De novo seven extra repeat expanded mutation in the PRNP gene in an Italian patient with early onset dementia

被引：7
作者：
Cannella, M. [1 ]
Martino, T. [1 ]
Simonelli, M. [1 ]
Ciammola, A. [2 ]
Gradini, R. [3 ]
Ciarmiello, A. [4 ]
Gianfrancesco, F. [5 ]
Squitieri, F. [1 ]
机构：
[1] IRCCS Neuromed, Neurogenet Unit, I-86077 Pozzilli, Italy
[2] IRCCS, Dino Ferrari Ctr, Ist Auxol Italiano, Dept Neurol Lab Neurosci, Milan, Italy
[3] Univ Roma La Sapienza, Dept Expt Med, Rome, Italy
[4] IRCCS Pascale, Dept Nucl Med, Naples, Italy
[5] Italian Natl Res Council, Int Inst Genet & Biophys, Naples, Italy
来源：
JOURNAL OF NEUROLOGY NEUROSURGERY AND PSYCHIATRY | 2007年 / 78卷 / 12期
关键词：
D O I：
10.1136/jnnp.2007.121137
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：1411 / 1413
页数：5
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  • [1] A case with a 120 base pair insertional mutation in the prion protein gene: the first case in Japan
    Beck, G
    Kawano, T
    Naba, I
    Nishimura, T
    Sawada, J
    Hazama, T
    [J]. JOURNAL OF NEUROLOGY NEUROSURGERY AND PSYCHIATRY, 2005, 76 (05) : 756 - 757
  • [2] Octapeptide repeat insertions in the prion protein gene and early onset dementia
    Croes, EA
    Theuns, J
    Houwing-Duistermaat, JJ
    Dermaut, B
    Sleegers, K
    Roks, G
    Van den Broeck, M
    van Harten, B
    van Swieten, JC
    Cruts, M
    Van Broeckhoven, C
    van Duijn, CM
    [J]. JOURNAL OF NEUROLOGY NEUROSURGERY AND PSYCHIATRY, 2004, 75 (08) : 1166 - 1170
  • [3] TRANSMISSIBLE FAMILIAL CREUTZFELDT-JAKOB DISEASE ASSOCIATED WITH 5, 7, AND 8 EXTRA OCTAPEPTIDE CODING REPEATS IN THE PRNP GENE
    GOLDFARB, LG
    BROWN, P
    MCCOMBIE, WR
    GOLDGABER, D
    SWERGOLD, GD
    WILLS, PR
    CERVENAKOVA, L
    BARON, H
    GIBBS, CJ
    GAJDUSEK, DC
    [J]. PROCEEDINGS OF THE NATIONAL ACADEMY OF SCIENCES OF THE UNITED STATES OF AMERICA, 1991, 88 (23) : 10926 - 10930
  • [4] Prominent psychiatric features and early onset in an inherited prion disease with a new insertional mutation in the prion protein gene
    Laplanche, JL
    El Hachimi, KH
    Durieux, I
    Thuillet, P
    Defebvre, L
    Delasnerie-Lauprêtre, N
    Peoc'h, K
    Foncin, JF
    Destée, A
    [J]. BRAIN, 1999, 122 : 2375 - 2386
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