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Fatal Familial Insomnia

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Autonomic Nervous System and Sleep

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Abstract

Fatal familial insomnia (FFI) is a hereditary prion disease linked to a missense mutation at codon 178 of the prion-protein gene (PRNP) located on chromosome 20, determining severe and selective atrophy of mediodorsal and anteroventral thalamic nuclei. FFI is characterized by physiological sleep loss, polygraphically appearing as a slow wave sleep loss, autonomic and motor hyperactivation with peculiar episodes of oneiric stupor.

Dysfunction of the autonomic system is a great burden for FFI patients consisting of sympathetic overactivation, dysregulation of its physiological responses, and disruption of circadian rhythms. Cardiovascular and thermoregulatory systems are the most frequently affected, confirming the increased sympathetic drive with preserved parasympathetic responses.

Sleep loss, autonomic, and motor hyperactivation define agrypnia excitata (AE), which is not exclusive to FFI, but described also in Morvan syndrome (MS) and delirium tremens (DT). These three conditions (FFI, MS and DT) present different pathophysiological mechanisms but share the same thalamolimbic impairment of which AE is one of the possible clinical presentations.

FFI, and consequently AE, is a model for the investigation of the essential role of the thalamus in the organization of body homeostasis, integrating both sleep and autonomic function control.

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References

  1. Lugaresi E, Medori R, Montagna P, Baruzzi A, Cortelli P, Lugaresi A, et al. Fatal familial insomnia and dysautonomia with selective degeneration of thalamic nuclei. N Engl J Med. 1986;315(16):997–1003.

    Article  CAS  PubMed  Google Scholar 

  2. Lugaresi E, Provini F, Cortelli P. Agrypnia excitata. Sleep Med. 2011;12(Suppl 2):S3–10.

    Article  PubMed  Google Scholar 

  3. Kong Q, Surewicz WK, Petersen RB, Zou W, Chen SG, Gambetti P, et al. Inherited prion diseases. In: Prusiner SB, editor. Prion biology and diseases. 2nd ed. New York: Cold Spring Harbor Laboratory Press; 2004. p. 673–775.

    Google Scholar 

  4. Cortelli P, Perani D, Montagna P, Gallassi R, Tinuper P, Provini F, et al. Pre-symptomatic diagnosis in fatal familial insomnia: serial neurophysiological and 18fdg-pet studies. Brain. 2006;129(Pt 3):668–75.

    Article  PubMed  Google Scholar 

  5. Liguori R, Vincent A, Clover L, Avoni P, Plazzi G, Cortelli P, et al. Morvan’s syndrome: peripheral and central nervous system and cardiac involvement with antibodies to voltage-gated potassium channels. Brain. 2001;124(Pt 12):2417–26.

    Article  CAS  PubMed  Google Scholar 

  6. Plazzi G, Montagna P, Meletti S, Lugaresi E. Polysomnographic study of sleeplessness and oneiricisms in the alcohol withdrawal syndrome. Sleep Med. 2002;3(3):279–82.

    Article  PubMed  Google Scholar 

  7. Lugaresi E, Provini F. Agrypnia excitata: clinical features and pathophysiological implications. Sleep Med Rev. 2001;5(4):313–22.

    Article  PubMed  Google Scholar 

  8. Montagna P, Lugaresi E. Agrypnia excitata: a generalized overactivity syndrome and a useful concept in the neurophysiopathology of sleep. Clin Neurophysiol. 2002;113(4):552–60.

    Article  CAS  PubMed  Google Scholar 

  9. Montagna P. Fatal familial insomnia: a model disease in sleep physiopathology. Sleep Med Rev. 2005;9(5):339–53.

    Article  PubMed  Google Scholar 

  10. Benarroch EE, Stotz-Potter EH. Dysautonomia in fatal familial insomnia as an indicator of the potential role of the thalamus in autonomic control. Brain Pathol. 1998;8(3):527–30.

    Article  CAS  PubMed  Google Scholar 

  11. Manetto V, Medori R, Cortelli P, Montagna P, Tinuper P, Baruzzi A, et al. Fatal familial insomnia: clinical and pathologic study of five new cases. Neurology. 1992;42(2):312–9.

    Article  CAS  PubMed  Google Scholar 

  12. Medori R, Tritschler HJ, Leblanc A, Villare F, Manetto V, Chen HY, et al. Fatal familial insomnia, a prion disease with a mutation at codon 178 of the prion protein gene. N Engl J Med. 1992;326(7):444–9.

    Article  CAS  PubMed  PubMed Central  Google Scholar 

  13. Dimitri D, Jehel L, Durr A, Levy-Soussan M, Andreux V, Laplanche JL, et al. Fatal familial insomnia presenting as psychosis in an 18-year-old man. Neurology. 2006;67(2):363–4.

