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MRI characteristics due to gene mutations in a Chinese pedigree with Lafora disease

BACKGROUND AND PURPOSE: Lafora disease (LD) is a very rare autosomal recessive disorder manifesting primarily as fatal, congenital, and neurodegenerative epilepsies. We aimed to describe the MRI characteristics due to gene mutations in a Chinese pedigree with LD. METHODS: Whole‐exome sequencing, mus...

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Autores principales: Sun, Yueqian, Zhou, Ziqi, Wang, Qun, Yan, Jing, Zhang, Zaiqiang, Cui, Tao
Formato: Online Artículo Texto
Lenguaje:English
Publicado: John Wiley and Sons Inc. 2023
Materias:
Acceso en línea:https://www.ncbi.nlm.nih.gov/pmc/articles/PMC10568394/
https://www.ncbi.nlm.nih.gov/pubmed/37455597
http://dx.doi.org/10.1002/mgg3.2228
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author Sun, Yueqian
Zhou, Ziqi
Wang, Qun
Yan, Jing
Zhang, Zaiqiang
Cui, Tao
author_facet Sun, Yueqian
Zhou, Ziqi
Wang, Qun
Yan, Jing
Zhang, Zaiqiang
Cui, Tao
author_sort Sun, Yueqian
collection PubMed
description BACKGROUND AND PURPOSE: Lafora disease (LD) is a very rare autosomal recessive disorder manifesting primarily as fatal, congenital, and neurodegenerative epilepsies. We aimed to describe the MRI characteristics due to gene mutations in a Chinese pedigree with LD. METHODS: Whole‐exome sequencing, muscle biopsy, pedigree analysis, and MRI analysis were conducted. Five family members (two of whom were affected by LD) were whole‐genome sequenced. Longitudinal changes in brain MRI volumes were analyzed by Freesurfer. RESULTS: We identified a new intron heterozygous mutation in the EMP2A gene c.71 (exon 1) G>A in a Chinese LD pedigree that was characterized by refractory seizures, progressive vision impairment, and declines in motor and cognitive functions. The patient suffered generalized tonic–clonic seizures since the age of 15 years and had severe forms of progressive myoclonic seizure. She eventually died after being admitted to the intensive care unit due to status epilepticus at the age of 24 years. Period acid Schiff staining showed positive polyglucosan particles in muscle biopsy specimens. Regions of atrophy in the whole brain, and especially in the hippocampus, were detected. CONCLUSIONS: We identified a new heterozygous mutation (c.71+1G>A) in a Chinese LD pedigree, which broadens the mutation spectrum of LD genes. We found that the patient exhibited brain volumetric atrophy along with rapidly worsening symptoms. These results contribute to our understanding of LD.
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spelling pubmed-105683942023-10-13 MRI characteristics due to gene mutations in a Chinese pedigree with Lafora disease Sun, Yueqian Zhou, Ziqi Wang, Qun Yan, Jing Zhang, Zaiqiang Cui, Tao Mol Genet Genomic Med Original Articles BACKGROUND AND PURPOSE: Lafora disease (LD) is a very rare autosomal recessive disorder manifesting primarily as fatal, congenital, and neurodegenerative epilepsies. We aimed to describe the MRI characteristics due to gene mutations in a Chinese pedigree with LD. METHODS: Whole‐exome sequencing, muscle biopsy, pedigree analysis, and MRI analysis were conducted. Five family members (two of whom were affected by LD) were whole‐genome sequenced. Longitudinal changes in brain MRI volumes were analyzed by Freesurfer. RESULTS: We identified a new intron heterozygous mutation in the EMP2A gene c.71 (exon 1) G>A in a Chinese LD pedigree that was characterized by refractory seizures, progressive vision impairment, and declines in motor and cognitive functions. The patient suffered generalized tonic–clonic seizures since the age of 15 years and had severe forms of progressive myoclonic seizure. She eventually died after being admitted to the intensive care unit due to status epilepticus at the age of 24 years. Period acid Schiff staining showed positive polyglucosan particles in muscle biopsy specimens. Regions of atrophy in the whole brain, and especially in the hippocampus, were detected. CONCLUSIONS: We identified a new heterozygous mutation (c.71+1G>A) in a Chinese LD pedigree, which broadens the mutation spectrum of LD genes. We found that the patient exhibited brain volumetric atrophy along with rapidly worsening symptoms. These results contribute to our understanding of LD. John Wiley and Sons Inc. 2023-07-17 /pmc/articles/PMC10568394/ /pubmed/37455597 http://dx.doi.org/10.1002/mgg3.2228 Text en © 2023 The Authors. Molecular Genetics & Genomic Medicine published by Wiley Periodicals LLC. https://creativecommons.org/licenses/by-nc-nd/4.0/This is an open access article under the terms of the http://creativecommons.org/licenses/by-nc-nd/4.0/ (https://creativecommons.org/licenses/by-nc-nd/4.0/) License, which permits use and distribution in any medium, provided the original work is properly cited, the use is non‐commercial and no modifications or adaptations are made.
spellingShingle Original Articles
Sun, Yueqian
Zhou, Ziqi
Wang, Qun
Yan, Jing
Zhang, Zaiqiang
Cui, Tao
MRI characteristics due to gene mutations in a Chinese pedigree with Lafora disease
title MRI characteristics due to gene mutations in a Chinese pedigree with Lafora disease
title_full MRI characteristics due to gene mutations in a Chinese pedigree with Lafora disease
title_fullStr MRI characteristics due to gene mutations in a Chinese pedigree with Lafora disease
title_full_unstemmed MRI characteristics due to gene mutations in a Chinese pedigree with Lafora disease
title_short MRI characteristics due to gene mutations in a Chinese pedigree with Lafora disease
title_sort mri characteristics due to gene mutations in a chinese pedigree with lafora disease
topic Original Articles
url https://www.ncbi.nlm.nih.gov/pmc/articles/PMC10568394/
https://www.ncbi.nlm.nih.gov/pubmed/37455597
http://dx.doi.org/10.1002/mgg3.2228
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