The pathophysiology of fatal familial insomnia

Brain Pathology

Volumn 8, Issue 3, 1998, Pages 521-526

  Lugaresi, Elio ^a   Tobler, Irene ^b   Gambetti, Pierluigi ^c   Montagna, Pasquale ^a  

^a UNIVERSITY OF BOLOGNA   (Italy)

^b UNIVERSITY OF ZURICH   (Switzerland)

^c CASE WESTERN RESERVE UNIVERSITY SCHOOL OF MEDICINE   (United States)

Author keywords

[No Author keywords available]

Indexed keywords

ATTENTION DEFICIT DISORDER; AUTONOMIC DYSFUNCTION; CIRCADIAN RHYTHM; CLINICAL FEATURE; CONFERENCE PAPER; FATAL FAMILIAL INSOMNIA; HYPOTHALAMUS; LIMBIC SYSTEM; PATHOPHYSIOLOGY; SLEEP PATTERN; SLEEP WAKING CYCLE; THALAMUS NUCLEUS;

EID: 0031833026     PISSN: 10156305     EISSN: None     Source Type: Journal    
DOI: 10.1111/j.1750-3639.1998.tb00173.x     Document Type: Conference Paper

References (45)

1. Bassetti C, Mathis J, Gugger M. Lovblad KO, Hess CW (1996) Hypersomnia following paramedian thalamic stroke: a report of 12 patients. Ann Neural 39: 471-480.
2. Benarroch EE (1993) The central autonomic network: functional organization, dysfunction and perspective. Mayo Clin Proc 68: 988-1001.
3. Bessen RA, Marsh RF (1992) Identification of two biologically distinct strains of transmissible mink encephalopathy in hamsters. J Gen Virol 73: 329-334.
4. Bessen RA, Marsh RF (1994) Distinct PrP properties suggest the molecular basis of strain variation in transmissible mink encephalopathy. J Virol 68: 7859-7868.
5. Brown DR, Qin K, Herms JW, Madlung A, Manson J, Strome R, Fraser PE, Kruck T, von Bohlen A, SchulzSchaeffer W, Giese A, Westaway D, Kretzschmar H (1997) The cellular prion protein binds copper in vivo. Nature 390: 684
6. Büeler H, Fischer M, Lang Y, Bluethmann H, Lipp HP, DeArmond SJ, Prusiner SB, Aguet M, Weissmann C (1992) Normal development and behaviour of mice lacking the neuronal cell-surface PrP protein. Nature 356: 577-582
7. Chung CS, Caplan LR. Ban W, Pessin MS, Lee KH, Kim JM (1996) Thalamic haemorrhage. Brain 119:1873-1886.
8. Collinge J, Whittington MA, Sidle KCL, Smith CJ, Palmer MS, Clarke AR, Jefferys JGR (1994) Prion protein is necessary for normal synaptic function. Nature 370: 295-297
9. Colling SB, Collinge J, Jefferys JGR (1996) Hippocampal slices from prion protein null mice: disrupted Ca2+-activated K+ currents, Neurosci Letts 209: 49-52
10. Cortelli P, Perani D, Parchi P, Grassi F, Montagna P, De Martin M, Castellani R, Tinuper P, Gambetti P, Lugaresi E, and Fazio F (1997) Cerebral metabolism in fatal familial insomnia: Relation to duration, neuropathology, and distribution of protease-resistent prion protein. Neurology 49: 126-133.
11. Estibeiro JP (1996) Multiple roles for PrP in the prion diseases. TINS 19: 257-258
12. Fischer M, RülickeT, RaeberA, Sailer A, Moser M, Oesch B, Brandner S, Aguzzi A, Weissmann C (1996) Prion protein (PrP) with amino terminal deletions restoring susceptibility of PrP knockout mice to scrapie. EMBO J15:1255-1264
13. Gallassi R, Morreale MD, Montagna P, Cortelli P, Avoni P, Castellani R, Gambetti P, Lugaresi E (1996) Fatal familial insomnia: behavioral and cognitive features. Neurology 46: 935-939.
14. Guilleminault C, Quera-Salva M-A, Goldberg MP (1993) Pseudo-hypersomnia and pre-sleep behaviour with bilateral paramedian thalamic lesions. Brain 116: 1549-1563.
15. Hess WR (1944) Das Schlafsyndrom als Folge diencephaler Reizung. Helv Physiol Pharmacol Acta 2: 305344.
16. Hess WR (1954) The diencephalic sleep centre. In: Brain Mechanisms and Consciousness, pp. 117-125, Masson et Cie: Paris.
17. Horton HL, Levitt P (1988) A unique protein is expressed on early developmental limbic system axons and cortical targets. J Neurosci 8. 4653-4661.
18. Jouvet M (1972) The role of monoamines and acetylcholine-containing neurons in the regulation of the sleepwaking cycle. Ergeb Physiol 64: 166-307.
19. Krakauer DC (1996) Phylogenesis of prion protein. Nature 25: 675
20. Lugaresi E (1992) The Thalamus and Insomnia. Neurology 42. 28-33.
21. Lugaresi E, Montagna P, Cortelli P (1997) Fatal familial insomnia: a human model of impaired sleep-wake and other circadian rhythms. In: Sleep and Sleep Disorders: from Molecule to Behavior, Hayaishi O, Inoù S. (eds.), pp. 313-323, Academic Press Inc., Tokyo.
22. Mancia M, Marini G (1997) Thalamic mechanisms in sleep control. In: Sleep and Sleep Disorders: from Molecule to Behavior, Hayaishi O, Inoué S (eds.), pp. 313-323, Academic Press inc., Tokyo.
