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MeSH Review

Insomnia, Fatal Familial

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Disease relevance of Insomnia, Fatal Familial


Psychiatry related information on Insomnia, Fatal Familial


High impact information on Insomnia, Fatal Familial

  • To our knowledge, this is the first null mutation that has been shown to affect sleep regulation and our results indicate that at least one of the inherited prion diseases, fatal familial insomnia, where there is a profound alteration in sleep and the daily rhythms of many hormones, may be related to the normal function of the prion protein [7].
  • As a group, familial cases had lower amyloid protein concentrations than either sporadic or iatrogenic cases, and fatal familial insomnia patients had the lowest concentrations found in any form of disease [8].
  • Protease-resistant prion protein, total prion protein, and glial fibrillary acidic protein were measured in various brain regions from 9 subjects with fatal familial insomnia [9].
  • In 1986, a heritable total insomnia was described and termed fatal familial insomnia; since then, the pathology of this disease has been shown to involve an accumulation of prion particles in the brains of affected patients [10].
  • [18F]FDG PET in fatal familial insomnia: the functional effects of thalamic lesions [11].

Chemical compound and disease context of Insomnia, Fatal Familial


Biological context of Insomnia, Fatal Familial


Gene context of Insomnia, Fatal Familial


Analytical, diagnostic and therapeutic context of Insomnia, Fatal Familial


  1. Truncated forms of the human prion protein in normal brain and in prion diseases. Chen, S.G., Teplow, D.B., Parchi, P., Teller, J.K., Gambetti, P., Autilio-Gambetti, L. J. Biol. Chem. (1995) [Pubmed]
  2. Prion encephalopathies of animals and humans. Prusiner, S.B. Dev. Biol. Stand. (1993) [Pubmed]
  3. Prion disease: a deadly disease for protein misfolding. Chakraborty, C., Nandi, S., Jana, S. Current pharmaceutical biotechnology. (2005) [Pubmed]
  4. Neurodegeneration in humans caused by prions. Prusiner, S.B. West. J. Med. (1994) [Pubmed]
  5. Fatal familial insomnia, a prion disease with a mutation at codon 178 of the prion protein gene. Medori, R., Tritschler, H.J., LeBlanc, A., Villare, F., Manetto, V., Chen, H.Y., Xue, R., Leal, S., Montagna, P., Cortelli, P. N. Engl. J. Med. (1992) [Pubmed]
  6. Analysis of the prion protein gene in thalamic dementia. Petersen, R.B., Tabaton, M., Berg, L., Schrank, B., Torack, R.M., Leal, S., Julien, J., Vital, C., Deleplanque, B., Pendlebury, W.W. Neurology (1992) [Pubmed]
  7. Altered circadian activity rhythms and sleep in mice devoid of prion protein. Tobler, I., Gaus, S.E., Deboer, T., Achermann, P., Fischer, M., Rülicke, T., Moser, M., Oesch, B., McBride, P.A., Manson, J.C. Nature (1996) [Pubmed]
  8. Intracerebral distribution of infectious amyloid protein in spongiform encephalopathy. Brown, P., Kenney, K., Little, B., Ironside, J., Will, R., Cervenáková, L., Bjork, R.J., San Martin, R.A., Safar, J., Roos, R. Ann. Neurol. (1995) [Pubmed]
  9. Regional distribution of protease-resistant prion protein in fatal familial insomnia. Parchi, P., Castellani, R., Cortelli, P., Montagna, P., Chen, S.G., Petersen, R.B., Manetto, V., Vnencak-Jones, C.L., McLean, M.J., Sheller, J.R. Ann. Neurol. (1995) [Pubmed]
  10. Sleep, genes and death: fatal familial insomnia. Fiorino, A.S. Brain Res. Brain Res. Rev. (1996) [Pubmed]
  11. [18F]FDG PET in fatal familial insomnia: the functional effects of thalamic lesions. Perani, D., Cortelli, P., Lucignani, G., Montagna, P., Tinuper, P., Gallassi, R., Gambetti, P., Lenzi, G.L., Lugaresi, E., Fazio, F. Neurology (1993) [Pubmed]
  12. Fatal insomnia in a case of familial Creutzfeldt-Jakob disease with the codon 200(Lys) mutation. Chapman, J., Arlazoroff, A., Goldfarb, L.G., Cervenakova, L., Neufeld, M.Y., Werber, E., Herbert, M., Brown, P., Gajdusek, D.C., Korczyn, A.D. Neurology (1996) [Pubmed]
  13. Combined quinacrine and chlorpromazine therapy in fatal familial insomnia. Benito-León, J. Clinical neuropharmacology. (2004) [Pubmed]
  14. Inherited prion disease caused by the V210I mutation: transmission to transgenic mice. Mastrianni, J.A., Capellari, S., Telling, G.C., Han, D., Bosque, P., Prusiner, S.B., DeArmond, S.J. Neurology (2001) [Pubmed]
  15. Influence of amino acid substitutions related to inherited human prion diseases on the thermodynamic stability of the cellular prion protein. Liemann, S., Glockshuber, R. Biochemistry (1999) [Pubmed]
  16. Dissociated 24-hour patterns of somatotropin and prolactin in fatal familial insomnia. Portaluppi, F., Cortelli, P., Avoni, P., Vergnani, L., Maltoni, P., Pavani, A., Sforza, E., Manfredini, R., Montagna, P., Roiter, I. Neuroendocrinology (1995) [Pubmed]
  17. Cardiovascular dysautonomia in fatal familial insomnia. Cortelli, P., Parchi, P., Contin, M., Pierangeli, G., Avoni, P., Tinuper, P., Montagna, P., Baruzzi, A., Gambetti, P.L., Lugaresi, E. Clin. Auton. Res. (1991) [Pubmed]
  18. The human prion diseases. A review with special emphasis on new variant CJD and comments on surveillance. Keohane, C. Clinical and experimental pathology. (1999) [Pubmed]
  19. Does the prion protein gene 129 codon polymorphism influence sleep? Evidence from a fatal familial insomnia kindred. Plazzi, G., Montagna, P., Beelke, M., Nobili, L., De Carli, F., Cortelli, P., Vandi, S., Avoni, P., Tinuper, P., Gambetti, P., Lugaresi, E., Ferrillo, F. Clinical neurophysiology : official journal of the International Federation of Clinical Neurophysiology. (2002) [Pubmed]
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