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Progressive White Matter Changes in Mitochondrial Disease: A Quantitative MRI Study.

Nora Mickelsson^1,2, Jussi Hirvonen^3,4, Mika H Martikainen^1,2,5,6

¹Clinical Neurosciences, Department of Clinical Medicine University of Turku Turku Finland.

|May 11, 2026

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Mitochondrial diseases cause progressive white matter changes in the brain, particularly in women and those with the m.3243A>G variant. Quantitative MRI is crucial for monitoring this white matter vulnerability.

Area of Science:

Neurology
Neuroimaging
Mitochondrial Diseases

Background:

Primary mitochondrial diseases often impact the central nervous system.
White matter hyperintensities (WMHs) in mitochondrial disorders are not well understood, especially regarding quantitative progression.
Mitochondrial disorders may cause white matter injury via unique vascular and metabolic pathways, distinct from small-vessel disease.

Purpose of the Study:

To characterize the extent, distribution, and longitudinal progression of white matter hyperintensities (WMHs) in patients with primary mitochondrial diseases.
To quantitatively assess WMH volumes and lesion progression using advanced neuroimaging analysis.
To explore potential differences in WMH burden based on sex, specific mitochondrial DNA variants (m.3243A>G), and clinical history.

Main Methods:

Keywords:

disease progression longitudinal imaging mitochondrial disease quantitative MRI small‐vessel pathology white matter hyperintensities

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Retrospective single-centre study of 36 patients with mitochondrial disease, including 15 with longitudinal MRI data.
Analysis of 3D T1-weighted and FLAIR brain MRI scans (1.5/3T) using the cNeuro tool for automated WMH and lesion volumetrics and Fazekas scoring.
Intracranial volume normalization was applied to WMH and lesion volumes.

Main Results:

WMHs were prevalent across all supratentorial regions at baseline in patients with mitochondrial disease.
Significant increases in WMH volumes were observed over time in periventricular, deep, and juxtacortical areas.
Patients with the m.3243A>G variant and women showed a greater WMH and lesion burden compared to others.

Conclusions:

Mitochondrial disease is linked to early and progressive accumulation of white matter hyperintensities.
The m.3243A>G variant is associated with a more significant WMH burden, suggesting a disease-specific vulnerability.
Quantitative MRI is essential for monitoring white matter changes and disease progression in mitochondrial disorders.