Analysis of the C9orf72 hexanucleotide repeat expansion in Korean patients with familial and sporadic amyotrophic lateral sclerosis

被引：63

作者：

Jang, Ja-Hyun ^{[1
]}

Kwon, Min-Jung ^{[2
]}

Choi, Won Jun ^{[3
,4
]}

Oh, Ki-Wook ^{[3
,4
]}

Koh, Seong-Ho ^{[3
,4
]}

Ki, Chang-Seok ^{[1
]}

Kim, Seung Hyun ^{[3
,4
]}

机构：

[1] Sungkyunkwan Univ, Sch Med, Samsung Med Ctr, Dept Lab Med & Genet, Seoul, South Korea

[2] Sungkyunkwan Univ, Kangbuk Samsung Hosp, Sch Med, Dept Lab Med, Seoul, South Korea

[3] Hanyang Univ, Coll Med, Dept Neurol, Seoul 133791, South Korea

[4] Hanyang Univ Hosp, Cell Therapy Ctr, Seoul, South Korea

来源：

NEUROBIOLOGY OF AGING | 2013年 / 34卷 / 04期

基金：

新加坡国家研究基金会;

关键词：

Amyotrophic lateral sclerosis; C9orf72; Hexanucleotide repeat; Korean; FTD;

D O I：

10.1016/j.neurobiolaging.2012.09.004

中图分类号：

R592 [老年病学]; C [社会科学总论];

学科分类号：

03 ; 0303 ; 100203 ;

摘要：

The expansion of a noncoding hexanucleotide repeat (GGGGCC) in the chromosome 9 open reading frame (C9orf72) gene has been identified as the most common cause of familial and sporadic amyotrophic lateral sclerosis (ALS) in Caucasian populations. The role of the C9orf72 repeat expansion in Korean ALS patients, however, has not been reported. We therefore investigated the frequency of the C9orf72 repeat expansion in 254 Korean patients with familial (n = 8) and sporadic (n = 246) ALS and found that none of the patients had the expansion. The number of hexanucleotide repeats ranged from 2 to 11 in the 254 ALS patients without the expansion. Our results suggest that the C9orf72 repeat expansion is not the main cause of ALS in the Korean population. (C) 2013 Elsevier Inc. All rights reserved.

引用

页码：1311.e7 / 1311.e9

页数：3

共 11 条

[1] Clinico-pathological features in amyotrophic lateral sclerosis with expansions in C9ORF72 [J].

Cooper-Knock, Johnathan ;

Hewitt, Christopher ;

Highley, J. Robin ;

Brockington, Alice ;

Milano, Antonio ;

Man, Somai ;

Martindale, Joanne ;

Hartley, Judith ;

Walsh, Theresa ;

Gelsthorpe, Catherine ;

Baxter, Lynne ;

Forster, Gillian ;

Fox, Melanie ;

Bury, Joanna ;

Mok, Kin ;

McDermott, Christopher J. ;

Traynor, Bryan J. ;

Kirby, Janine ;

Wharton, Stephen B. ;

Ince, Paul G. ;

Hardy, John ;

Shaw, Pamela J. .

BRAIN, 2012, 135 :751-764

[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] A C9orf72 promoter repeat expansion in a Flanders-Belgian cohort with disorders of the frontotemporal lobar degeneration-amyotrophic lateral sclerosis spectrum: a gene identification study [J].