    Article  CAS  PubMed  Google Scholar 

  14. He R, Hu Y, Yao L, Tian Y, Zhou Y, Yi F, et al. Clinical features and genetic characteristics of two Chinese pedigrees with fatal family insomnia. Prion. 2019;13(1):116–23.

    Article  PubMed  PubMed Central  Google Scholar 

  15. Harder A, Gregor A, Wirth T, Kreuz F, Schulz-Schaeffer WJ, Windl O, et al. Early age of onset in fatal familial insomnia. Two novel cases and review of the literature. J Neurol. 2004;251(6):715–24.

    CAS  PubMed  Google Scholar 

  16. Almer G, Hainfellner JA, Brucke T, Jellinger K, Kleinert R, Bayer G, et al. Fatal familial insomnia: a new Austrian family. Brain. 1999;122(Pt 1):5–16.

    Article  PubMed  Google Scholar 

  17. Rupprecht S, Grimm A, Schultze T, Zinke J, Karvouniari P, Axer H, et al. Does the clinical phenotype of fatal familial insomnia depend on PRNP codon 129 methionine-valine polymorphism? J Clin Sleep Med. 2013;9(12):1343–5.

    Article  PubMed  PubMed Central  Google Scholar 

  18. Montagna P, Cortelli P, Avoni P, Tinuper P, Plazzi G, Gallassi R, et al. Clinical features of fatal familial insomnia: phenotypic variability in relation to a polymorphism at codon 129 of the prion protein gene. Brain Pathol. 1998;8(3):515–20.

    Article  CAS  PubMed  Google Scholar 

  19. Gao C, Shi Q, Tian C, Chen C, Han J, Zhou W, et al. The epidemiological, clinical, and laboratory features of Sporadic Creutzfeldt-Jakob disease patients in China: surveillance data from 2006 to 2010. PLoS One. 2011;6(8):E24231.

    Article  CAS  PubMed  PubMed Central  Google Scholar 

  20. Nagoshi K, Sadakane A, Nakamura Y, Yamada M, Mizusawa H. Duration of prion disease is longer in Japan than in other countries. J Epidemiol. 2011;21(4):255–62.

    Article  PubMed  PubMed Central  Google Scholar 

  21. Chen C, Wang J-C, Shi Q, Zhou W, Zhang XM, Zhang J, et al. Analyses of the survival time and the influencing factors of Chinese patients with prion diseases based on the surveillance data from 2008–2011. PLoS One. 2013;8(5):E62553.

    Article  CAS  PubMed  PubMed Central  Google Scholar 

  22. Montagna P, Gambetti P, Cortelli P, Lugaresi E. Familial and sporadic fatal insomnia. Lancet Neurol. 2003;2(3):167–76.

    Article  CAS  PubMed  Google Scholar 

  23. Gambetti P, Kong Q, Zou W, Parchi P, Chen SG. Sporadic and familial CJD: classification and characterisation. Br Med Bull. 2003;66:213–39.

    Article  CAS  PubMed  Google Scholar 

  24. Cracco L, Appleby BS, Gambetti P. Fatal familial insomnia and sporadic fatal insomnia. Handb Clin Neurol. 2018;153:271–99.

    Article  PubMed  Google Scholar 

  25. Guaraldi P, Calandra-Buonaura G, Terlizzi R, Montagna P, Lugaresi E, Tinuper P, et al. Oneiric stupor: The peculiar behaviour of agrypnia excitata. Sleep Med. 2011;12(Suppl 2):S64–7.

    Article  PubMed  Google Scholar 

  26. Lugaresi E, Provini F. Fatal familial insomnia and agrypnia excitata. Rev Neurol Dis. 2007;4(3):145–52.

    PubMed  Google Scholar 

  27. Cortelli P, Fabbri M, Calandra-Buonaura G, Capellari S, Tinuper P, Parchi P, et al. Gait disorders in fatal familial insomnia. Mov Disord. 2014;29(3):420–4.

    Article  PubMed  Google Scholar 

  28. Krasnianski A, Sanchez Juan P, Ponto C, Bartl M, Heinemann U, Varges D, et al. A proposal of new diagnostic pathway for fatal familial insomnia. J Neurol Neurosurg Psychiatry. 2014;85(6):654–9.

    Article  CAS  PubMed  Google Scholar 

  29. Sforza E, Montagna P, Tinuper P, Cortelli P, Avoni P, Ferrillo F, et al. Sleep-wake cycle abnormalities in fatal familial insomnia. Evidence of the role of the thalamus in sleep regulation. Electroencephalogr Clin Neurophysiol. 1995;94(6):398–405.

