Jeremy J. Laukka1,2, Malek I. Makki3, James Y. Garbern1,4
1Neurology, Wayne State University, Detroit, Mi, USA; 2Radiology, Michigan State University, East Lansing, Mi, USA; 3Radiology, Wayne State University, Detroit, Mi, USA; 4Molecular Medicine and Genetics, Wayne State University, Detroit, Mi, USA
Twelve Pelizaeus-Merzbacher disease (PMD) patients with a range of PLP1 mutations were analyzed by DT-MRI. The radial (radial) and parallel (//) diffusivities, apparent diffusion constant (ADC) and fractional anisotropy (FA) were measured through several white matter tracts, including the corpus callosum and corticospinal tract. The most dramatic difference between PMD patients and controls was increased radial, most marked in the corpus callosum. Interestingly, // was also increased in the severely affected PMD patients, whereas in severely dysmyelinated rodents, the radial is reported to be normal to decreased. // in patients with PLP1 null mutations was relatively unaffected relative to controls.