FATAL FAMILIAL INSOMNIA (FFI) - A PRION DISEASE WITH A MUTATION AT CODON-178 OF THE PRION PROTEIN GENE

被引:0
|
作者
GAMBETTI, P
MEDORI, R
TRITSCHLER, H
LEBLANC, A
MONTAGNA, P
CORTELLI, P
TINUPER, P
MONARI, L
TABATON, M
PETERSEN, R
AUTILIOGAMBETTI, L
LUGARESI, E
机构
[1] CASE WESTERN RESERVE UNIV,CLEVELAND,OH 44106
[2] NEUROL INST,BOLOGNA,ITALY
关键词
D O I
暂无
中图分类号
R74 [神经病学与精神病学];
学科分类号
摘要
引用
收藏
页码:353 / 353
页数:1
相关论文
共 50 条
  • [21] Defining the Prion Type of Fatal Familial Insomnia
    Juergens-Wemheuer, Wiebke
    Wrede, Arne
    Schulz-Schaeffer, Walter
    [J]. PATHOGENS, 2021, 10 (10):
  • [22] Familial Creutzfeldt-Jakob disease associated with a point mutation at codon 210 of the prion protein gene
    Huang, N
    Marie, SKN
    Kok, F
    Nitrini, R
    [J]. ARQUIVOS DE NEURO-PSIQUIATRIA, 2001, 59 (04) : 932 - 935
  • [23] FATAL FAMILIAL INSOMNIA AND ONE SUBTYPE OF FAMILIAL CREUTZFELD-JAKOB DISEASE - EFFECT OF A POLYMORPHISM ON A PATHOGENIC MUTATION IN THE PRION PROTEIN
    PETERSEN, RB
    GOLDFARB, L
    TABATON, M
    BROWN, P
    LEBLANC, A
    MONTAGNA, P
    CORTELLI, P
    MONARI, L
    AUTILIOGAMBETTI, L
    GAJDUSEK, DC
    LUGARESI, E
    GAMBETTI, P
    [J]. FASEB JOURNAL, 1993, 7 (04): : A627 - A627
  • [24] Sporadic occurrence of fatal thalamic insomnia without a prion protein gene mutation.
    Nixon, R
    Mastrianni, J
    Roberts, J
    Prusiner, S
    DeArmond, S
    [J]. JOURNAL OF NEUROPATHOLOGY AND EXPERIMENTAL NEUROLOGY, 1996, 55 (05): : 225 - 225
  • [25] Fatal insomnia: the elusive prion disease
    Patel, Dharmini
    Ibrahim, Hagar
    Rankin, Julia
    Hilton, David
    Barria, Marcelo A.
    Ritchie, Diane L.
    Smith, Colin
    Zeman, Adam
    [J]. BMJ CASE REPORTS, 2021, 14 (06)
  • [26] FATAL FAMILIAL INSOMNIA AND THE WIDENING SPECTRUM OF PRION DISEASES
    GAMBETTI, P
    PETERSEN, R
    MONARI, L
    TABATON, M
    AUTILIOGAMBETTI, L
    CORTELLI, P
    MONTAGNA, P
    LUGARESI, E
    [J]. BRITISH MEDICAL BULLETIN, 1993, 49 (04) : 980 - 994
  • [27] UNCOMMON PHENOTYPE FOR A CODON-178 MUTATION OF THE HUMAN PRP GENE
    LAPLANCHE, JL
    CHATELAIN, J
    THOMAS, S
    LAUNAY, JM
    GAULTIER, C
    DEROUESNE, C
    [J]. ANNALS OF NEUROLOGY, 1992, 31 (03) : 345 - 345
  • [28] The spectrum of prion pathology broadens: Fatal familial insomnia
    Delgado-Reyes, S
    Feito-Ibarz, N
    Ruiz-Alaez, A
    de la Rocha, MLG
    Martin-Araguz, A
    Moreno-Martinez, JM
    [J]. REVISTA DE NEUROLOGIA, 1997, 25 (148) : 2006 - 2014
  • [29] Fatal familial insomnia in one patient with both D178N and E200K prion protein gene mutations
    Antunes, A. P.
    Pereira, A. G.
    Peralta, A. R.
    Coelho, M.
    Guedes, L. C.
    Albuquerque, L.
    [J]. JOURNAL OF NEUROLOGY, 2014, 261 : S260 - S260
  • [30] Fatal familial insomnia in one patient with both D178N and E200K prion protein gene mutations
    Antunes, A. P.
    Pereira, A. G.
    Peralta, A. R.
    Coelho, M.
    Guedes, L. C.
    Albuquerque, L.
    [J]. EUROPEAN JOURNAL OF NEUROLOGY, 2014, 21 : 388 - 388