Summary
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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References
Boltshauser E, Schinzel A, Wichmann W, Haller D, Valavanis A (1987) Pelizaeus-Merzbacher disease: identification of heterozygotes with magnetic resonance imaging? Helv Paediatr Acta 42: 337–339
Boulloche J, Aicardi J (1986) Pelizaeus-Merzbacher disease: clinical and nosological study. J Child Neurol 1:233–239
Diehl HJ, Schaich M, Budzinski RM, Stoffel W (1986) Individual exons encode the integral membrane domains of human myelin proteolipid protein. Proc Natl Acad Sci USA 83:9807–9811
Journel H, Roussey M, Gandon Y, Allaire C, Carsin M, Le Marec B (1987) Magnetic resonance imaging in Pelizaeus-Merzbacher disease. Neuroradiology 29:403–405
Koeppen AH, Ronca NA, Greenfield EA, Hans MB (1987) Defective biosynthesis of proteolipid protein in Pelizaeus-Merzbacher disease. Ann Neurol 21:159–170
Mattei MG, Alliel PM, Dautigny A, Passage E, Pham-Dinh D, Mattei JF, Jollès P (1986) The gene encoding for the major brain proteolipid (PLP) maps on the q-22 band of the human X-chromosome. Hum Genet 72:352–353
Penner MW, Li KC, Gebarski SS, Allen RJ (1987) MR imaging of Pelizaeus-Merzbacher disease. J Comput Assist Tomogr 11:591–593
Statz A, Boltshauser E, Schinzel A, Spiess H (1981) Computed tomography in Pelizaeus-Merzbacher disease. Neuroradiology 22:103–105
Stoffel W, Hillen H, Giersiefen H (1984) Structure and molecular arrangement of proteolipid protein of central nervous system myelin. Proc Natl Acad Sci USA 81:5012–5016
Stoffel W, Giersiefen H, Hillen H, Schroeder W, Tunggal B (1985) Amino-acid sequence of human and bovine brain myelin proteolipid protein (lipophilin) is completely conserved. Biol Chem Hoppe-Seyler 366:627–635
Willard HF, Riordan JR (1986) Assignment of the gene for myelin proteolipid protein to the X-chromosome: implications for X-linked myelin disorders. Science 230:940–942
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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). https://doi.org/10.1007/BF00273659
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DOI: https://doi.org/10.1007/BF00273659