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MeSH Review

Diffuse Cerebral Sclerosis of Schilder

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Disease relevance of Diffuse Cerebral Sclerosis of Schilder


High impact information on Diffuse Cerebral Sclerosis of Schilder

  • In two unrelated pedigrees of Alpers' syndrome, each affected child was found to carry a homozygous mutation in exon 17 of the POLG locus that led to a Glu873Stop mutation just upstream of the polymerase domain of the protein [6].
  • Computed tomograms (CT) demonstrated symmetrical low-density lesions in the white matter of the posterior portion of the cerebral hemispheres in a 9-year-old boy with adrenoleukodystrophy (Schilder's disease) [7].
  • The findings, taken together with those of previously reported cases, suggest that Baló's concentric sclerosis is a variant of MS, and the concentric lesion may be an intermediary form in evolution of a chronic active MS plaque [8].
  • We report 2 siblings with Alpers disease who were discordant for exposure to valproate (VPA) [5].
  • We will present 8 children with progressive infantile or juvenile poliodystrophy (Alpers' disease), associated with a defect in pyruvate metabolism [9].

Chemical compound and disease context of Diffuse Cerebral Sclerosis of Schilder


Biological context of Diffuse Cerebral Sclerosis of Schilder


Gene context of Diffuse Cerebral Sclerosis of Schilder


  1. Functional defects due to spacer-region mutations of human mitochondrial DNA polymerase in a family with an ataxia-myopathy syndrome. Luoma, P.T., Luo, N., Löscher, W.N., Farr, C.L., Horvath, R., Wanschitz, J., Kiechl, S., Kaguni, L.S., Suomalainen, A. Hum. Mol. Genet. (2005) [Pubmed]
  2. The common A467T mutation in the human mitochondrial DNA polymerase (POLG) compromises catalytic efficiency and interaction with the accessory subunit. Chan, S.S., Longley, M.J., Copeland, W.C. J. Biol. Chem. (2005) [Pubmed]
  3. Metabolic and destructive brain disorders in children: findings with localized proton MR spectroscopy. Grodd, W., Krägeloh-Mann, I., Klose, U., Sauter, R. Radiology. (1991) [Pubmed]
  4. Schilder's myelinoclastic diffuse sclerosis. Poser, C.M., Goutières, F., Carpentier, M.A., Aicardi, J. Pediatrics (1986) [Pubmed]
  5. Valproate-induced liver failure in one of two siblings with Alpers disease. Schwabe, M.J., Dobyns, W.B., Burke, B., Armstrong, D.L. Pediatric neurology. (1997) [Pubmed]
  6. POLG mutations associated with Alpers' syndrome and mitochondrial DNA depletion. Naviaux, R.K., Nguyen, K.V. Ann. Neurol. (2004) [Pubmed]
  7. Computed tomography in adrenoleukodystrophy. Correlation of radiological and histological findings. Duda, E.E., Huttenlocher, P.R. Radiology. (1976) [Pubmed]
  8. Baló's concentric sclerosis: surviving normal myelin in a patient with a relapsing-remitting dinical course. Moore, G.R., Berry, K., Oger, J.J., Prout, A.J., Graeb, D.A., Nugent, R.A. Mult. Scler. (2001) [Pubmed]
  9. Defects in citric acid cycle and the electron transport chain in progressive poliodystrophy. Gabreëls, F.J., Prick, M.J., Trijbels, J.M., Renier, W.O., Jaspar, H.H., Janssen, A.J., Slooff, J.L. Acta neurologica Scandinavica. (1984) [Pubmed]
  10. Progressive infantile poliodystrophy (Alpers' disease) with a defect in citric acid cycle activity in liver and fibroblasts. Prick, M.J., Gabreëls, F.J., Renier, W.O., Trijbels, J.M., Willems, J.L., Janssen, A.J., Slooff, J.L., Geelen, J.A., de Jager, J.P. Neuropediatrics. (1982) [Pubmed]
  11. Letter: Schilder's disease: cholesterol metabolism in cultured fibroblasts. Benson, P.F., Fensom, A.H., Wilson, J. Arch. Dis. Child. (1976) [Pubmed]
  12. Mono-allelic POLG expression resulting from nonsense-mediated decay and alternative splicing in a patient with Alpers syndrome. Chan, S.S., Longley, M.J., Naviaux, R.K., Copeland, W.C. DNA Repair (Amst.) (2005) [Pubmed]
  13. POLG mutations and Alpers syndrome. Davidzon, G., Mancuso, M., Ferraris, S., Quinzii, C., Hirano, M., Peters, H.L., Kirby, D., Thorburn, D.R., DiMauro, S. Ann. Neurol. (2005) [Pubmed]
  14. Juvenile Alpers disease. Wiltshire, E., Davidzon, G., DiMauro, S., Akman, H.O., Sadleir, L., Haas, L., Zuccollo, J., McEwen, A., Thorburn, D.R. Arch. Neurol. (2008) [Pubmed]
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