23. Manson JC. Clarke AR, Hooper ML, Aitchison L, McConnell I, Hope J (1994) 129/Ola mice carrying a null mutation in PrP that abolishes mRNA production are developmental normal. Molec Neurobiol 8:121-127
24. Manson JC, Hope J, Clarke AR, Johnston A, Black C, MacLeod N (1995) PrP Gene dosage and long term potentiation. Neurodegeneration 4: 113-115
25. Marini G, Imeri L, Mancia M (1988) Changes in sleepwaking cycle induced by lesions of medialis dorsahs thalamic nuclei in the cat. Neurosci: Lett 85: 223-227.
26. Martins VR, Graner E, Garcia-Abreu J, De Souza SJ, Mercadante AF, Veiga SS, Zanata SM, Moura Neto V and Brentani RR (1997) Complementary hydropathy identifies a cellular prion protein receptor. Nature Med 3: 13761382.
27. Montagna P, Cortelli P, Gambetti P, Lugaresi E (1995) Fatal familial insomnia. Sleep, neuroendocrine and vegetative alterations. Adv Neuroimmunol 5: 13-21
28. Moruzzi G (1972) The sleep-waking cycle. Ergeb Physiol 64: 1-165.
29. Nauta WJH (1946) Hypothalamic regulation of sleep in rats. An experimental study. J Neurophysiol 9: 285-314.
30. Nishida N, Katamine S, Shigematsu K, Nakatani A, Sakamoto N, Hasegawa S, Nakaoke R, Atarashi R, Kataoka Y, Miyamoto T (1997) Prion protein is necessary for latent learning and long-term memory retention. Cell Mol Neurobiol 17: 537-545
31. Parchi P, Castellani R, Cortelli P, Montagna P, Chen SG, Petersen RB, Manetto V, Vnencak-Jones CL, McLean MJ, Sheller JR, Lugaresi E, Autilio-Gambetti L, Gambetti P (1995) Regional Distribution of Protease-resistant Prion Protein in Fatal Familial Insomnia. Ann Neurol 38: 21-29.
32. Parmeggiani PL (1964) A study on the central representation of sleep behaviour. Prog Brain Res 6: 180-190.
33. Rieger R, Edenhofer F. Lasmezas CI and Weiss S (1997) The human 37-kDa lammin receptor precursor interacts with the prion protein in eukaryotic cells. Nature Med 3: 1383-1388.
34. Sakaguchi S, Katamine S. Nishida N, Moriuchi R, Shigematsu K, Sugimoto T, Nakatani A, Kataoka Y, Houtani T, Shirabe S, Okada H, Hasegawa S, Miyamoto T, Noda T (1996) Loss of cerefaellar Purkinje cells in aged mice homozygous for a disrupted PrP gene. Nature 380: 528-531
35. Sforza E, Montagna P, Tinuper P, Cortelli P, Avoni P, Fernllo F, Petersen R, Gambetti P, Lugaresi E (1995). Sleep-wake cycle abnormalities in fatal familial insomnia. Evidence of the role of the thalamus in sleep regulation. Electroencephalogr clin Neurophysiol 94: 398-405.
36. Steriade M, McCormick DA, Sejnowski TJ (1993) Thalamocortical oscillations in the sleeping and aroused brain. Science 262: 679-685.
37. Sterman MB, Clemente C (1962) Forebrain inhibiting mechanisms: Cortical synchronization induced by basal forebrain stimulation. Exp Neurol 6: 9-102.
38. Tobler l, Deboer T, Fischer M (1997) Sleep and sleep regulation in normal and prion protein-deficient mice. J Neurosci 17: 1869-1879
39. Tobler l, Gaus SE, Deboer T, Achermann P, Fischer M, Rülicke T, Moser M, Oesch B, McBride PA, Manson JC (1996) Altered circadian activity rhythms and sleep in mice devoid of prion protein Nature 380: 639-642
40. Tobler IM, Fischer M, Manson JC (1998) Sleep and circadian rest-activity rhythms in prion protein knockout mice. In: Lydie R (ed.), Molecular regulation of arousal states, Chapter 16, pp. 191-199, CRC Press: Boca Raton
41. Villablanca J, Marcus R (1972) Sleep-wakefulness, EEG and behavioral studies of chronic cats without neocortex and striatum: the "diencephalic" cat. Arch Ital Biol 110: 348-382.
42. Villablanca J, Salinas-Zeballos ME (1972) Sleep-wakefulness, EEG and behavioral studies of chronic cats without the thalamus: the "athalamic" cat. Arch Ital Biol 110: 383-411.
43. Westaway D, Prusiner SB (1986) Conservation of the cellular gene encoding the scrapie prion protein. Nucleic Acids Res 14: 2035-2044
44. Whittington MA, Sidle KCL, Gowland L, Meads J, Hill AF, Palmer MS, Jefferys JGR, Collinge J (1995) Rescue of neurophysiological phenotype seen in PrP null mice by transgene encoding human prion protein. Nat Gen 9:197-201
45. Zacco A, Cooper V, Chantier PD, Fisher-Hyland S, Norton HL, Levitt P (1990) isolation, biochemical characterization and ultrastructural analysis of the limbic system-associated membrane protein, a protein expressed by neurons comprising functional neural circuits. J Neurosci 10: 7390.