Association Between Late-Onset Leukoencephalopathy With Vanishing White Matter and Compound Heterozygous EIF2B5 Gene Mutations: A Case Report and Review of the Literature

Leukoencephalopathy with vanishing white matter (LVWM) is an autosomal recessive disease. Ovarioleukodystrophy is defined as LVWM in females showing signs or symptoms of gradual ovarian failure. We present a 38-year-old female with ovarioleukodystrophy who showed status epilepticus, gait instability...

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Autores principales: Kong, Fanxin, Zheng, Haotao, Liu, Xuan, Lin, Songjun, Wang, Jianjun, Guo, Zhouke
Formato: Online Artículo Texto
Lenguaje:English
Publicado: Frontiers Media S.A. 2022
Materias:
Neurology
Acceso en línea:https://www.ncbi.nlm.nih.gov/pmc/articles/PMC9243765/
https://www.ncbi.nlm.nih.gov/pubmed/35785335
http://dx.doi.org/10.3389/fneur.2022.813032
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author Kong, Fanxin
Zheng, Haotao
Liu, Xuan
Lin, Songjun
Wang, Jianjun
Guo, Zhouke
author_facet Kong, Fanxin
Zheng, Haotao
Liu, Xuan
Lin, Songjun
Wang, Jianjun
Guo, Zhouke
author_sort Kong, Fanxin
collection PubMed
description Leukoencephalopathy with vanishing white matter (LVWM) is an autosomal recessive disease. Ovarioleukodystrophy is defined as LVWM in females showing signs or symptoms of gradual ovarian failure. We present a 38-year-old female with ovarioleukodystrophy who showed status epilepticus, gait instability, slurred speech, abdominal tendon hyperreflexia, and ovarian failure. Abnormal EEG, characteristic magnetic resonance, and unreported EIF2B5 compound heterozygous mutations [c.1016G>A (p.R339Q) and c.1157G>A (p.G386D)] were found. Furthermore, the present report summarizes 20 female patients with adult-onset ovarioleukodystrophy and EIF2B5 gene mutations. In conclusion, a new genetic locus for LVWM was discovered. Compared with previous cases, mutations at different EIF2B5 sites might have different clinical manifestations and obvious clinical heterogeneity.
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spelling pubmed-92437652022-07-01 Association Between Late-Onset Leukoencephalopathy With Vanishing White Matter and Compound Heterozygous EIF2B5 Gene Mutations: A Case Report and Review of the Literature Kong, Fanxin Zheng, Haotao Liu, Xuan Lin, Songjun Wang, Jianjun Guo, Zhouke Front Neurol Neurology Leukoencephalopathy with vanishing white matter (LVWM) is an autosomal recessive disease. Ovarioleukodystrophy is defined as LVWM in females showing signs or symptoms of gradual ovarian failure. We present a 38-year-old female with ovarioleukodystrophy who showed status epilepticus, gait instability, slurred speech, abdominal tendon hyperreflexia, and ovarian failure. Abnormal EEG, characteristic magnetic resonance, and unreported EIF2B5 compound heterozygous mutations [c.1016G>A (p.R339Q) and c.1157G>A (p.G386D)] were found. Furthermore, the present report summarizes 20 female patients with adult-onset ovarioleukodystrophy and EIF2B5 gene mutations. In conclusion, a new genetic locus for LVWM was discovered. Compared with previous cases, mutations at different EIF2B5 sites might have different clinical manifestations and obvious clinical heterogeneity. Frontiers Media S.A. 2022-06-16 /pmc/articles/PMC9243765/ /pubmed/35785335 http://dx.doi.org/10.3389/fneur.2022.813032 Text en Copyright © 2022 Kong, Zheng, Liu, Lin, Wang and Guo. https://creativecommons.org/licenses/by/4.0/This is an open-access article distributed under the terms of the Creative Commons Attribution License (CC BY). The use, distribution or reproduction in other forums is permitted, provided the original author(s) and the copyright owner(s) are credited and that the original publication in this journal is cited, in accordance with accepted academic practice. No use, distribution or reproduction is permitted which does not comply with these terms.
spellingShingle Neurology
Kong, Fanxin
Zheng, Haotao
Liu, Xuan
Lin, Songjun
Wang, Jianjun
Guo, Zhouke
Association Between Late-Onset Leukoencephalopathy With Vanishing White Matter and Compound Heterozygous EIF2B5 Gene Mutations: A Case Report and Review of the Literature
title Association Between Late-Onset Leukoencephalopathy With Vanishing White Matter and Compound Heterozygous EIF2B5 Gene Mutations: A Case Report and Review of the Literature
title_full Association Between Late-Onset Leukoencephalopathy With Vanishing White Matter and Compound Heterozygous EIF2B5 Gene Mutations: A Case Report and Review of the Literature
title_fullStr Association Between Late-Onset Leukoencephalopathy With Vanishing White Matter and Compound Heterozygous EIF2B5 Gene Mutations: A Case Report and Review of the Literature
title_full_unstemmed Association Between Late-Onset Leukoencephalopathy With Vanishing White Matter and Compound Heterozygous EIF2B5 Gene Mutations: A Case Report and Review of the Literature
title_short Association Between Late-Onset Leukoencephalopathy With Vanishing White Matter and Compound Heterozygous EIF2B5 Gene Mutations: A Case Report and Review of the Literature
title_sort association between late-onset leukoencephalopathy with vanishing white matter and compound heterozygous eif2b5 gene mutations: a case report and review of the literature
topic Neurology
url https://www.ncbi.nlm.nih.gov/pmc/articles/PMC9243765/
https://www.ncbi.nlm.nih.gov/pubmed/35785335
http://dx.doi.org/10.3389/fneur.2022.813032
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