How do C9ORF72 repeat expansions cause amyotrophic lateral sclerosis and frontotemporal dementia

Current Opinion in Neurology - Tập 25 Số 6 - Trang 689-700 - 2012
Marka van Blitterswijk1,2, Mariely DeJesus‐Hernandez1,2, Rosa Rademakers1,2,3,4,5
1Department of Neuroscience Mayo Clinic Jacksonville Florida USA
2Supplemental digital content is available for this article. Direct URL citations appear in the printed text and are provided in the HTML and PDF versions of this article on the journal's Website (www.co-neurology.com).
3e-mail: [email protected]
4fax: +1 904 953 7370
5to Rosa Rademakers, PhD, Department of Neuroscience, Mayo Clinic, 4500 San Pablo Road, Jacksonville, FL 32224, USA. Tel: +1 904 953 6279

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Kiernan, 2011, Lancet, 377, 942, 10.1016/S0140-6736(10)61156-7

Graff-Radford, 2007, Semin Neurol, 27, 48, 10.1055/s-2006-956755

Rascovsky, 2011, Brain, 134, 2456, 10.1093/brain/awr179

Gorno-Tempini, 2011, Neurology, 76, 1006, 10.1212/WNL.0b013e31821103e6

, 1994, J Neurol Neurosurg Psychiatry, 57, 416, 10.1136/jnnp.57.4.416

Ferrari, 2011, Curr Alzheimer Res, 8, 273, 10.2174/156720511795563700

Fecto, 2011, J Mol Neurosci, 45, 663, 10.1007/s12031-011-9637-9

Lillo, 2009, J Clin Neurosci, 16, 1131, 10.1016/j.jocn.2009.03.005

Giordana, 2011, Neurol Sci, 32, 9, 10.1007/s10072-010-0439-6

Lomen-Hoerth, 2003, eurology, 60, 1094, 10.1212/01.WNL.0000055861.95202.8D

Phukan, 2007, Lancet Neurol, 6, 994, 10.1016/S1474-4422(07)70265-X

Lomen-Hoerth, 2002, Neurology, 59, 1077, 10.1212/WNL.59.7.1077

Neumann, 2006, Science, 314, 130, 10.1126/science.1134108

Mackenzie, 2009, Acta Neuropathol, 117, 15, 10.1007/s00401-008-0460-5

Andersen, 2011, eurol, 7, 603

Paulson, 2011, Semin Neurol, 31, 449, 10.1055/s-0031-1299784

Gros-Louis, 2006, Biochim Biophys Acta, 1762, 956, 10.1016/j.bbadis.2006.01.004

DeJesus-Hernandez, 2011, Neuron, 72, 245, 10.1016/j.neuron.2011.09.011

Renton, 2011, Neuron, 72, 257, 10.1016/j.neuron.2011.09.010

Boxer, 2011, J Neurol Neurosurg Psychiatry, 82, 196, 10.1136/jnnp.2009.204081

Gijselinck, 2010, Arch Neurol, 67, 606, 10.1001/archneurol.2010.82

Le Ber, 2009, Neurology, 72, 1669, 10.1212/WNL.0b013e3181a55f1c

Luty, 2008, BMC Neurol, 8, 32, 10.1186/1471-2377-8-32

Morita, 2006, Neurology, 66, 839, 10.1212/01.wnl.0000200048.53766.b4

Pearson, 2011, J Neurol, 258, 647, 10.1007/s00415-010-5815-x

Valdmanis, 2007, Arch Neurol, 64, 240, 10.1001/archneur.64.2.240

Vance, 2006, Brain, 129, 868, 10.1093/brain/awl030

Gijselinck, 2012, Lancet Neurol, 11, 54, 10.1016/S1474-4422(11)70261-7

van Blitterswijk, 2012, Hum Mol Genet, 21, 3776, 10.1093/hmg/dds199

Rohrer, 2011, Curr Opin Neurol, 24, 542, 10.1097/WCO.0b013e32834cd442

Seelaar, 2011, J Neurol Neurosurg Psychiatry, 82, 476, 10.1136/jnnp.2010.212225

Lattante, 2012, Neurology, 79, 66, 10.1212/WNL.0b013e31825dceca

Pamphlett, 2012, Neuroreport, 23, 556, 10.1097/WNR.0b013e3283544718

