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Pelizaeus-Merzbacher disease: identification of heterozygotes with magnetic resonance imaging?


We report magnetic resonance imaging (MRI) findings in two obligate and four facultative carriers for the “classical” X-linked from of Pelizaeus-Merzbacher disease (PMD). In T2-weigthed images MR revealed bilateral multiple areas with signal hyperintensity in the periventricular and subcortical white matter in five women. Until suitable and closely linked DNA probes are found for heterozygote determination, MRI may represent a suitable means for carrier detection in individuals at risk in PMD families.

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Correspondence to Eugen Boltshauser.

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Boltshauser, E., Schinzel, A., Wichmann, W. et al. Pelizaeus-Merzbacher disease: identification of heterozygotes with magnetic resonance imaging?. Hum Genet 80, 393–394 (1988).

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  • Magnetic Resonance Imaging
  • Internal Medicine
  • White Matter
  • Metabolic Disease
  • Subcortical White Matter