A 30-unit hexanucleotide repeat expansion in C9orf72 induces pathological lesions with dipeptide-repeat proteins and RNA foci, but not TDP-43 inclusions and clinical disease

被引：29
作者：
Gami, Priya [1 ]
Murray, Christina [1 ]
Schottlaender, Lucia [2 ]
Bettencourt, Conceicao [2 ]
Fernandez, Eduardo De Pablo [3 ]
Mudanohwo, Ese [4 ]
Mizielinska, Sarah [5 ]
Polke, James M. [4 ]
Holton, Janice L. [1 ]
Isaacs, Adrian M. [5 ]
Houlden, Henry [2 ]
Revesz, Tamas [1 ]
Lashley, Tammaryn [1 ]
机构：
[1] UCL Inst Neurol, Dept Mol Neurosci, Queen Sq Brain Bank, London WC1N 1PJ, England
[2] UCL Inst Neurol, Dept Mol Neurosci, London WC1N 3BG, England
[3] UCL Inst Neurol, Reta Lila Weston Inst Neurol Studies, London WC1N 1PJ, England
[4] Natl Hosp Neurol & Neurosurg, Neurogenet Unit, London WC1N 3BG, England
[5] UCL Inst Neurol, Dept Neurodegenerat Dis, London WC1N 3BG, England
来源：
ACTA NEUROPATHOLOGICA | 2015年 / 130卷 / 04期
基金：
英国医学研究理事会;
关键词：
FRONTOTEMPORAL DEMENTIA; LATERAL-SCLEROSIS; FTD; ALS;
D O I：
10.1007/s00401-015-1473-5
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：599 / 601
页数：3
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共 12 条
  • [1] Accumulation of dipeptide repeat proteins predates that of TDP-43 in frontotemporal lobar degeneration associated with hexanucleotide repeat expansions in C9ORF72 gene
    Baborie, A.
    Griffiths, T. D.
    Jaros, E.
    Perry, R.
    McKeith, I. G.
    Burn, D. J.
    Masuda-Suzukake, M.
    Hasegawa, M.
    Rollinson, S.
    Pickering-Brown, S.
    Robinson, A. C.
    Davidson, Y. S.
    Mann, D. M. A.
    [J]. NEUROPATHOLOGY AND APPLIED NEUROBIOLOGY, 2015, 41 (05) : 601 - 612
  • [2] Large C9orf72 Hexanucleotide Repeat Expansions Are Seen in Multiple Neurodegenerative Syndromes and Are More Frequent Than Expected in the UK Population
    Beck, Jon
    Poulter, Mark
    Hensman, Davina
    Rohrer, Jonathan D.
    Mahoney, Colin J.
    Adamson, Gary
    Campbell, Tracy
    Uphill, James
    Borg, Aaron
    Fratta, Pietro
    Orrell, Richard W.
    Malaspina, Andrea
    Rowe, James
    Brown, Jeremy
    Hodges, John
    Sidle, Katie
    Polke, James M.
    Houlden, Henry
    Schott, Jonathan M.
    Fox, Nick C.
    Rossor, Martin N.
    Tabrizi, Sarah J.
    Isaacs, Adrian M.
    Hardy, John
    Warren, Jason D.
    Collinge, John
    Mead, Simon
    [J]. AMERICAN JOURNAL OF HUMAN GENETICS, 2013, 92 (03) : 345 - 353
  • [3] Loss of Function of C9orf72 Causes Motor Deficits in a Zebrafish Model of Amyotrophic Lateral Sclerosis
    Ciura, Sorana
    Lattante, Serena
    Le Ber, Isabelle
    Latouche, Morwena
    Tostivint, Herve
    Brice, Alexis
    Kabashi, Edor
    [J]. ANNALS OF NEUROLOGY, 2013, 74 (02) : 180 - 187
  • [4] Expanded GGGGCC Hexanucleotide Repeat in Noncoding Region of C9ORF72 Causes Chromosome 9p-Linked FTD and ALS
    DeJesus-Hernandez, Mariely
    Mackenzie, Ian R.