    Article  CAS  PubMed  Google Scholar 

  30. Tinuper P, Montagna P, Medori R, Cortelli P, Zucconi M, Baruzzi A, et al. The thalamus participates in the regulation of the sleep-waking cycle. A clinico-pathological study in fatal familial thalamic degeneration. Electroencephalogr Clin Neurophysiol. 1989;73(2):117–23.

    Article  CAS  PubMed  Google Scholar 

  31. Baldelli L, Provini F. Fatal familial insomnia and agrypnia excitata: autonomic dysfunctions and pathophysiological implications. Auton Neurosci. 2019;218:68–86. https://doi.org/10.1016/j.autneu.2019.02.007.

    Article  PubMed  Google Scholar 

  32. Berry RB, Brooks R, Gamaldo CE, Harding SM, Lloyd RM, Quan SF, et al. American Academy of Sleep Medicine. The AASM manual for the scoring of sleep and associated events: rules, terminology and technical specifications. Version 2.4. Darien: American Academy of Sleep Medicine; 2017.

    Google Scholar 

  33. Plazzi G, Schutz Y, Cortelli P, Provini F, Avoni P, Heikkila E, et al. Motor overactivity and loss of motor circadian rhythm in fatal familial insomnia: an actigraphic study. Sleep. 1997;20(9):739–42.

    Article  CAS  PubMed  Google Scholar 

  34. Gallassi R, Morreale A, Montagna P, Cortelli P, Avoni P, Castellani R, et al. Fatal familial insomnia: behavioral and cognitive features. Neurology. 1996;46(4):935–9.

    Article  CAS  PubMed  Google Scholar 

  35. Cortelli P, Perani D, Parchi P, Grassi F, Montagna P, De Martin M, et al. Cerebral metabolism in fatal familial insomnia: relation to duration, neuropathology, and distribution of protease-resistant prion protein. Neurology. 1997;49(1):126–33.

    Article  CAS  PubMed  Google Scholar 

  36. Gambetti P, Parchi P, Petersen RB, Chen SG, Lugaresi E. Fatal familial insomnia and familial Creutzfeldt-Jakob disease: clinical, pathological and molecular features. Brain Pathol. 1995;5(1):43–51.

    Article  CAS  PubMed  Google Scholar 

  37. Parchi P, Petersen RZ, Chen SG, Autilio-Gambetti L, Capellari S, Monari L, et al. Molecular pathology of fatal familial insomnia. Brain Pathol. 1998;8(3):539–48.

    Article  CAS  PubMed  Google Scholar 

  38. Monari L, Chen SG, Brown P, Parchi P, Petersen RB, Mikol J, et al. Fatal familial insomnia and familial creutzfeldt-jakob disease: different prion proteins determined by a DNA polymorphism. Proc Natl Acad Sci U S A. 1994;91(7):2839–42.

    Article  CAS  PubMed  PubMed Central  Google Scholar 

  39. Parchi P, Zou W, Wang W, Brown P, Capellari S, Ghetti B, et al. Genetic influence on the structural variations of the abnormal prion protein. Proc Natl Acad Sci U S A. 2000;97(18):10168–72.

    Article  CAS  PubMed  PubMed Central  Google Scholar 

  40. Lugaresi A, Baruzzi A, Cacciari E, Cortelli P, Medori R, Montagna P, et al. Lack of vegetative and endocrine circadian rhythms in fatal familial thalamic degeneration. Clin Endocrinol. 1987;26(5):573–80.

    Article  CAS  Google Scholar 

  41. Peng B, Zhang S, Dong H, Lu Z. Clinical, histopathological and genetic studies in a case of fatal familial insomnia with review of the literature. Int J Clin Exp Pathol. 2015;8(9):10171–7.

    PubMed  PubMed Central  Google Scholar 

  42. Sun C, Xia W, Liu Y, Jia G, Wang C, Yan C, et al. Agrypnia excitata and obstructive apnea in a patient with fatal familial insomnia from China: a case report. Medicine (Baltimore). 2017;96(49):E8951.

    Article  Google Scholar 

  43. Montagna P, Cortelli P, Tinuper P. Fatal familial insomnia: a disease that emphasizes the role of the thalamus in the regulation of sleep and vegetarive functions. In: Guilleminault C, Lugaresi E, Montagna P, Gambetti P, editors. Fatal familial insomnia: inherited prion diseases, sleep, and the thalamus. New York: Raven Press; 1994. p. 1–14.

    Google Scholar 

  44. Casas-Mendez LF, Lujan M, Vigil L, Sansa G. Biot’s breathing in a woman with fatal familial insomnia: is there a role for noninvasive ventilation? J Clin Sleep Med. 2011;7(1):89–91.

