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PLP1 mutations in several patients (MRI)

Arrows in all slices point to a representative area of white matter. Top row: left slice is from normal adult male. Middle slice is from 22-year-old male with connatal disease. Note severe cerebral atrophy as well as signal hyperintensity in the white matter. Right slice is from 10-year-old male with PLP1 duplication and classical Pelizaeus-Merzbacher disease. Lower row: left slice is from 17-year-old male with PLP1-null syndrome. Middle slice is from a 45-year-old male with pure spastic paraplegia due to a missense mutation in PLP1. Right slice is from a 10-year-old boy with complicated spastic paraplegia due to a 19 base deletion in intron 3. Note the subtle diffuse increase in white matter signal intensity in the PLP1-null and SPG2 patients. (Contributed by Dr. James Garbern.)