Sporadic Creutzfeldt-Jakob disease in a young Dutch valine homozygote: Atypical molecular phenotype

被引：26
作者：
Head, MW [1 ]
Tissingh, G
Uitdehaag, BMJ
Barkhof, F
Bunn, TJR
Ironside, JW
Kamphorst, W
Scheltens, P
机构：
[1] Univ Edinburgh, Western Gen Hosp, Natl CJD Surveillance Unit, Edinburgh EH4 2XU, Midlothian, Scotland
[2] Univ Edinburgh, Western Gen Hosp, Dept Pathol, Edinburgh EH4 2XU, Midlothian, Scotland
[3] Vrije Univ Amsterdam, Med Ctr, Dept Neurol, Amsterdam, Netherlands
[4] Vrije Univ Amsterdam, Med Ctr, Dept Radiol, Amsterdam, Netherlands
[5] Vrije Univ Amsterdam, Med Ctr, Dept Pathol, Amsterdam, Netherlands
来源：
ANNALS OF NEUROLOGY | 2001年 / 50卷 / 02期
关键词：
D O I：
10.1002/ana.1100
中图分类号：
R74 [神经病学与精神病学];
学科分类号：
摘要：
A case of sporadic Creutzfeldt-Jakob disease (sCJD) is described in a young Dutch protein prion gene (PRNP) codon 129 valine homozygote. Certain clinical and molecular features of this case overlap those,of variant CJD. The case highlights possible difficulties in the differential diagnosis of vCJD and the more rare sCJD subtypes based on molecular features alone.
引用
收藏
页码：258 / 261
页数：4
相关论文
共 21 条
  • [1] Transmissions to mice indicate that 'new variant' CJD is caused by the BSE agent
    Bruce, ME
    Will, RG
    Ironside, JW
    McConnell, I
    Drummond, D
    Suttie, A
    McCardle, L
    Chree, A
    Hope, J
    Birkett, C
    Cousens, S
    Fraser, H
    Bostock, CJ
    [J]. NATURE, 1997, 389 (6650) : 498 - 501
  • [2] Phenotype-genotype studies in kuru:: Implications for new variant Creutzfeldt-Jakob disease
    Cervenáková, L
    Goldfarb, LG
    Garruto, R
    Lee, HS
    Gajdusek, DC
    Brown, P
    [J]. PROCEEDINGS OF THE NATIONAL ACADEMY OF SCIENCES OF THE UNITED STATES OF AMERICA, 1998, 95 (22) : 13239 - 13241
  • [3] Molecular analysis of prion strain variation and the aetiology of 'new variant' CJD
    Collinge, J
    Sidle, KCL
    Meads, J
    Ironside, J
    Hill, AF
    [J]. NATURE, 1996, 383 (6602) : 685 - 690
  • [4] Incubation period of Creutzfeldt-Jakob disease in human growth hormone recipients in France
    d'Aignaux, JH
    Costagliola, D
    Maccario, J
    de Villemeur, TB
    Brandel, JP
    Deslys, JP
    Hauw, JJ
    Chaussain, JL
    Agid, Y
    Dormont, D
    Alpérovitch, A
    [J]. NEUROLOGY, 1999, 53 (06) : 1197 - 1201
  • [5] Hainfellner JA, 1999, ANN NEUROL, V45, P812
  • [6] Investigation of variant Creutzfeldt-Jakob disease and other human prion diseases with tonsil biopsy samples
    Hill, AF
    Butterworth, RJ
    Joiner, S
    Jackson, G
    Rossor, MN
    Thomas, DJ
    Frosh, A
    Tolley, N
    Bell, JE
    Spencer, M
    King, A
    Al-Sarraj, S
    Ironside, JW
    Lantos, PL
    Collinge, J
    [J]. LANCET, 1999, 353 (9148) : 183 - 189
  • [7] The same prion strain causes vCJD and BSE
    Hill, AF
    Desbruslais, M
    Joiner, S
    Sidle, KCL
    Gowland, I
    Collinge, J
    Doey, LJ
    Lantos, P
    [J]. NATURE, 1997, 389 (6650) : 448 - 450
  • [8] Laboratory diagnosis of variant Creutzfeldt-Jakob disease
    Ironside, JW
    Head, MW
    Bell, JE
    McCardle, L
    Will, RG
    [J]. HISTOPATHOLOGY, 2000, 37 (01) : 1 - 9
  • [9] McLean CA, 1998, BRAIN PATHOL, V8, P429
  • [10] Different patterns of truncated prion protein fragments correlate with distinct phenotypes in P102L Gerstmann-Straussler-Scheinker disease
    Parchi, P
    Chen, SG
    Brown, P
    Zou, WQ
    Capellari, S
    Budka, H
    Hainfellner, J
    Reyes, PF
    Golden, GT
    Hauw, JJ
    Gajdusek, DC
    Gambetti, P
    [J]. PROCEEDINGS OF THE NATIONAL ACADEMY OF SCIENCES OF THE UNITED STATES OF AMERICA, 1998, 95 (14) : 8322 - 8327
123