/licenses/by-nc/4.0/) which permits non-commercial use, reproduction and distribution of the work without further permission provided the original work is attributed as specified on the SAGE and Open Access page (https://us.sagepub.com/en-us/nam/open-access-at-sage).
spellingShingle Case Report
Macintosh, Julia
Thiffault, Isabelle
Pastinen, Tomi
Sztriha, László
Bernard, Geneviève
A Recurrent De Novo Variant in EIF2AK2 Causes a Hypomyelinating Leukodystrophy
title A Recurrent De Novo Variant in EIF2AK2 Causes a Hypomyelinating Leukodystrophy
title_full A Recurrent De Novo Variant in EIF2AK2 Causes a Hypomyelinating Leukodystrophy
title_fullStr A Recurrent De Novo Variant in EIF2AK2 Causes a Hypomyelinating Leukodystrophy
title_full_unstemmed A Recurrent De Novo Variant in EIF2AK2 Causes a Hypomyelinating Leukodystrophy
title_short A Recurrent De Novo Variant in EIF2AK2 Causes a Hypomyelinating Leukodystrophy
title_sort recurrent de novo variant in eif2ak2 causes a hypomyelinating leukodystrophy
topic Case Report
url https://www.ncbi.nlm.nih.gov/pmc/articles/PMC10240855/
https://www.ncbi.nlm.nih.gov/pubmed/37284702
http://dx.doi.org/10.1177/2329048X231176673
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