C9orf72 repeat expansions in patients with ALS and FTD

被引：35

作者：

Rademakers, Rosa ^{[1
]}

机构：

[1] Mayo Clin, Dept Neurosci, Jacksonville, FL 32224 USA

来源：

LANCET NEUROLOGY | 2012年 / 11卷 / 04期

关键词：

AMYOTROPHIC-LATERAL-SCLEROSIS; FRONTOTEMPORAL DEMENTIA; HEXANUCLEOTIDE REPEAT; DISEASE; LOCUS;

D O I：

10.1016/S1474-4422(12)70046-7

中图分类号：

R74 [神经病学与精神病学];

学科分类号：

摘要：

引用

页码：297 / 298

页数：2

共 10 条

[1]

Byrne S, 2012, LANCET NEUROL, V11, P232, DOI 10.1016/S1474-4422(12)70014-5

[2] Expanded GGGGCC Hexanucleotide Repeat in Noncoding Region of C9ORF72 Causes Chromosome 9p-Linked FTD and ALS [J].

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 .

NEURON, 2011, 72 (02) :245-256

[3] Frequency of the C9orf72 hexanucleotide repeat expansion in patients with amyotrophic lateral sclerosis and frontotemporal dementia: a cross-sectional study [J].

Majounie, Elisa ;

Renton, Alan E. ;

Mok, Kin ;

Dopper, Elise G. P. ;

Waite, Adrian ;

Rollinson, Sara ;

Chio, Adrian ;

Restagno, Gabriella ;

Nicolaou, Nayia ;

Simon-Sanchez, Javier ;

van Swieten, John C. ;

Abramzon, Yevgeniya ;

Johnson, Janel O. ;

Sendtner, Michael ;

Pamphlett, Roger ;

Orrell, Richard W. ;

Mead, Simon ;

Sidle, Katie C. ;

Houlden, Henry ;

Rohrer, Jonathan D. ;

Morrison, Karen E. ;

Pall, Hardev ;

Talbot, Kevin ;

Ansorge, Olaf ;

Hernandez, Dena G. ;

Arepalli, Sampath ;

Sabatelli, Mario ;

Mora, Gabriele ;

Corbo, Massimo ;

Giannini, Fabio ;

Calvo, Andrea ;

Englund, Elisabet ;

Borghero, Giuseppe ;

Foris, Gian Luca ;

Remes, Anne M. ;

Laaksovirta, Hannu ;

McCluskey, Leo ;

Trojanowski, John Q. ;

Van Deerlin, Vivianna M. ;

Schellenberg, Gerard D. ;

Nalls, Michael A. ;

Drory, Vivian E. ;

Lu, Chin-Song ;

Yeh, Tu-Hsueh ;

Ishiura, Hiroyuki ;

Takahashi, Yuji ;

Tsuji, Shoji ;

Le Ber, Isabelle ;

Brice, Alexis ;

Drepper, Carsten .

LANCET NEUROLOGY, 2012, 11 (04) :323-330

[4] Repeat Expansion in C9ORF72 in Alzheimer's Disease [J].

Majounie, Elisa ;

Abramzon, Yevgeniya ;

Renton, Alan E. ;

Perry, Rodney ;

Bassett, Susan S. ;

Pletnikova, Olga ;

Troncoso, Juan C. ;

Hardy, John ;

Singleton, Andrew B. ;

Traynor, Bryan J. .

NEW ENGLAND JOURNAL OF MEDICINE, 2012, 366 (03) :283-284

[5] The chromosome 9 ALS and FTD locus is probably derived from a single founder [J].

Mok, Kin ;

Traynor, Bryan J. ;

Schymick, Jennifer ;

Tienari, Pentti J. ;

Laaksovirta, Hannu ;

Peuralinna, Terhi ;

Myllykangas, Liisa ;

Chio, Adriano ;

Shatunov, Aleksey ;

Boeve, Bradley F. ;

Boxer, Adam L. ;

DeJesus-Hernandez, Mariely ;

Mackenzie, Ian R. ;

Waite, Adrian ;

Williams, Nigel ;

Morris, Huw R. ;

Simon-Sanchez, Javier ;

van Swieten, John C. ;

Heutink, Peter ;

Restagno, Gabriella ;

Mora, Gabriele ;

Morrison, Karen E. ;

Shaw, Pamela J. ;

Rollinson, Pamela Sara ;

Al-Chalabi, Ammar ;

Rademakers, Rosa ;

Pickering-Brown, Stuart ;

Orrell, Richard W. ;

Nalls, Michael A. ;

Hardy, John .

NEUROBIOLOGY OF AGING, 2012, 33 (01) :209.e3-209.e8

[6] A locus on chromosome 9p confers susceptibility to ALS and frontotemporal dementia [J].

Morita, M ;

Al-Chalabi, A ;

Andersen, PM ;

Hosler, B ;

Sapp, P ;

Englund, E ;

Mitchell, JE ;

Habgood, JJ ;

de Belleroche, J ;

Xi, J ;

Brown, RH .

NEUROLOGY, 2006, 66 (06) :839-844

[7] Clinical and neuropathologic heterogeneity of c9FTD/ALS associated with hexanucleotide repeat expansion in C9ORF72 [J].

Murray, Melissa E. ;

DeJesus-Hernandez, Mariely ;

Rutherford, Nicola J. ;

Baker, Matt ;

Duara, Ranjan ;

Graff-Radford, Neill R. ;

Wszolek, Zbigniew K. ;

Ferman, Tanis J. ;

Josephs, Keith A. ;

Boylan, Kevin B. ;

Rademakers, Rosa ;

Dickson, Dennis W. .

ACTA NEUROPATHOLOGICA, 2011, 122 (06) :673-690

[8] A Hexanucleotide Repeat Expansion in C9ORF72 Is the Cause of Chromosome 9p21-Linked ALS-FTD [J].

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

[9] Recent advances in the genetics of amyotrophic lateral sclerosis and frontotemporal dementia: common pathways in neurodegenerative disease [J].

Talbot, Kevin ;

Ansorge, Olaf .

HUMAN MOLECULAR GENETICS, 2006, 15 :R182-R187

[10] Familial amyotrophic lateral sclerosis with frontotemporal dementia is linked to a locus on chromosome 9p13.2-21.3 [J].

Vance, C ;

Al-Chalabi, A ;

Ruddy, D ;

Smith, BN ;

Hu, X ;

Sreedharan, J ;

Siddique, T ;

Schelhaas, HJ ;

Kusters, B ;

Troost, D ;

Baas, F ;

de Jong, V ;

Shaw, CE .

BRAIN, 2006, 129 :868-876

← 1 →