Publication: Pelizaeus-Merzbacher disease: identification of heterozygotes with magnetic resonance imaging?
Pelizaeus-Merzbacher disease: identification of heterozygotes with magnetic resonance imaging?
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Boltshauser, E., Schinzel, A., Wichmann, W., Haller, D., & Valavanis, A. (1988). Pelizaeus-Merzbacher disease: identification of heterozygotes with magnetic resonance imaging? Human Genetics, 80(4), 393–394. https://doi.org/10.1007/bf00273659
Abstract
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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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- Boltshauser, Eugen
- Schinzel, Albert
- Wichmann, Werner
- Haller, Dieter
- Valavanis, Anton
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Citations
Boltshauser, E., Schinzel, A., Wichmann, W., Haller, D., & Valavanis, A. (1988). Pelizaeus-Merzbacher disease: identification of heterozygotes with magnetic resonance imaging? Human Genetics, 80(4), 393–394. https://doi.org/10.1007/bf00273659
