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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...
Autores principales: | , , , , |
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Formato: | Online Artículo Texto |
Lenguaje: | English |
Publicado: |
SAGE Publications
2023
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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. |
format | Online Article Text |
id | pubmed-10240855 |
institution | National Center for Biotechnology Information |
language | English |
publishDate | 2023 |
publisher | SAGE Publications |
record_format | MEDLINE/PubMed |
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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