    Article  PubMed  PubMed Central  Google Scholar 

  45. Dauvilliers Y, Cervena K, Carlander B, Espa F, Bassetti C, Claustrat B, et al. Dissociation in circadian rhythms in a pseudohypersomnia form of fatal familial insomnia. Neurology. 2004;63(12):2416–8.

    Article  CAS  PubMed  Google Scholar 

  46. Mclean CA, Storey E, Gardner RJ, Tannenberg AE, Cervenakova L, Brown P. The D178n (cis-129m) “fatal familial insomnia” mutation associated with diverse clinicopathologic phenotypes in an australian kindred. Neurology. 1997;49(2):552–8.

    Article  CAS  PubMed  Google Scholar 

  47. Julien J, Vital C, Deleplanque B, Lagueny A, Ferrer X. [Subacute familial thalamic atrophy. memory disorders and complete insomnia]. Rev Neurol (Paris). 1990;146(3):173–178. [Article in French].

    Google Scholar 

  48. Calandra-Buonaura G, Provini F, Guaraldi P, Plazzi G, Cortelli P. Cardiovascular autonomic dysfunctions and sleep disorders. Sleep Med Rev. 2016;26:43–56.

    Article  PubMed  Google Scholar 

  49. Portaluppi F, Cortelli P, Avoni P, Vergnani L, Contin M, Maltoni P, et al. Diurnal blood pressure variation and hormonal correlates in fatal familial insomnia. Hypertension. 1994;23(5):569–76.

    Article  CAS  PubMed  Google Scholar 

  50. Cortelli P, Gambetti P, Montagna P, Lugaresi E. Fatal familial insomnia: clinical features and molecular genetics. J Sleep Res. 1999;8(Suppl 1):23–9.

    Article  PubMed  Google Scholar 

  51. Colombier C, Geraud G, Delisle MB, Laplanche JL, Pavy Le Traon A, Alize P, et al. [Fatal familial insomnia: phenotypic changes determined by polymorphism of the codon 129]. Rev Neurol (Paris). 1997;153(4):239–243.

    Google Scholar 

  52. Portaluppi F, Cortelli P, Avoni P, Vergnani L, Maltoni P, Pavani A, et al. Dissociated 24-hour patterns of somatotropin and prolactin in fatal familial insomnia. Neuroendocrinology. 1995;61(6):731–7.

    Article  CAS  PubMed  Google Scholar 

  53. Tabernero C, Polo JM, Sevillano MD, Munoz R, Berciano J, Cabello A, et al. Fatal familial insomnia: clinical, neuropathological, and genetic description of a Spanish family. J Neurol Neurosurg Psychiatry. 2000;68(6):774–7.

    Article  CAS  PubMed  PubMed Central  Google Scholar 

  54. Cortelli P, Parchi P, Contin M, Pierangeli G, Avoni P, Tinuper P, et al. Cardiovascular dysautonomia in fatal familial insomnia. Clin Auton Res. 1991;1(1):15–21.

    Article  CAS  PubMed  Google Scholar 

  55. Portaluppi F, Cortelli P, Avoni P, Vergnani L, Maltoni P, Pavani A, et al. Progressive disruption of the circadian rhythm of melatonin in fatal familial insomnia. J Clin Endocrinol Metab. 1994;78(5):1075–8.

    CAS  PubMed  Google Scholar 

  56. Donadio V, Montagna P, Pennisi M, Rinaldi R, Di Stasi V, Avoni P, et al. Agrypnia excitata: a microneurographic study of muscle sympathetic nerve activity. Clin Neurophysiol. 2009;120(6):1139–42.

    Article  CAS  PubMed  Google Scholar 

  57. Bar KJ, Hager F, Nenadic I, Opfermann T, Brodhun M, Tauber RF, et al. Serial positron emission tomographic findings in an atypical presentation of fatal familial insomnia. Arch Neurol. 2002;59(11):1815–8.

    Article  PubMed  Google Scholar 

  58. Synofzik M, Bauer P, Schols L. Prion mutation D178N with highly variable disease onset and phenotype. J Neurol Neurosurg Psychiatry. 2009;80(3):345–6.

    Article  CAS  PubMed  Google Scholar 

  59. Lee MJ, Shin J, Chung EJ, Kim SJ, Kwon S, Kim JH, et al. Midbrain hypometabolism in fatal familial insomnia: a case report and a statistical parametric mapping analysis of a Korean family. Case Rep Neurol. 2014;6(3):243–50.

