title: Pelizaeus-Merzbacher disease: identification of heterozygotes with magnetic resonance imaging?
abstract: We report magnetic resonance imaging (MRI) findings in two obligate and four facultative carriers for the "classical" X-linked form of Pelizaeus-Merzbacher disease (PMD). In T2-weighted 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.
authors.affiliation: Kinderspital, Universitäts-Kinderklinik, Zürich, Switzerland.
authors.forename: E
authors.initials: E
authors.lastname: Boltshauser
authors.forename: A
authors.initials: A
authors.lastname: Schinzel
authors.forename: W
authors.initials: W
authors.lastname: Wichmann
authors.forename: D
authors.initials: D
authors.lastname: Haller
authors.forename: A
authors.initials: A
authors.lastname: Valavanis
mesh_terms: D001921:Brain / Q000473:pathology*; D002549:Diffuse Cerebral Sclerosis of Schilder / Q000175:diagnosis / Q000235:genetics*; D005260:Female; D006580:Genetic Carrier Screening / Q000379:methods*; D006801:Humans; D008279:Magnetic Resonance Imaging; D008297:Male; D010375:Pedigree