Malek I. Makki1, Jeremy Laukka2, 3, James Garbern4
1MRI Research, University Children Hospital Zurich, Zurich, Switzerland; 2Radiology and Neurology, Michigan State University, East Lansing, Mi, United States; 3Neurology, Wayne State University, Detroit, Mi, United States; 4Molecular Medicine and Genetics, Wayne State University, Detroit, Mi, United States
DTI was performed on twelve patients with Pelizaeus-Merzbacher disease. These had different PLP1 mutation categories: null, moderate, and severe. Patients with moderate mutation exhibited the lowest radial diffusion and ADC and the highest FA in the splenium. This suggested hypomyelination and axonopathy. We also observed significant differences in radial diffusion and anisotropy between moderate and null mutations in the splenium showing that these patients have mild reduction in myelin with generally preserved axons.