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Early-Onset Parkinson's Disease Caused by PLA2G6 Compound Heterozygous Mutation, a Case Report and Literature Review
PLA2G6 has been certified as a causative gene in patients with autosomal recessive early-onset Parkinson's disease (EOPD). We reported an EOPD case caused by PLA2G6 gene mutation, and performed neurological examination, genetic analysis, and multimodal neuroimaging to describe this phenotype. A...
Autores principales: | , , , , , , , , , |
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Formato: | Online Artículo Texto |
Lenguaje: | English |
Publicado: |
Frontiers Media S.A.
2019
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Materias: | |
Acceso en línea: | https://www.ncbi.nlm.nih.gov/pmc/articles/PMC6712964/ https://www.ncbi.nlm.nih.gov/pubmed/31496990 http://dx.doi.org/10.3389/fneur.2019.00915 |
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author | Shen, Ting Hu, Jing Jiang, Yasi Zhao, Shuai Lin, Caixiu Yin, Xinzhen Yan, Yaping Pu, Jiali Lai, Hsin-Yi Zhang, Baorong |
author_facet | Shen, Ting Hu, Jing Jiang, Yasi Zhao, Shuai Lin, Caixiu Yin, Xinzhen Yan, Yaping Pu, Jiali Lai, Hsin-Yi Zhang, Baorong |
author_sort | Shen, Ting |
collection | PubMed |
description | PLA2G6 has been certified as a causative gene in patients with autosomal recessive early-onset Parkinson's disease (EOPD). We reported an EOPD case caused by PLA2G6 gene mutation, and performed neurological examination, genetic analysis, and multimodal neuroimaging to describe this phenotype. A compound heterozygous mutation c.991G>T/c.1472+1G>A was detected in this patient. Heterozygous for the c.991G>T and c.1472+1G>A were separately detected in his parents. Pathogenicity of these two mutations were predicted according to the American college of medical genetics and genomics (ACMG) guideline. MRI assessment showed absence of bilateral “swallow tail sign” and cerebellar atrophy in this patient, while no obvious difference in brain iron accumulation between PLA2G6 mutant PD patient and healthy controls. Cerebellar abnormalities may be a marker for diagnosis and evaluation of PLA2G6 mutation Parkinsonism. However, the iron accumulation in PD may not be the result of PLA2G6 mutation. |
format | Online Article Text |
id | pubmed-6712964 |
institution | National Center for Biotechnology Information |
language | English |
publishDate | 2019 |
publisher | Frontiers Media S.A. |
record_format | MEDLINE/PubMed |
spelling | pubmed-67129642019-09-06 Early-Onset Parkinson's Disease Caused by PLA2G6 Compound Heterozygous Mutation, a Case Report and Literature Review Shen, Ting Hu, Jing Jiang, Yasi Zhao, Shuai Lin, Caixiu Yin, Xinzhen Yan, Yaping Pu, Jiali Lai, Hsin-Yi Zhang, Baorong Front Neurol Neurology PLA2G6 has been certified as a causative gene in patients with autosomal recessive early-onset Parkinson's disease (EOPD). We reported an EOPD case caused by PLA2G6 gene mutation, and performed neurological examination, genetic analysis, and multimodal neuroimaging to describe this phenotype. A compound heterozygous mutation c.991G>T/c.1472+1G>A was detected in this patient. Heterozygous for the c.991G>T and c.1472+1G>A were separately detected in his parents. Pathogenicity of these two mutations were predicted according to the American college of medical genetics and genomics (ACMG) guideline. MRI assessment showed absence of bilateral “swallow tail sign” and cerebellar atrophy in this patient, while no obvious difference in brain iron accumulation between PLA2G6 mutant PD patient and healthy controls. Cerebellar abnormalities may be a marker for diagnosis and evaluation of PLA2G6 mutation Parkinsonism. However, the iron accumulation in PD may not be the result of PLA2G6 mutation. Frontiers Media S.A. 2019-08-21 /pmc/articles/PMC6712964/ /pubmed/31496990 http://dx.doi.org/10.3389/fneur.2019.00915 Text en Copyright © 2019 Shen, Hu, Jiang, Zhao, Lin, Yin, Yan, Pu, Lai and Zhang. http://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 Shen, Ting Hu, Jing Jiang, Yasi Zhao, Shuai Lin, Caixiu Yin, Xinzhen Yan, Yaping Pu, Jiali Lai, Hsin-Yi Zhang, Baorong Early-Onset Parkinson's Disease Caused by PLA2G6 Compound Heterozygous Mutation, a Case Report and Literature Review |
title | Early-Onset Parkinson's Disease Caused by PLA2G6 Compound Heterozygous Mutation, a Case Report and Literature Review |
title_full | Early-Onset Parkinson's Disease Caused by PLA2G6 Compound Heterozygous Mutation, a Case Report and Literature Review |
title_fullStr | Early-Onset Parkinson's Disease Caused by PLA2G6 Compound Heterozygous Mutation, a Case Report and Literature Review |
title_full_unstemmed | Early-Onset Parkinson's Disease Caused by PLA2G6 Compound Heterozygous Mutation, a Case Report and Literature Review |
title_short | Early-Onset Parkinson's Disease Caused by PLA2G6 Compound Heterozygous Mutation, a Case Report and Literature Review |
title_sort | early-onset parkinson's disease caused by pla2g6 compound heterozygous mutation, a case report and literature review |
topic | Neurology |
url | https://www.ncbi.nlm.nih.gov/pmc/articles/PMC6712964/ https://www.ncbi.nlm.nih.gov/pubmed/31496990 http://dx.doi.org/10.3389/fneur.2019.00915 |
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