{"title":"Updates on neurologic manifestations of mitochondrial disease.","authors":"Britta Kuusik, Divakar S Mithal","doi":"10.1097/MOP.0000000000001418","DOIUrl":null,"url":null,"abstract":"<p><strong>Purpose of review: </strong>Primary mitochondrial disease (PMD) is diverse both genetically and phenotypically. Neurologic manifestations are present at a high rate and often pose complications for providers. The review will discuss common manifestations and how advances in genetic testing have broadened understanding of PMDs.</p><p><strong>Recent findings: </strong>Across all areas of PMD research, genetic advancements are notable both for mitochondrial and nuclear DNA.</p><p><strong>Summary: </strong>Global understanding of PMDs is driving deeper and broader research. Neurologic manifestations primarily include neuromuscular disease, epilepsy, stroke-like episodes and neurodegeneration, and advances in all areas have benefitted from global reporting of genetic studies.</p>","PeriodicalId":10985,"journal":{"name":"Current opinion in pediatrics","volume":"37 1","pages":"107-111"},"PeriodicalIF":2.2000,"publicationDate":"2025-02-01","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":"0","resultStr":null,"platform":"Semanticscholar","paperid":null,"PeriodicalName":"Current opinion in pediatrics","FirstCategoryId":"3","ListUrlMain":"https://doi.org/10.1097/MOP.0000000000001418","RegionNum":3,"RegionCategory":"医学","ArticlePicture":[],"TitleCN":null,"AbstractTextCN":null,"PMCID":null,"EPubDate":"2024/12/6 0:00:00","PubModel":"Epub","JCR":"Q2","JCRName":"PEDIATRICS","Score":null,"Total":0}
引用次数: 0
Abstract
Purpose of review: Primary mitochondrial disease (PMD) is diverse both genetically and phenotypically. Neurologic manifestations are present at a high rate and often pose complications for providers. The review will discuss common manifestations and how advances in genetic testing have broadened understanding of PMDs.
Recent findings: Across all areas of PMD research, genetic advancements are notable both for mitochondrial and nuclear DNA.
Summary: Global understanding of PMDs is driving deeper and broader research. Neurologic manifestations primarily include neuromuscular disease, epilepsy, stroke-like episodes and neurodegeneration, and advances in all areas have benefitted from global reporting of genetic studies.
期刊介绍：
Current Opinion in Pediatrics is a reader-friendly resource which allows the reader to keep up-to-date with the most important advances in the pediatric field. Each issue of Current Opinion in Pediatrics contains three main sections delivering a diverse and comprehensive cover of all key issues related to pediatrics; including genetics, therapeutics and toxicology, adolescent medicine, neonatology and perinatology, and orthopedics. Unique to Current Opinion in Pediatrics is the office pediatrics section which appears in every issue and covers popular topics such as fever, immunization and ADHD. Current Opinion in Pediatrics is an indispensable journal for the busy clinician, researcher or student.
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