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
  • [41] An autopsied case of Creutzfeldt-Jakob disease with mutation in the prion protein gene codon 232 and type 1+2 prion protein
    Iwasaki, Yasushi
    Yokoi, Fuji
    Tatsumi, Shinsui
    Mimuro, Maya
    Iwai, Katsushige
    Kitamoto, Tetsuyuki
    Yoshida, Mari
    [J]. NEUROPATHOLOGY, 2013, 33 (05) : 568 - 575
  • [42] Prion protein conformation in a patient with sporadic fatal insomnia
    Mastrianni, JA
    Nixon, R
    Layzer, R
    Telling, GC
    Han, D
    DeArmond, SJ
    Prusiner, SB
    [J]. NEW ENGLAND JOURNAL OF MEDICINE, 1999, 340 (21): : 1630 - 1638
  • [43] Neuronal subset specific alterations in prion disease:: The serotonergic system in fatal familial insomnia
    Guentchev, M
    Wanschitz, J
    Klöppel, S
    Jarius, C
    Birner, P
    Flicker, H
    Hainfellner, JA
    Budka, H
    [J]. BRAIN PATHOLOGY, 2000, 10 (04) : 670 - 670
  • [44] Characteristics of the pathological prion protein in fatal familiar insomnia
    Wemheuer, Wiebke
    Wrede, Arne
    Schulz-Schaeffer, Walter
    [J]. PRION, 2012, 6 : 133 - 133
  • [45] A NEW POINT MUTATION IN THE PRION PROTEIN GENE AT CODON 210 IN CREUTZFELDT-JAKOB-DISEASE
    RIPOLL, L
    LAPLANCHE, JL
    SALZMANN, M
    JOUVET, A
    PLANQUES, B
    DUSSAUCY, M
    CHATELAIN, J
    BEAUDRY, P
    LAUNAY, JM
    [J]. NEUROLOGY, 1993, 43 (10) : 1934 - 1938
  • [46] Familial prion disease mutation alters the secondary structure of recombinant mouse prion protein: Implications for the mechanism of prion formation
    Cappai, R
    Stewart, L
    Jobling, MF
    Thyer, JM
    White, AR
    Beyreuther, K
    Collins, SJ
    Masters, CL
    Barrow, CJ
    [J]. BIOCHEMISTRY, 1999, 38 (11) : 3280 - 3284
  • [47] EFFECT OF A POLYMORPHISM ON THE PATHOGENIC 178ASN MUTATION IN THE PRION PROTEIN GENE
    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]. JOURNAL OF NEUROPATHOLOGY AND EXPERIMENTAL NEUROLOGY, 1993, 52 (03): : 293 - 293
  • [48] Fatal familial insomnia and familial Creutzfedt-Jakob disease: Abnormal prion protein (PrPres) encoded by the mutant allele.
    Chen, SG
    Parchi, P
    Brown, P
    Roos, RP
    VnencakJones, CL
    Gambetti, P
    [J]. JOURNAL OF NEUROPATHOLOGY AND EXPERIMENTAL NEUROLOGY, 1996, 55 (05): : 124 - 124
  • [49] Genotyping of the prion protein gene at codon 129
    Klaus Zimmermann
    Peter L. Turecek
    Hans Peter Schwarz
    [J]. Acta Neuropathologica, 1999, 97 : 355 - 358
  • [50] Genotyping of the prion protein gene at codon 129
    Zimmermann, K
    Turecek, PL
    Schwarz, HP
    [J]. ACTA NEUROPATHOLOGICA, 1999, 97 (04) : 355 - 358