Updates on neurologic manifestations of mitochondrial disease

Britta Kuusik, Divakar S. Mithal

Research output: Contribution to journalReview articlepeer-review

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.

Original languageEnglish (US)
Pages (from-to)107-111
Number of pages5
JournalCurrent opinion in pediatrics
Volume37
Issue number1
DOIs
StatePublished - Feb 1 2025

ASJC Scopus subject areas

  • Pediatrics, Perinatology, and Child Health

Fingerprint

Dive into the research topics of 'Updates on neurologic manifestations of mitochondrial disease'. Together they form a unique fingerprint.

Cite this