    Article  PubMed  PubMed Central  Google Scholar 

  60. Shi XH, Han J, Zhang J, Shi Q, Chen JM, Xia SL, et al. Clinical, histopathological and genetic studies in a family with fatal familial insomnia. Infect Genet Evol. 2010;10(2):292–7.

    Article  CAS  PubMed  Google Scholar 

  61. Reder AT, Mednick AS, Brown P, Spire JP, Van Cauter E, Wollmann RL, et al. Clinical and genetic studies of fatal familial insomnia. Neurology. 1995;45(6):1068–75.

    Article  CAS  PubMed  Google Scholar 

  62. Fukuoka T, Nakazato Y, Yamamoto M, Miyake A, Mitsufuji T, Yamamoto T. Fatal familial insomnia initially developing parkinsonism mimicking dementia with Lewy bodies. Intern Med. 2018;57(18):2719–22.

    Article  PubMed  PubMed Central  Google Scholar 

  63. Silburn P, Cervenakova L, Varghese P, Tannenberg A, Brown P, Boyle R. Fatal familial insomnia: a seventh family. Neurology. 1996;47(5):1326–8.

    Article  CAS  PubMed  Google Scholar 

  64. Bosque PJ, Vnencak-Jones CL, Johnson MD, Whitlock JA, Mclean MJ. A Prp gene codon 178 base substitution and a 24-bp interstitial deletion in familial Creutzfeldt-Jakob disease. Neurology. 1992;42(10):1864–70.

    Article  CAS  PubMed  Google Scholar 

  65. Harder A, Jendroska K, Kreuz F, Wirth T, Schafranka C, Karnatz N, et al. Novel twelve-generation kindred of fatal familial insomnia from Germany representing the entire spectrum of disease expression. Am J Med Genet. 1999;87(4):311–6.

    Article  CAS  PubMed  Google Scholar 

  66. Frobose T, Slawik H, Schreiner R, Vesely Z, Wiegand M, Bauml J, et al. Agomelatine improves sleep in a patient with fatal familial insomnia. Pharmacopsychiatry. 2012;45(1):34–6.

    Article  CAS  PubMed  Google Scholar 

  67. Zerr I, Giese A, Windl O, Kropp S, Schulz-Schaeffer W, Riedemann C, et al. Phenotypic variability in fatal familial insomnia (d178n-129m) genotype. Neurology. 1998;51(5):1398–405.

    Article  CAS  PubMed  Google Scholar 

  68. Saitoh Y, Ogawa M, Naito Y, Komatsuzaki Y, Tagaya H, Arima K, et al. Discordant clinicopathologic phenotypes in a Japanese kindred of fatal familial insomnia. Neurology. 2010;74(1):86–9.

    Article  CAS  PubMed  Google Scholar 

  69. Rossi G, Macchi G, Porro M, Giaccone G, Bugiani M, Scarpini E, et al. Fatal familial insomnia: genetic, neuropathologic, and biochemical study of a patient from a new Italian kindred. Neurology. 1998;50(3):688–92.

    Article  CAS  PubMed  Google Scholar 

  70. Friedrich M, Korte R, Portero C, Arzberger T, Kretzschmar HA, Zerr I, et al. [Fatal familial insomnia – a rare differential diagnosis in dementia]. Fortschr Neurol Psychiatr. 2008;76(1):36–40. (Article in German).

    Google Scholar 

  71. Lu T, Pan Y, Peng L, Qin F, Sun X, Lu Z, et al. Fatal familial insomnia with abnormal signals on routine MRI: a case report and literature review. BMC Neurol. 2017;17(1):104.

    Article  PubMed  PubMed Central  Google Scholar 

  72. Spacey SD, Pastore M, Mcgillivray B, Fleming J, Gambetti P, Feldman H. Fatal familial insomnia: the first account in a family of Chinese descent. Arch Neurol. 2004;61(1):122–5.

    Article  PubMed  Google Scholar 

  73. Shi Q, Chen C, Gao C, Tian C, Zhou W, Zhang B, et al. Clinical and familial characteristics of ten Chinese patients with fatal family insomnia. Biomed Environ Sci. 2012;25(4):471–5.

    PubMed  Google Scholar 

  74. Medori R, Montagna P, Tritschler HJ, Leblanc A, Cortelli P, Tinuper P, et al. Fatal familial insomnia: a second kindred with mutation of prion protein gene at codon 178. Neurology. 1992;42(3 Pt 1):669–70.

    Article  CAS  PubMed  Google Scholar 

  75. Haik S, Galanaud D, Linguraru MG, Peoc’h K, Privat N, Faucheux BA, et al. In vivo detection of thalamic gliosis: A pathoradiologic demonstration in familial fatal insomnia. Arch Neurol. 2008;65(4):545–9.

