Overview of neuroimaging in primary mitochondrial disorders

Area of Science:

• Neurology
• Radiology
• Genetics

Background:

• Primary mitochondrial disorders (PMDs) are increasingly understood at clinical, biochemical, and genetic levels.
• These conditions often present with diverse phenotypes, particularly affecting the central nervous system (CNS).
• Advances necessitate updated neuroimaging approaches for accurate diagnosis.

Purpose of the Study:

• To provide a comprehensive overview of key neuroimaging features in common primary mitochondrial disorders.
• To highlight classical and emerging imaging findings linked to causative genes.
• To enhance radiologists' diagnostic capabilities for PMDs.

Main Methods:

• Review of current literature on neuroimaging in primary mitochondrial disorders.
• Analysis of clinicoradiologic presentations and associated mitochondrial defects.
• Correlation of imaging findings with genetic and biochemical data.

Main Results:

• Detailed description of characteristic neuroimaging findings across various PMDs.
• Identification of specific imaging patterns associated with known genetic mutations.
• Discussion of the complexity and heterogeneity of neuroimaging manifestations.

Conclusions:

• Neuroimaging plays a critical role in diagnosing primary mitochondrial disorders.
• Radiologists require specialized knowledge of PMD neuroimaging features for accurate diagnosis.
• This review serves as a guide to improve diagnostic accuracy in clinical practice.