Millecamps, 2012, J Med Genet, 49, 258, 10.1136/jmedgenet-2011-100699

Brettschneider, 2012, Acta Neuropathol, 123, 825, 10.1007/s00401-012-0970-z

Majounie, 2012, Lancet Neurol, 11, 323, 10.1016/S1474-4422(12)70043-1

Khan, 2012, J Neurol Neurosurg Psychiatry, 83, 358, 10.1136/jnnp-2011-301883

Chio, 2012, Brain, 135, 784, 10.1093/brain/awr366

Boeve, 2012, Brain, 135, 765, 10.1093/brain/aws004

Cooper-Knock, 2012, Brain, 135, 751, 10.1093/brain/awr365

Mahoney, 2012, Brain, 135, 736, 10.1093/brain/awr361

Byrne, 2012, Lancet Neurol, 11, 232, 10.1016/S1474-4422(12)70014-5

Simon-Sanchez, 2012, Brain, 135, 723, 10.1093/brain/awr353

Snowden, 2012, Brain, 135, 693, 10.1093/brain/awr355

Stewart, 2012, Acta Neuropathol, 123, 409, 10.1007/s00401-011-0937-5

Al-Sarraj, 2011, Acta Neuropathol, 122, 691, 10.1007/s00401-011-0911-2

Chio, 2012, J Neurol Neurosurg Psychiatry, 83, 730, 10.1136/jnnp-2012-302219

Corrado, 2009, Hum Mutat, 30, 688, 10.1002/humu.20950

van Rheenen, 2012, Neurology, 79, 878, 10.1212/WNL.0b013e3182661d14

Millecamps, 2010, J Med Genet, 47, 554, 10.1136/jmg.2010.077180

Millecamps, 2010, Proc Natl Acad Sci U S A, 107, E107, 10.1073/pnas.1006190107

Kirby, 2010, Neurogenetics, 11, 217, 10.1007/s10048-009-0218-9

Hewitt, 2010, Arch Neurol, 67, 455, 10.1001/archneurol.2010.52

Hsiung, 2012, Brain, 135, 709, 10.1093/brain/awr354

Murray, 2011, Acta Neuropathol, 122, 673, 10.1007/s00401-011-0907-y

Brettschneider, 2012, PLoS One, 7, e39216, 10.1371/journal.pone.0039216

Huisman, 2011, J Neurol Neurosurg Psychiatry, 82, 1165, 10.1136/jnnp.2011.244939

Floris, 2012, eurol, 259, 1749

Arighi, 2012, J Alzheimers Dis, 31, 447, 10.3233/JAD-2012-120523

Wallon, 2012, J Alzheimers Dis, 32, 19, 10.3233/JAD-2012-120877

Majounie, 2012, N Engl J Med, 366, 283, 10.1056/NEJMc1113592

Rademakers, 2012, Nat Rev Neurol, 8, 423, 10.1038/nrneurol.2012.117

Troakes, 2012, Neuropathology, 32, 505, 10.1111/j.1440-1789.2011.01286.x

La Spada, 2010, Nat Rev Genet, 11, 247, 10.1038/nrg2748

Sato, 2009, Am J Hum Genet, 85, 544, 10.1016/j.ajhg.2009.09.019

Kobayashi, 2011, Am J Hum Genet, 89, 121, 10.1016/j.ajhg.2011.05.015

Todd, 2010, Ann Neurol, 67, 291, 10.1001/archneurol.2010.3

Paulson, 2009, J Neuroophthalmol, 29, 227, 10.1097/WNO0b013e3181b416de

Durr, 2010, Lancet Neurol, 9, 885, 10.1016/S1474-4422(10)70183-6

Verbeek, 2011, Semin Neurol, 31, 461, 10.1055/s-0031-1299785

Seidel, 2012, Acta Neuropathol, 124, 1, 10.1007/s00401-012-1000-x

Whaley, 2011, Orphanet J Rare Dis, 6, 33, 10.1186/1750-1172-6-33

Finsterer, 2009, Eur J Neurol, 16, 556, 10.1111/j.1468-1331.2009.02591.x

Brais, 2003, Cytogenet Genome Res, 100, 252, 10.1159/000072861

Gusella, 1993, Arch Neurol, 50, 1157, 10.1001/archneur.1993.00540110037003

Li, 2010, Trends Neurosci, 33, 292, 10.1016/j.tins.2010.03.004

Palazzolo, 2008, J Steroid Biochem Mol Biol, 108, 245, 10.1016/j.jsbmb.2007.09.016

