Assessing The Level Of Pathology Of The Corticospinal Pathway In Patients With PLP1 Mutations Using Diffusion Tensor Imaging.

Pelizaeus-Merzbacher disease (PMD) is an X-linked disorder of the central nervous system, caused by mutations affecting proteolipid protein 1 (PLP1) the major protein in myelin. Twelve PMD patients were examined with DTI. Mutation was characterized as null mutation (N=3), moderate (N=5) and severe (N=4). We selected three levels along the cortico-spinal tract: posterior-limb of the internal capsule, pons and cerebral peduncle. In the pons we observed significantly higher radial diffusion both in severe compared to null (p=0.002) and in severe compared to moderate mutation (p=0.015). We observed higher axial diffusion in the posterior-limb in severe compared to null mutation (p=0.008).

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