Imaging Patterns Characterizing Mitochondrial Leukodystrophies

Achieving a specific diagnosis in leukodystrophies is often difficult due to clinical and genetic heterogeneity. Mitochondrial defects cause 5%-10% of leukodystrophies. Our objective was to define MR imaging features commonly shared by mitochondrial leukodystrophies and to distinguish MR imaging patterns related to specific genetic defects.One hundred thirty-two patients with a mitochondrial leukodystrophy with known genetic defects were...