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MeSH Review

Pelizaeus-Merzbacher Disease

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Disease relevance of Pelizaeus-Merzbacher Disease


High impact information on Pelizaeus-Merzbacher Disease


Chemical compound and disease context of Pelizaeus-Merzbacher Disease


Biological context of Pelizaeus-Merzbacher Disease


Anatomical context of Pelizaeus-Merzbacher Disease


Gene context of Pelizaeus-Merzbacher Disease


Analytical, diagnostic and therapeutic context of Pelizaeus-Merzbacher Disease


  1. X-linked spastic paraplegia and Pelizaeus-Merzbacher disease are allelic disorders at the proteolipid protein locus. Saugier-Veber, P., Munnich, A., Bonneau, D., Rozet, J.M., Le Merrer, M., Gil, R., Boespflug-Tanguy, O. Nat. Genet. (1994) [Pubmed]
  2. Schwann cell expression of PLP1 but not DM20 is necessary to prevent neuropathy. Shy, M.E., Hobson, G., Jain, M., Boespflug-Tanguy, O., Garbern, J., Sperle, K., Li, W., Gow, A., Rodriguez, D., Bertini, E., Mancias, P., Krajewski, K., Lewis, R., Kamholz, J. Ann. Neurol. (2003) [Pubmed]
  3. Adult-onset neurodegenerative disorder due to proteolipid protein gene mutation in the mother of a man with Pelizaeus-Merzbacher disease. Nance, M.A., Boyadjiev, S., Pratt, V.M., Taylor, S., Hodes, M.E., Dlouhy, S.R. Neurology (1996) [Pubmed]
  4. A new X linked recessive deafness syndrome with blindness, dystonia, fractures, and mental deficiency is linked to Xq22. Tranebjaerg, L., Schwartz, C., Eriksen, H., Andreasson, S., Ponjavic, V., Dahl, A., Stevenson, R.E., May, M., Arena, F., Barker, D. J. Med. Genet. (1995) [Pubmed]
  5. Epileptic seizures and electroencephalographic evolution in genetic leukodystrophies. Wang, P.J., Hwu, W.L., Shen, Y.Z. Journal of clinical neurophysiology : official publication of the American Electroencephalographic Society. (2001) [Pubmed]
  6. A cellular mechanism governing the severity of Pelizaeus-Merzbacher disease. Gow, A., Lazzarini, R.A. Nat. Genet. (1996) [Pubmed]
  7. Uncoupling of hypomyelination and glial cell death by a mutation in the proteolipid protein gene. Schneider, A., Montague, P., Griffiths, I., Fanarraga, M., Kennedy, P., Brophy, P., Nave, K.A. Nature (1992) [Pubmed]
  8. The structural gene coding for myelin-associated proteolipid protein is mutated in jimpy mice. Dautigny, A., Mattei, M.G., Morello, D., Alliel, P.M., Pham-Dinh, D., Amar, L., Arnaud, D., Simon, D., Mattei, J.F., Guenet, J.L. Nature (1986) [Pubmed]
  9. Overexpression of the myelin proteolipid protein leads to accumulation of cholesterol and proteolipid protein in endosomes/lysosomes: implications for Pelizaeus-Merzbacher disease. Simons, M., Kramer, E.M., Macchi, P., Rathke-Hartlieb, S., Trotter, J., Nave, K.A., Schulz, J.B. J. Cell Biol. (2002) [Pubmed]
  10. Pelizaeus-Merzbacher disease: detection of mutations Thr181----Pro and Leu223----Pro in the proteolipid protein gene, and prenatal diagnosis. Strautnieks, S., Rutland, P., Winter, R.M., Baraitser, M., Malcolm, S. Am. J. Hum. Genet. (1992) [Pubmed]
  11. Brain N-acetylaspartate is elevated in Pelizaeus-Merzbacher disease with PLP1 duplication. Takanashi, J., Inoue, K., Tomita, M., Kurihara, A., Morita, F., Ikehira, H., Tanada, S., Yoshitome, E., Kohno, Y. Neurology (2002) [Pubmed]
  12. Postnatal sudanophilic leukodystrophy in two siblings. Yokoi, S., Amano, N., Hanawa, H., Isoyama, K., Ishikawa, A., Ogino, T. Acta Neuropathol. (1985) [Pubmed]
  13. Heterogeneous duplications in patients with Pelizaeus-Merzbacher disease suggest a mechanism of coupled homologous and nonhomologous recombination. Woodward, K.J., Cundall, M., Sperle, K., Sistermans, E.A., Ross, M., Howell, G., Gribble, S.M., Burford, D.C., Carter, N.P., Hobson, D.L., Garbern, J.Y., Kamholz, J., Heng, H., Hodes, M.E., Malcolm, S., Hobson, G.M. Am. J. Hum. Genet. (2005) [Pubmed]
