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Case report: Recurrent pontine stroke and leukoencephalopathy in a patient with de novo mutation in COL4A1

This report presents a case of pontine autosomal dominant microangiopathy with leukoencephalopathy (PADMAL) in a 35 year-old male patient. The patient exhibited a consistent history of recurrent ischemic strokes, concentrated primarily in the pons region, accompanied by concurrent manifestations of...

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Autores principales: Zhang, Hui, Fan, Kai-Li, Zhang, Yue-Qi, Hao, Xiao-Yan, Yuan, Xiang-Zhen, Zhang, Shu-Yun
Formato: Online Artículo Texto
Lenguaje:English
Publicado: Frontiers Media S.A. 2023
Materias:
Acceso en línea:https://www.ncbi.nlm.nih.gov/pmc/articles/PMC10564987/
https://www.ncbi.nlm.nih.gov/pubmed/37830085
http://dx.doi.org/10.3389/fneur.2023.1237847
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author Zhang, Hui
Fan, Kai-Li
Zhang, Yue-Qi
Hao, Xiao-Yan
Yuan, Xiang-Zhen
Zhang, Shu-Yun
author_facet Zhang, Hui
Fan, Kai-Li
Zhang, Yue-Qi
Hao, Xiao-Yan
Yuan, Xiang-Zhen
Zhang, Shu-Yun
author_sort Zhang, Hui
collection PubMed
description This report presents a case of pontine autosomal dominant microangiopathy with leukoencephalopathy (PADMAL) in a 35 year-old male patient. The patient exhibited a consistent history of recurrent ischemic strokes, concentrated primarily in the pons region, accompanied by concurrent manifestations of leukoencephalopathy and microbleeds. Genetic evaluation revealed a heterozygous missense mutation consistent with c.3431C>G, p. Thr1144Arg substitution within exon 40 of the COL4A1 gene. This mutation was also identified in the patient’s mother, affirming an autosomal dominant inheritance model. Our findings serve as testament to the potential role of mutation in the exon 40 of COL4A1 in the pathogenesis and progression of PADMAL, contributing to ongoing efforts aimed at better understanding the genetic basis of this debilitating disorder.
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spelling pubmed-105649872023-10-12 Case report: Recurrent pontine stroke and leukoencephalopathy in a patient with de novo mutation in COL4A1 Zhang, Hui Fan, Kai-Li Zhang, Yue-Qi Hao, Xiao-Yan Yuan, Xiang-Zhen Zhang, Shu-Yun Front Neurol Neurology This report presents a case of pontine autosomal dominant microangiopathy with leukoencephalopathy (PADMAL) in a 35 year-old male patient. The patient exhibited a consistent history of recurrent ischemic strokes, concentrated primarily in the pons region, accompanied by concurrent manifestations of leukoencephalopathy and microbleeds. Genetic evaluation revealed a heterozygous missense mutation consistent with c.3431C>G, p. Thr1144Arg substitution within exon 40 of the COL4A1 gene. This mutation was also identified in the patient’s mother, affirming an autosomal dominant inheritance model. Our findings serve as testament to the potential role of mutation in the exon 40 of COL4A1 in the pathogenesis and progression of PADMAL, contributing to ongoing efforts aimed at better understanding the genetic basis of this debilitating disorder. Frontiers Media S.A. 2023-09-27 /pmc/articles/PMC10564987/ /pubmed/37830085 http://dx.doi.org/10.3389/fneur.2023.1237847 Text en Copyright © 2023 Zhang, Fan, Zhang, Hao, Yuan and Zhang. 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
Zhang, Hui
Fan, Kai-Li
Zhang, Yue-Qi
Hao, Xiao-Yan
Yuan, Xiang-Zhen
Zhang, Shu-Yun
Case report: Recurrent pontine stroke and leukoencephalopathy in a patient with de novo mutation in COL4A1
title Case report: Recurrent pontine stroke and leukoencephalopathy in a patient with de novo mutation in COL4A1
title_full Case report: Recurrent pontine stroke and leukoencephalopathy in a patient with de novo mutation in COL4A1
title_fullStr Case report: Recurrent pontine stroke and leukoencephalopathy in a patient with de novo mutation in COL4A1
title_full_unstemmed Case report: Recurrent pontine stroke and leukoencephalopathy in a patient with de novo mutation in COL4A1
title_short Case report: Recurrent pontine stroke and leukoencephalopathy in a patient with de novo mutation in COL4A1
title_sort case report: recurrent pontine stroke and leukoencephalopathy in a patient with de novo mutation in col4a1
topic Neurology
url https://www.ncbi.nlm.nih.gov/pmc/articles/PMC10564987/
https://www.ncbi.nlm.nih.gov/pubmed/37830085
http://dx.doi.org/10.3389/fneur.2023.1237847
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