    Article  PubMed  Google Scholar 

  76. Abu-Rumeileh S, Redaelli V, Baiardi S, Mackenzie G, Windl O, Ritchie DL, et al. Sporadic fatal insomnia in europe: phenotypic features and diagnostic challenges. Ann Neurol. 2018;84(3):347–60.

    Article  CAS  PubMed  Google Scholar 

  77. Moda F, Suardi S, Di Fede G, Indaco A, Limido L, Vimercati C, et al. MM2-thalamic Creutzfeldt-Jakob disease: neuropathological, biochemical and transmission studies identify a distinctive prion strain. Brain Pathol. 2012;22(5):662–9.

    Article  CAS  PubMed  PubMed Central  Google Scholar 

  78. Hayashi Y, Iwasaki Y, Yoshikura N, Asano T, Hatano T, Tatsumi S, et al. Decreased regional cerebral blood flow in the bilateral thalami and medulla oblongata determined by an easy Z-score (eZIS) analysis of (99m)Tc-ECD-SPECT images in a case of MM2-thalamic-type sporadic Creutzfeldt-Jakob disease. J Neurol Sci. 2015;358(1–2):447–52.

    Article  PubMed  Google Scholar 

  79. Iwasaki Y, Mori K, Ito M, Mimuro M, Kitamoto T, Yoshida M. An autopsied case of MM1 + MM2-cortical with thalamic-type sporadic Creutzfeldt-Jakob disease presenting with hyperintensities on diffusion-weighted MRI before clinical onset. Neuropathology. 2017;37(1):78–85.

    Article  CAS  PubMed  Google Scholar 

  80. Puoti G, Bizzi A, Forloni G, Safar JG, Tagliavini F, Gambetti P. Sporadic human prion diseases: molecular insights and diagnosis. Lancet Neurol. 2012;11(7):618–28.

    Article  CAS  PubMed  Google Scholar 

  81. Collinge J, Clarke AR. A general model of prion strains and their pathogenicity. Science. 2007;318(5852):930–6.

    Article  CAS  PubMed  Google Scholar 

  82. Imberdis T, Harris DA. Synthetic prions provide clues for understanding prion diseases. Am J Pathol. 2016;186(4):761–4.

    Article  CAS  PubMed  PubMed Central  Google Scholar 

  83. Parchi P, Giese A, Capellari S, Brown P, Schulz-Schaeffer W, Windl O, et al. Classification of sporadic Creutzfeldt-Jakob disease based on molecular and phenotypic analysis of 300 subjects. Ann Neurol. 1999;46(2):224–33.

    Article  CAS  PubMed  Google Scholar 

  84. Cracco L, Notari S, Cali I, Sy MS, Chen SG, Cohen ML, et al. Novel strain properties distinguishing sporadic prion diseases sharing prion protein genotype and prion type. Sci Rep. 2017;7:38280.

    Article  CAS  PubMed  PubMed Central  Google Scholar 

  85. Provini F. Agrypnia excitata. Curr Neurol Neurosci Rep. 2013;13(4):341.

    Article  PubMed  Google Scholar 

  86. Provini F, Tachibana N. Acute REM sleep behavior disorder. In: Schenck CH, Högl B, Videnovic A, editors. Rapid-eye-movement sleep behavior disorder. Cham: Springer Nature; 2019. p. 153–71.

    Chapter  Google Scholar 

  87. Morvan A. [De la chorée fibrillaire]. Gaz Hebd Mèd Chir. 1890;27:173–200). (Article in French).

    Google Scholar 

  88. Vincent A, Buckley C, Schott JM, Baker I, Dewar BK, Detert N, et al. Potassium channel antibody-associated encephalopathy: a potentially immunotherapy-responsive form of limbic encephalitis. Brain. 2004;127(Pt 3):701–12.

    Article  PubMed  Google Scholar 

  89. Cirelli C, Bushey D, Hill S, Huber R, Kreber R, Ganetzky B, et al. Reduced sleep in drosophila shaker mutants. Nature. 2005;434(7037):1087–92.

    Article  CAS  PubMed  Google Scholar 

  90. Espinosa F, Marks G, Heintz N, Joho RH. Increased motor drive and sleep loss in mice lacking Kv3-type potassium channels. Genes Brain Behav. 2004;3(2):90–100.

    Article  CAS  PubMed  Google Scholar 

  91. Espinosa F, Torres-Vega MA, Marks GA, Joho RH. Ablation of Kv3.1 and Kv3.3 potassium channels disrupts thalamocortical oscillations in vitro and in vivo. J Neurosci. 2008;28(21):5570–81.