  14. Genetic diagnosis of PLP gene duplications/deletions in patients with Pelizaeus-Merzbacher disease. Gao, Q., Thurston, V.C., Vance, G.H., Dlouhy, S.R., Hodes, M.E. Clin. Genet. (2005) [Pubmed]
  15. Novel nonsense proteolipid protein gene mutation as a cause of X-linked spastic paraplegia in twin males. Osaka, H., Kawanishi, C., Inoue, K., Uesugi, H., Hiroshi, K., Nishiyama, K., Yamada, Y., Suzuki, K., Kimura, S., Kosaka, K. Biochem. Biophys. Res. Commun. (1995) [Pubmed]
  16. Synthesis and secondary structure of loop 4 of myelin proteolipid protein: effect of a point mutation found in Pelizaeus-Merzbacher disease. Trifilieff, E. J. Pept. Res. (2005) [Pubmed]
  17. Complex chromosomal rearrangement and associated counseling issues in a family with Pelizaeus-Merzbacher disease. Woodward, K., Cundall, M., Palmer, R., Surtees, R., Winter, R.M., Malcolm, S. Am. J. Med. Genet. A (2003) [Pubmed]
  18. A missense mutation in the proteolipid protein gene responsible for Pelizaeus-Merzbacher disease in a Japanese family. Iwaki, A., Muramoto, T., Iwaki, I., Furumi, H., Dario-deLeon, M.L., Tateishi, J., Fukumaki, Y. Hum. Mol. Genet. (1993) [Pubmed]
  19. Overexpression of DM20 messenger RNA in two brothers with Pelizaeus-Merzbacher disease. Carango, P., Funanage, V.L., Quirós, R.E., Debruyn, C.S., Marks, H.G. Ann. Neurol. (1995) [Pubmed]
  20. Monoclonal antibody O10 defines a conformationally sensitive cell-surface epitope of proteolipid protein (PLP): evidence that PLP misfolding underlies dysmyelination in mutant mice. Jung, M., Sommer, I., Schachner, M., Nave, K.A. J. Neurosci. (1996) [Pubmed]
  21. Dysmyelinating and demyelinating conditions in infancy. Kolodny, E.H. Current opinion in neurology and neurosurgery. (1993) [Pubmed]
  22. Genomic rearrangements resulting in PLP1 deletion occur by nonhomologous end joining and cause different dysmyelinating phenotypes in males and females. Inoue, K., Osaka, H., Thurston, V.C., Clarke, J.T., Yoneyama, A., Rosenbarker, L., Bird, T.D., Hodes, M.E., Shaffer, L.G., Lupski, J.R. Am. J. Hum. Genet. (2002) [Pubmed]
  23. Murine leukodystrophies as tools to study myelinogenesis in normal and pathological conditions. Matthieu, J.M., Omlin, F.X. Neuropediatrics. (1984) [Pubmed]
  24. Homozygote for mutation c.1204 + 1G > A of the ARSA gene presents with a late-infantile form of metachromatic leukodystrophy and a rare MRI white matter lesion type. Ługowska, A., Szymańska, K., Kmiec, T., Tarczyńska, I., Czartoryska, B., Tylki-Szymańska, A., Jurkiewicz, E. J. Appl. Genet. (2005) [Pubmed]
  25. A novel mutation (A246T) in exon 6 of the proteolipid protein gene associated with connatal Pelizaeus-Merzbacher disease. Yamamoto, T., Nanba, E. Hum. Mutat. (1999) [Pubmed]
  26. Proteolipid protein gene: Pelizaeus-Merzbacher disease in humans and neurodegeneration in mice. Woodward, K., Malcolm, S. Trends Genet. (1999) [Pubmed]
  27. A duplicated PLP gene causing Pelizaeus-Merzbacher disease detected by comparative multiplex PCR. Inoue, K., Osaka, H., Sugiyama, N., Kawanishi, C., Onishi, H., Nezu, A., Kimura, K., Yamada, Y., Kosaka, K. Am. J. Hum. Genet. (1996) [Pubmed]
  28. Multiple congenital anomalies, brain hypomyelination, and ocular albinism in a female with dup(X) (pter-->q24::q21.32-->qter) and random X inactivation. Carrozzo, R., Arrigo, G., Rossi, E., Bardoni, B., Cammarata, M., Gandullia, P., Gatti, R., Zuffardi, O. Am. J. Med. Genet. (1997) [Pubmed]
  29. Prenatal diagnosis of PLP1 copy number by array comparative genomic hybridization. Lee, J.A., Cheung, S.W., Ward, P.A., Inoue, K., Lupski, J.R. Prenat. Diagn. (2005) [Pubmed]
  30. Comparative immunocytochemistry of Pelizaeus-Merzbacher disease, the jimpy mouse, and the myelin-deficient rat. Koeppen, A.H., Barron, K.D., Csiza, C.K., Greenfield, E.A. J. Neurol. Sci. (1988) [Pubmed]
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