Gijselinck, Ilse ;

Van Langenhove, Tim ;

van der Zee, Julie ;

Sleegers, Kristel ;

Philtjens, Stephanie ;

Kleinberger, Gernot ;

Janssens, Jonathan ;

Bettens, Karolien ;

Van Cauwenberghe, Caroline ;

Pereson, Sandra ;

Engelborghs, Sebastiaan ;

Sieben, Anne ;

De Jonghe, Peter ;

Vandenberghe, Rik ;

Santens, Patrick ;

De Bleecker, Jan ;

Maes, Githa ;

Baumer, Veerle ;

Dillen, Lubina ;

Joris, Geert ;

Cuijt, Ivy ;

Corsmit, Ellen ;

Elinck, Ellen ;

Van Dongen, Jasper ;

Vermeulen, Steven ;

Van den Broeck, Marleen ;

Vaerenberg, Carolien ;

Mattheijssens, Maria ;

Peeters, Karin ;

Robberecht, Wim ;

Cras, Patrick ;

Martin, Jean-Jacques ;

De Deyn, Peter P. ;

Cruts, Marc ;

Van Broeckhoven, Christine .

LANCET NEUROLOGY, 2012, 11 (01) :54-65

[4] Screening of the SOD1, FUS, TARDBP, ANG, and OPTN mutations in Korean patients with familial and sporadic ALS [J].

Kwon, Min-Jung ;

Baek, Wonki ;

Ki, Chang-Seok ;

Kim, Hyun Young ;

Koh, Seong-Ho ;

Kim, Jong-Won ;

Kim, Seung Hyun .

NEUROBIOLOGY OF AGING, 2012, 33 (05)

[5] 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

[6] Analysis of C9orf72 repeat expansion in 563 Japanese patients with amyotrophic lateral sclerosis [J].

Ogaki, Kotaro ;

Li, Yuanzhe ;

Atsuta, Naoki ;

Tomiyama, Hiroyuki ;

Funayama, Manabu ;

Watanabe, Hazuki ;

Nakamura, Ryoichi ;

Yoshino, Hideo ;

Yato, Seiji ;

Tamura, Asako ;

Naito, Yutaka ;

Taniguchi, Akira ;

Fujita, Koji ;

Izumi, Yuishin ;

Kaji, Ryuji ;

Hattori, Nobutaka ;

Sobue, Gen .

NEUROBIOLOGY OF AGING, 2012, 33 (10) :2527.e11-2527.e16

[7] FTD and ALS: Genetic Ties that Bind [J].

Orr, Harry T. .

NEURON, 2011, 72 (02) :189-190

[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] C9ORF72 hexanucleotide repeat expansions in the Italian sporadic ALS population [J].

Sabatelli, Mario ;

Conforti, Francesca Luisa ;

Zollino, Marcella ;

Mora, Gabriele ;

Monsurro, Maria Rosaria ;

Volanti, Paolo ;

Marinou, Kalliopi ;

Salvi, Fabrizio ;

Corbo, Massimo ;

Giannini, Fabio ;

Battistini, Stefania ;

Penco, Silvana ;

Lunetta, Christian ;

Quattrone, Aldo ;

Gambardella, Antonio ;

Logroscino, Giancarlo ;

Simone, Isabella ;

Bartolomei, Ilaria ;

Pisano, Fabrizio ;

Tedeschi, Gioacchino ;

Conte, Amelia ;

Spataro, Rossella ;

La Bella, Vincenzo ;

Caponnetto, Claudia ;

Mancardi, Gianluigi ;

Mandich, Paola ;

Sola, Patrizia ;

Mandrioli, Jessica ;

Renton, Alan E. ;

Majounie, Elisa ;

Abramzon, Yevgeniya ;

Marrosu, Francesco ;

Marrosu, Maria Giovanna ;

Murru, Maria Rita ;

Sotgiu, Maria Alessandra ;

Pugliatti, Maura ;

Rodolico, Carmelo ;

Moglia, Cristina ;

Calvo, Andrea ;

Ossola, Irene ;

Brunetti, Maura ;

Traynor, Bryan J. ;

Borghero, Giuseppe ;

Restagno, Gabriella ;

Chio, Adriano .

NEUROBIOLOGY OF AGING, 2012, 33 (08) :e15-e20

[10]

Ticozzi N, 2011, ARCH ITAL BIOL, V149, P65, DOI 10.4449/aib.v149i1.1262

← 1 2 →