    Article  CAS  PubMed  PubMed Central  Google Scholar 

  92. Cornelius JR, Pittock SJ, Mckeon A, Lennon VA, Aston PA, Josephs KA, et al. Sleep manifestations of voltage-gated potassium channel complex autoimmunity. Arch Neurol. 2011;68(6):733–8.

    Article  PubMed  Google Scholar 

  93. Murri L, Bonuccelli U, Iudice A, Simonetti C. [Sleep disturbances in a case of Morvan’s Chorea (Author’s Transl)]. Riv Patol Nerv Ment. 1976;97(6):350–356. (Article in Italian).

    Google Scholar 

  94. Fischer-Perroudon C, Trillet M, Mouret J, Tommasi M, Jouvet M, Schott B, et al. [Polygraphic and metabolic studies of persistent insomnia with hallucinations. apropos of an antomo-clinical study of a case of morvan’s fibrillar chorea]. Rev Neurol (Paris). 1974;130(3–4):111–125. (Article in French).

    Google Scholar 

  95. Abou-Zeid E, Boursoulian LJ, Metzer WS, Gundogdu B. Morvan syndrome: Acase report and review of the literature. J Clin Neuromuscul Dis. 2012;13(4):214–27.

    Article  PubMed  Google Scholar 

  96. Spinazzi M, Argentiero V, Zuliani L, Palmieri A, Tavolato B, Vincent A. Immunotherapy-reversed compulsive, monoaminergic, circadian rhythm disorder in Morvan syndrome. Neurology. 2008;71(24):2008–10.

    Article  CAS  PubMed  Google Scholar 

  97. Provini F, Cortelli P, Montagna P, Gambetti P, Lugaresi E. Fatal insomnia and agrypnia excitata: sleep and the limbic system. Rev Neurol (Paris). 2008;164(8–9):692–700.

    Article  CAS  Google Scholar 

  98. Tachibana M, Tanaka K, Hishikawa Y, Kaneko Z. A sleep study of acute psychotic states due to alcohol and meprobamate addiction. In: Weitzman E, editor. Advances in sleep research. New York: Spectrum; 1975. p. 177–203.

    Google Scholar 

  99. Kotorii T, Nakazawa Y, Yokoyama T, Kurauchi H, Sakurada H, Ohkawa T, et al. The sleep pattern of chronic alcoholics during the alcohol withdrawal period. Folia Psychiatr Neurol Jpn. 1980;34(2):89–95.

    CAS  PubMed  Google Scholar 

  100. Mckeon A, Frye MA, Delanty N. The alcohol withdrawal syndrome. J Neurol Neurosurg Psychiatry. 2008;79(8):854–62.

    Article  CAS  PubMed  Google Scholar 

  101. Louis ED, Lynch T, Kaufmann P, Fahn S, Odel J. Diagnostic guidelines in central nervous system Whipple’s disease. Ann Neurol. 1996;40(4):561–8.

    Article  CAS  PubMed  Google Scholar 

  102. Schwartz MA, Selhorst JB, Ochs AL, Beck RW, Campbell WW, Harris JK, et al. Oculomasticatory myorhythmia: a unique movement disorder occurring in Whipple’s disease. Ann Neurol. 1986;20(6):677–83.

    Article  CAS  PubMed  Google Scholar 

  103. Voderholzer U, Riemann D, Gann H, Hornyak M, Juengling F, Schumacher M, et al. Transient total sleep loss in cerebral Whipple’s disease: a longitudinal study. J Sleep Res. 2002;11(4):321–9.

    Article  PubMed  Google Scholar 

  104. Calandra-Buonaura G, Provini F, Guaraldi P, Pizza F, Cecere A, Barletta G, et al. Oculomasticatory myorhythmia and agrypnia excitata guide the diagnosis of Whipple disease. Sleep Med. 2013;14(12):1428–30.

    Article  PubMed  Google Scholar 

  105. Lugaresi E, Provini F, Montagna P. The neuroanatomy of sleep. Considerations on the role of the thalamus in sleep and a proposal for a caudorostral organization. Eur J Anat. 2004;8(2):85–93.

    Google Scholar 

  106. Steriade M, Mccormick DA, Sejnowski TJ. Thalamocortical oscillations in the sleeping and aroused brain. Science. 1993;262(5134):679–85.

    Article  CAS  PubMed  Google Scholar 

  107. Jouvet M. [Research on the neural structures and responsible mechanisms in different phases of physiological sleep]. Arch Ital Biol. 1962;100:125–206. (Article in Italian).

    Google Scholar 

  108. Lu J, Sherman D, Devor M, Saper CB. A putative flip-flop switch for control of REM sleep. Nature. 2006;441(7093):589–94.