Ishikawa, 2011, Neurology, 77, 1853, 10.1212/WNL.0b013e3182377e3a

Duyao, 1993, Nat Genet, 4, 387, 10.1038/ng0893-387

Takano, 1998, Am J Hum Genet, 63, 1060, 10.1086/302067

Majounie, 2007, Neurosci Lett, 429, 28, 10.1016/j.neulet.2007.09.055

Cossee, 2011, Am J Med Genet A, 155A, 98, 10.1002/ajmg.a.33785

Gecz, 2006, Curr Opin Genet Dev, 16, 308, 10.1016/j.gde.2006.04.003

Orr, 2007, Annu Rev Neurosci, 30, 575, 10.1146/annurev.neuro.29.051605.113042

Klein, 2011, Biochimie, 93, 2006, 10.1016/j.biochi.2011.06.028

Wheeler, 2007, Curr Opin Neurol, 20, 572, 10.1097/WCO.0b013e3282ef6064

Brook, 1992, Cell, 69, 385

Mahadevan, 1992, Science, 255, 1253, 10.1126/science.1546325

Taneja, 1995, J Cell Biol, 128, 995, 10.1083/jcb.128.6.995

Davis, 1997, Proc Natl Acad Sci U S A, 94, 7388, 10.1073/pnas.94.14.7388

Miller, 2000, EMBO J, 19, 4439, 10.1093/emboj/19.17.4439

White, 2010, PLoS Genet, 6, e1000984, 10.1371/journal.pgen.1000984

Wheeler, 2007, J Clin Invest, 117, 3952

Sellier, 2010, EMBO J, 29, 1248, 10.1038/emboj.2010.21

Rudnicki, 2007, Ann Neurol, 61, 272, 10.1002/ana.21081

Daughters, 2009, PLoS Genet, 5, e1000600, 10.1371/journal.pgen.1000600

Ranum, 2006, Annu Rev Neurosci, 29, 259, 10.1146/annurev.neuro.29.051605.113014

Radvansky, 2010, iomarkers, 14, 733

Martorell, 1998, Hum Mol Genet, 7, 307, 10.1093/hmg/7.2.307

Anvret, 1993, Hum Mol Genet, 2, 1397, 10.1093/hmg/2.9.1397

Lavedan, 1993, Am J Hum Genet, 52, 875

Jansen, 1994, Am J Hum Genet, 54, 575

Thornton, 1994, Ann Neurol, 35, 104, 10.1002/ana.410350116

Monckton, 1995, Hum Mol Genet, 4, 1, 10.1093/hmg/4.1.1

Zatz, 1995, enet, 4, 401

Kinoshita, 1996, Muscle Nerve, 19, 240, 10.1002/(SICI)1097-4598(199602)19:2<240::AID-MUS21>3.0.CO;2-X

Turner, 2010, J Neurol Neurosurg Psychiatry, 81, 358, 10.1136/jnnp.2008.158261

McComas, 1978, J Neurol Neurosurg Psychiatry, 41, 882, 10.1136/jnnp.41.10.882

Harley, 1992, Lancet, 339, 1125, 10.1016/0140-6736(92)90729-M

Martorell, 2001, Neurology, 56, 328, 10.1212/WNL.56.3.328

Korneluk, 1997, Nat Genet, 15, 119, 10.1038/ng0297-119

Zheng, 1993, Proc Natl Acad Sci U S A, 90, 10178, 10.1073/pnas.90.21.10178

Harper, 1992, Am J Hum Genet, 51, 10

Warner, 1996, J Med Genet, 33, 1022, 10.1136/jmg.33.12.1022

Wong, 1995, Am J Hum Genet, 56, 114

Foff, 2011, Muscle Nerve, 44, 160, 10.1002/mus.22090

Blauw, 2012, Hum Mol Genet, 21, 2497, 10.1093/hmg/dds064

Ross, 2011, Hum Mol Genet, 20, 3207, 10.1093/hmg/ddr227

Van Damme, 2011, Neurology, 76, 2066, 10.1212/WNL.0b013e31821f445b

Elden, 2010, Nature, 466, 1069, 10.1038/nature09320