    Boeve, Bradley F.
    Boxer, Adam L.
    Baker, Matt
    Rutherford, Nicola J.
    Nicholson, Alexandra M.
    Finch, NiCole A.
    Flynn, Heather
    Adamson, Jennifer
    Kouri, Naomi
    Wojtas, Aleksandra
    Sengdy, Pheth
    Hsiung, Ging-Yuek R.
    Karydas, Anna
    Seeley, William W.
    Josephs, Keith A.
    Coppola, Giovanni
    Geschwind, Daniel H.
    Wszolek, Zbigniew K.
    Feldman, Howard
    Knopman, David S.
    Petersen, Ronald C.
    Miller, Bruce L.
    Dickson, Dennis W.
    Boylan, Kevin B.
    Graff-Radford, Neill R.
    Rademakers, Rosa
    [J]. NEURON, 2011, 72 (02) : 245 - 256
  • [5] C9ORF72, implicated in amytrophic lateral sclerosis and frontotemporal dementia, regulates endosomal trafficking
    Farg, Manal A.
    Sundaramoorthy, Vinod
    Sultana, Jessica M.
    Yang, Shu
    Atkinson, Rachel A. K.
    Levina, Vita
    Halloran, Mark A.
    Gleeson, Paul A.
    Blair, Ian P.
    Soo, Kai Y.
    King, Anna E.
    Atkin, Julie D.
    [J]. HUMAN MOLECULAR GENETICS, 2014, 23 (13) : 3579 - 3595
  • [6] pathogenic progranulin mutation and C9orf72 repeat expansion in a family with frontotemporal dementia
    Lashley, T.
    Rohrer, J. D.
    Mahoney, C.
    Gordon, E.
    Beck, J.
    Mead, S.
    Warren, J.
    Rossor, M.
    Revesz, T.
    [J]. NEUROPATHOLOGY AND APPLIED NEUROBIOLOGY, 2014, 40 (04) : 502 - 513
  • [7] Early dipeptide repeat pathology in a frontotemporal dementia kindred with C9ORF72 mutation and intellectual disability
    Proudfoot, Malcolm
    Gutowski, Nick J.
    Edbauer, Dieter
    Hilton, David A.
    Stephens, Mark
    Rankin, Julia
    Mackenzie, Ian R. A.
    [J]. ACTA NEUROPATHOLOGICA, 2014, 127 (03) : 451 - 458
  • [8] 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
    [J]. NEURON, 2011, 72 (02) : 257 - 268
  • [9] C9orf72 expansions in frontotemporal dementia and amyotrophic lateral sclerosis
    Rohrer, Jonathan D.
    Isaacs, Adrian M.
    Mizlienska, Sarah
    Mead, Simon
    Lashley, Tammaryn
    Wray, Selina
    Sidle, Katie
    Fratta, Pietro
    Orrell, Richard W.
    Hardy, John
    Holton, Janice
    Revesz, Tamas
    Rossor, Martin N.
    Warren, Jason D.
    [J]. LANCET NEUROLOGY, 2015, 14 (03) : 291 - 301
  • [10] The clinical and pathological phenotype of C9ORF72 hexanucleotide repeat expansions
    Simon-Sanchez, Javier
    Dopper, Elise G. P.
    Cohn-Hokke, Petra E.
    Hukema, Renate K.
    Nicolaou, Nayia
    Seelaar, Harro
    de Graaf, J. Roos A.
    de Koning, Inge
    van Schoor, Natasja M.
    Deeg, Dorly J. H.
    Smits, Marion
    Raaphorst, Joost
    van den Berg, Leonard H.
    Schelhaas, Helenius J.
    De Die-Smulders, Christine E. M.
    Majoor-Krakauer, Danielle
    Rozemuller, Annemieke J. M.
    Willemsen, Rob
    Pijnenburg, Yolande A. L.
    Heutink, Peter
    van Swieten, John C.
    [J]. BRAIN, 2012, 135 : 723 - 735
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