    Article  CAS  PubMed  Google Scholar 

  109. Saper CB, Fuller PM, Pedersen NP, Lu J, Scammell TE. Sleep state switching. Neuron. 2010;68(6):1023–42.

    Article  CAS  PubMed  PubMed Central  Google Scholar 

  110. Perani D, Cortelli P, Lucignani G, Montagna P, Tinuper P, Gallassi R, et al. [18f]FDG PET in fatal familial insomnia: the functional effects of thalamic lesions. Neurology. 1993;43(12):2565–9.

    Article  CAS  PubMed  Google Scholar 

  111. Benarroch EE. The central autonomic network: functional organization, dysfunction, and perspective. Mayo Clin Proc. 1993;68(10):988–1001.

    Article  CAS  PubMed  Google Scholar 

  112. Lugaresi E, Tobler I, Gambetti P, Montagna P. The pathophysiology of fatal familial insomnia. Brain Pathol. 1998;8(3):521–6.

    Article  CAS  PubMed  Google Scholar 

  113. Stotz-Potter E, Benarroch E. Removal of gabaergic inhibition in the mediodorsal nucleus of the rat thalamus leads to increases in heart rate and blood pressure. Neurosci Lett. 1998;247(2–3):127–30.

    Article  CAS  PubMed  Google Scholar 

  114. Oppenheimer SM, Kulshreshtha N, Lenz FA, Zhang Z, Rowland LH, Dougherty PM. Distribution of cardiovascular related cells within the human thalamus. Clin Auton Res. 1998;8(3):173–9.

    Article  CAS  PubMed  Google Scholar 

  115. Sterling P, Eyer J. Allostasis: a new paradigm to explain arousal pathology. In: Fisher S, Reason J, editors. Handbook of life stress, cognition and health. New York: John Wiley & Sons; 1988. p. 629–49.

    Google Scholar 

  116. McEwen BS. Stress, adaptation, and disease. Allostasis and allostatic load. Ann N Y Acad Sci. 1998;840:33–44.

    Article  CAS  PubMed  Google Scholar 

  117. McEwen BS. Allostasis and the epigenetics of brain and body health over the life course: the brain on stress. JAMA Psychiat. 2017;74(6):551–2.

    Article  Google Scholar 

  118. McEwen BS, Gray JD, Nasca C. 60 years of neuroendocrinology: redefining neuroendocrinology: stress, sex and cognitive and emotional regulation. J Endocrinol. 2015;226(2):T67–83.

    Article  CAS  PubMed  PubMed Central  Google Scholar 

  119. McEwen BS. Physiology and neurobiology of stress and adaptation: central role of the brain. Physiol Rev. 2007;87(3):873–904.

    Article  PubMed  Google Scholar 

  120. McEwen BS, Stellar E. Stress and the individual. Mechanisms leading to disease. Arch Intern Med. 1993;153(18):2093–101.

    Article  CAS  PubMed  Google Scholar 

  121. Koob GF, Le Moal M. Drug addiction, dysregulation of reward, and allostasis. neuropsychopharmacology. 2001;24(2):97–129.

    Google Scholar 

  122. Juster RP, Mcewen BS, Lupien SJ. Allostatic load biomarkers of chronic stress and impact on health and cognition. Neurosci Biobehav Rev. 2010;35(1):2–16.

    Article  PubMed  Google Scholar 

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Authors and Affiliations

  1. Department of Biomedical and NeuroMotor Sciences (DIBINEM), University of Bologna, Bologna, Italy

    Luca Baldelli

  2. IRCCS Istituto di Scienze Neurologiche, Bologna, Italy

    Giovanna Calandra-Buonaura, Federica Provini & Pietro Cortelli

  3. Department of Biomedical and NeuroMotor Sciences (DIBINEM), University of Bologna, Bologna, Italy

    Giovanna Calandra-Buonaura, Federica Provini & Pietro Cortelli

Authors
  1. Luca Baldelli
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  2. Giovanna Calandra-Buonaura
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  3. Federica Provini
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  4. Pietro Cortelli
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Correspondence to Pietro Cortelli .

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Editors and Affiliations

  1. School of Graduate Medical Education, Seton Hall University, South Orange, NJ, USA

    Sudhansu Chokroverty

  2. IRCCS-ISNB, PADG1, Osp Bellaria - Pad G1, DIBINEM University of Bologna, Bologna, Italy

    Pietro Cortelli

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Baldelli, L., Calandra-Buonaura, G., Provini, F., Cortelli, P. (2021). Fatal Familial Insomnia. In: Chokroverty, S., Cortelli, P. (eds) Autonomic Nervous System and Sleep. Springer, Cham. https://doi.org/10.1007/978-3-030-62263-3_18

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