Updates on neurologic manifestations of mitochondrial disease.

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.