Heterogenous PLP1 Mutations Express Differing Pathology Of The Corpus Callosum in Pelizaeus-Merzbacher Disease.
Malek I Makki 1 and Jeremy J Laukka 2
MRI Research, University Children Hospital
of Zurich, Zurich, Switzerland,
and Neurology, University of Toledo, Toledo, OH, United
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
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