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


Boltshauser, Eugen; Schinzel, Albert; Wichmann, Werner; Haller, Dieter; Valavanis, Anton (1988). Pelizaeus-Merzbacher disease: identification of heterozygotes with magnetic resonance imaging? Human Genetics, 80(4):393-394.

Abstract

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.

Abstract

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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Additional indexing

Item Type:Journal Article, refereed, original work
Communities & Collections:04 Faculty of Medicine > University Children's Hospital Zurich > Medical Clinic
04 Faculty of Medicine > Institute of Medical Genetics
04 Faculty of Medicine > University Hospital Zurich > Clinic for Neuroradiology
Dewey Decimal Classification:610 Medicine & health
570 Life sciences; biology
Scopus Subject Areas:Life Sciences > Genetics
Health Sciences > Genetics (clinical)
Uncontrolled Keywords:Genetics (clinical), Genetics, Magnetic Resonance Imaging, Internal Medicine, White Matter, Metabolic Disease, Subcortical White Matter
Language:English
Date:1 December 1988
Deposited On:25 Oct 2023 08:56
Last Modified:30 Mar 2024 04:48
Publisher:Springer
ISSN:0340-6717
OA Status:Closed
Publisher DOI:https://doi.org/10.1007/bf00273659
PubMed ID:3198119
Other Identification Number:Corpus ID: 27097620