Heterogenous PLP1 Mutations Express Differing Pathology Of The Corpus Callosum in Pelizaeus-Merzbacher Disease.

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

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