Consideration of C9orf72-associated ALS-FTD as a neurodevel-opmental disorder: insights from neuroimaging

被引:17
|
作者
Bede, Peter [1 ]
Siah, We Fong [1 ]
McKenna, Mary Clare [1 ]
Li Hi Shing, Stacey [1 ]
机构
[1] Trinity Coll Dublin, Computat Neuroimaging Grp, Dublin, Ireland
来源
JOURNAL OF NEUROLOGY NEUROSURGERY AND PSYCHIATRY | 2020年 / 91卷 / 11期
关键词
frontotemporal dementia; motor neuron disease; MRI; genetics;
D O I
10.1136/jnnp-2020-324416
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:1138 / 1138
页数:1
相关论文
共 50 条
  • [31] A Hexanucleotide Repeat Expansion in C9ORF72 Is the Cause of Chromosome 9p21-Linked ALS-FTD
    Renton, Alan E.
    Majounie, Elisa
    Waite, Adrian
    Simon-Sanchez, Javier
    Rollinson, Sara
    Gibbs, J. Raphael
    Schymick, Jennifer C.
    Laaksovirta, Hannu
    van Swieten, John C.
    Myllykangas, Liisa
    Kalimo, Hannu
    Paetau, Anders
    Abramzon, Yevgeniya
    Remes, Anne M.
    Kaganovich, Alice
    Scholz, Sonja W.
    Duckworth, Jamie
    Ding, Jinhui
    Harmer, Daniel W.
    Hernandez, Dena G.
    Johnson, Janel O.
    Mok, Kin
    Ryten, Mina
    Trabzuni, Danyah
    Guerreiro, Rita J.
    Orrell, Richard W.
    Neal, James
    Murray, Alex
    Pearson, Justin
    Jansen, Iris E.
    Sondervan, David
    Seelaar, Harro
    Blake, Derek
    Young, Kate
    Halliwell, Nicola
    Callister, Janis Bennion
    Toulson, Greg
    Richardson, Anna
    Gerhard, Alex
    Snowden, Julie
    Mann, David
    Neary, David
    Nalls, Michael A.
    Peuralinna, Terhi
    Jansson, Lilja
    Isoviita, Veli-Matti
    Kaivorinne, Anna-Lotta
    Holtta-Vuori, Maarit
    Ikonen, Elina
    Sulkava, Raimo
    NEURON, 2011, 72 (02) : 257 - 268
  • [32] Cognitive Endophenotype Associated with the C9ORF72 GGGGCC Expansion in FTD/ALS
    Pedraza, Otto
    Boeve, Bradley
    DeJesus-Hernandez, Mariely
    Rush, Beth
    Lucas, John
    Fields, Julie
    Machulda, Mary
    Graff-Radford, Neill
    Knopman, David
    Josephs, Keith
    Rutherford, Nicola
    Baker, Matthew
    Ferman, Tanis
    Smith, Glenn
    Ivnik, Robert
    Wszolek, Zbigniew
    Boylan, Kevin
    Petersen, Ronald
    Rademakers, Rosa
    NEUROLOGY, 2012, 78
  • [33] A C. elegans model of C9orf72-associated ALS/FTD uncovers a conserved role for eIF2D in RAN translation
    Sonobe, Yoshifumi
    Aburas, Jihad
    Krishnan, Gopinath
    Fleming, Andrew C.
    Ghadge, Ghanashyam
    Islam, Priota
    Warren, Eleanor C.
    Gu, Yuanzheng
    Kankel, Mark W.
    Brown, Andre E. X.
    Kiskinis, Evangelos
    Gendron, Tania F.
    Gao, Fen-Biao
    Roos, Raymond P.
    Kratsios, Paschalis
    NATURE COMMUNICATIONS, 2021, 12 (01)
  • [34] A C. elegans model of C9orf72-associated ALS/FTD uncovers a conserved role for eIF2D in RAN translation
    Yoshifumi Sonobe
    Jihad Aburas
    Gopinath Krishnan
    Andrew C. Fleming
    Ghanashyam Ghadge
    Priota Islam
    Eleanor C. Warren
    Yuanzheng Gu
    Mark W. Kankel
    André E. X. Brown
    Evangelos Kiskinis
    Tania F. Gendron
    Fen-Biao Gao
    Raymond P. Roos
    Paschalis Kratsios
    Nature Communications, 12
  • [35] C9orf72 ALS-FTD: recent evidence for dysregulation of the autophagy-lysosome pathway at multiple levels
    Beckers, Jimmy
    Tharkeshwar, Arun Kumar
    Van Damme, Philip
    AUTOPHAGY, 2021, 17 (11) : 3306 - 3322
  • [36] Autophagy and neurodegeneration: Unraveling the role of C9ORF72 in the regulation of autophagy and its relationship to ALS-FTD pathology
    Diab, Rim
    Pilotto, Federica
    Saxena, Smita
    FRONTIERS IN CELLULAR NEUROSCIENCE, 2023, 17
  • [37] In vivo histopathological staging in C9orf72-associated ALS: A tract of interest DTI study
    Mueller, Hans-Peter
    Del Tredici, Kelly
    Lule, Dorothee
    Mueller, Kathrin
    Weishaupt, Jochen H.
    Ludolph, Albert C.
    Kassubek, Jan
    NEUROIMAGE-CLINICAL, 2020, 27
  • [38] TDP-43 cytoplasmic inclusion formation in C9orf72-associated FTLD/ALS
    Lee, Samuel
    Asress, Seneshaw
    Hales, Chadwick
    Vizcarra, Juan
    Gutman, David
    Gearing, Marla
    Chin, Lih-Shen
    Li, Lian
    Glass, Jonathan
    NEUROLOGY, 2019, 92 (15)
  • [39] ZNF598 co-translationally titrates poly(GR) protein implicated in the pathogenesis of C9ORF72-associated ALS/FTD
    Park, Jumin
    Lee, Jongbo
    Kim, Ji-hyung
    Lee, Jongbin
    Park, Heeju
    Lim, Chunghun
    NUCLEIC ACIDS RESEARCH, 2021, 49 (19) : 11294 - 11311
  • [40] Realizing the gains and losses in C9ORF72 ALS/FTD
    Cathleen Lutz
    Nature Neuroscience, 2020, 23 : 596 - 597