메뉴 건너뛰기




Volumn 21, Issue 8, 2006, Pages 414-420

Fatal familiar insomnia: Clinical, neurophysiological and histopathological study of two cases;Insomnio letal familiar: Estudio clínico, neurofisiológico e histopatológico de dos casos

Author keywords

Fatal familial insomnia; Polysomnography; Prion diseases; Thalamic gliosis

Indexed keywords

ADULT; ARTICLE; CASE REPORT; FATAL FAMILIAL INSOMNIA; FATALITY; GENOTYPE; HUMAN; MALE; MIDDLE AGED; PATHOLOGY; PATHOPHYSIOLOGY; PHENOTYPE; POLYSOMNOGRAPHY;

EID: 34248381446     PISSN: 02134853     EISSN: 15781968     Source Type: Journal    
DOI: None     Document Type: Article
Times cited : (12)

References (17)
  • 1
    • 0022447484 scopus 로고
    • Fatal familial insomnia and dysautonomia with selective degeneration of thalamic nuclei
    • 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;315:997-1003.
    • (1986) N Engl J Med , vol.315 , pp. 997-1003
    • Lugaresi, E.1    Medori, R.2    Montagna, P.3    Baruzzi, A.4    Cortelli, P.5    Lugaresi, A.6
  • 4
    • 24944561061 scopus 로고    scopus 로고
    • Prion diseases
    • Johnson RT. Prion diseases. Lancet Neurol 2005;4:635-42.
    • (2005) Lancet Neurol , vol.4 , pp. 635-642
    • Johnson, R.T.1
  • 6
    • 0026552043 scopus 로고
    • Fatal familial insomnia, a prion disease with a mutation at codon 178 of the prion protein gene
    • 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;326:444-9.
    • (1992) N Engl J Med , vol.326 , pp. 444-449
    • Medori, R.1    Tritschler, H.J.2    LeBlanc, A.3    Villare, F.4    Manetto, V.5    Chen, H.Y.6
  • 7
    • 7144253795 scopus 로고    scopus 로고
    • Clinical features of fatal familial insomnia: Phenotypic variability in relation to a polymorphism at codon 129 of the prion protein gene
    • 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;8:515-20.
    • (1998) Brain Pathol , vol.8 , pp. 515-520
    • Montagna, P.1    Cortelli, P.2    Avoni, P.3    Tinuper, P.4    Plazzi, G.5    Gallassi, R.6
  • 11
    • 33244468109 scopus 로고    scopus 로고
    • Distinct glycoform ratios of protease resistant prion protein associated with PRNP point mutations
    • Hill AF, Joiner S, Beck JA, Campbell TA, Dickinson A, Poulter M, et al. Distinct glycoform ratios of protease resistant prion protein associated with PRNP point mutations. Brain 2006;129(Pt 3):676-85.
    • (2006) Brain , vol.129 , Issue.PART 3 , pp. 676-685
    • Hill, A.F.1    Joiner, S.2    Beck, J.A.3    Campbell, T.A.4    Dickinson, A.5    Poulter, M.6
  • 12
    • 0033388492 scopus 로고    scopus 로고
    • Fatal familial insomnia: Clinical, laboratory and pathological features
    • Montagna P. Fatal familial insomnia: clinical, laboratory and pathological features. Rev Neurol 1999;29:1006-9.
    • (1999) Rev Neurol , vol.29 , pp. 1006-1009
    • Montagna, P.1
  • 14
    • 0024403624 scopus 로고
    • The thalamus participates in the regulation of the sleep-waking cycle. A clinico-pathological study in fatal familial thalamic degeneration
    • 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;73:117-23.
    • (1989) Electroencephalogr Clin Neurophysiol , vol.73 , pp. 117-123
    • Tinuper, P.1    Montagna, P.2    Medori, R.3    Cortelli, P.4    Zucconi, M.5    Baruzzi, A.6
  • 15
    • 0036231687 scopus 로고    scopus 로고
    • Agrypnia Excitata: A generalized overactivity syndrome and a useful concept in the neurophysiopathology of sleep
    • Montagna P, Lugaresi E. Agrypnia Excitata: a generalized overactivity syndrome and a useful concept in the neurophysiopathology of sleep. Clin Neurophysiol 2002;113:552-60.
    • (2002) Clin Neurophysiol , vol.113 , pp. 552-560
    • Montagna, P.1    Lugaresi, E.2
  • 16
    • 24144441743 scopus 로고    scopus 로고
    • Fatal familial insomnia: A model disease in sleep physiopathology
    • Montagna P. Fatal familial insomnia: a model disease in sleep physiopathology. Sleep Med Rev 2005;9:339-53.
    • (2005) Sleep Med Rev , vol.9 , pp. 339-353
    • Montagna, P.1
  • 17
    • 33244475780 scopus 로고    scopus 로고
    • Pre-symptomatic diagnosis in fatal familial insomnia: Serial neurophysiological and 18FDG-PET studies
    • Cortelli P, Perani D, Montagna P, Gallassi R, Tinuper P, Federica P, et al. Pre-symptomatic diagnosis in fatal familial insomnia: serial neurophysiological and 18FDG-PET studies. Brain 2006;129(Pt 3):668-75.
    • (2006) Brain , vol.129 , Issue.PART 3 , pp. 668-675
    • Cortelli, P.1    Perani, D.2    Montagna, P.3    Gallassi, R.4    Tinuper, P.5    Federica, P.6


* 이 정보는 Elsevier사의 SCOPUS DB에서 KISTI가 분석하여 추출한 것입니다.