Meta-analysis of the association between C9orf72 repeats and neurodegeneration diseases

References

• Akimoto, C., Forsgren, L., Linder, J., Birve, A., Backlund, I., Andersson, J., Nilsson, A. C., Alstermark, H., & Andersen, P. M. (2013a). No GGGGCC-hexanucleotide repeat expansion in C9ORF72 in parkinsonism patients in Sweden. Amyotrophic Lateral Sclerosis & Frontotemporal Degeneration, 14(1), 26–29. https://doi.org/10.3109/17482968.2012.725415
   PubMed Web of Science ®Google Scholar
• Akimoto, C., Forsgren, L., Linder, J., Birve, A., Backlund, I., Andersson, J., Nilsson, A. C., Alstermark, H., & Andersen, P. M. (2013b). No GGGGCC-hexanucleotide repeat expansion in C9ORF72 in parkinsonism patients in Sweden [Article. Amyotrophic Lateral Sclerosis & Frontotemporal Degeneration, 14(1), 26–29. https://doi.org/10.3109/17482968.2012.725415
   PubMed Web of Science ®Google Scholar
• Beck, J., Poulter, M., Hensman, D., Rohrer, J. D., Mahoney, C. J., Adamson, G., Campbell, T., Uphill, J., Borg, A., Fratta, P., Orrell, R. W., Malaspina, A., Rowe, J., Brown, J., Hodges, J., Sidle, K., Polke, J. M., Houlden, H., Schott, J. M., … Mead, S. (2013). Large C9orf72 hexanucleotide repeat expansions are seen in multiple neurodegenerative syndromes and are more frequent than expected in the UK population. American Journal of Human Genetics, 92(3), 345–353. https://doi.org/10.1016/j.ajhg.2013.01.011
   PubMed Web of Science ®Google Scholar
• Boeve, B. F., Boylan, K. B., Graff-Radford, N. R., DeJesus-Hernandez, M., Knopman, D. S., Pedraza, O., Vemuri, P., Jones, D., Lowe, V., Murray, M. E., Dickson, D. W., Josephs, K. A., Rush, B. K., Machulda, M. M., Fields, J. A., Ferman, T. J., Baker, M., Rutherford, N. J., Adamson, J., … Rademakers, R. (2012). Characterization of frontotemporal dementia and/or amyotrophic lateral sclerosis associated with the GGGGCC repeat expansion in C9ORF72. Brain: A Journal of Neurology, 135(Pt 3), 765–783. https://doi.org/10.1093/brain/aws004
   PubMedGoogle Scholar
• Cacace, R., Van Cauwenberghe, C., Bettens, K., Gijselinck, I., van der Zee, J., Engelborghs, S., Vandenbulcke, M., Van Dongen, J., Bäumer, V., Dillen, L., Mattheijssens, M., Peeters, K., Cruts, M., Vandenberghe, R., De Deyn, P. P., Van Broeckhoven, C., & Sleegers, K. (2013). C9orf72 G4C2 repeat expansions in Alzheimer’s disease and mild cognitive impairment [Article]. Neurobiology of Aging, 34(6), 1712.e1711–1712.e1717. https://doi.org/10.1016/j.neurobiolaging.2012.12.019
   Web of Science ®Google Scholar
• Cali, C. P., Patino, M., Tai, Y. K., Ho, W. Y., McLean, C. A., Morris, C. M., Seeley, W. W., Miller, B. L., Gaig, C., Vonsattel, J. P. G., White, C. L., 3rd, Roeber, S., Kretzschmar, H., Troncoso, J. C., Troakes, C., Gearing, M., Ghetti, B., Van Deerlin, V. M., Lee, V. M., … Lee, E. B. (2019). C9orf72 intermediate repeats are associated with corticobasal degeneration, increased C9orf72 expression and disruption of autophagy. European Journal of Neurology, 138(5), 795–811. https://doi.org/10.1111/ene.1341210.1007/s00401-019-02045-5
   Google Scholar
• Chen, P. L., Cheng, S. J., Chen, P. H., Le Ber, I., Camuzat, A., Guillot-Noel, L., Hannequin, D., Lacomblez, L., Golfier, V., Puel, M., Martinaud, O., Deramecourt, V., Rivaud-Pechoux, S., Millecamps, S., Vercelletto, M., Couratier, P., Sellal, F., Pasquier, F., Salachas, F., … Brice, A. (2013). C9ORF72 repeat expansions in the frontotemporal dementias spectrum of diseases: a flow-chart for genetic testing. BMC Neurology, 34(2), 485–499. https://doi.org/10.1186/s12883-017-0966-310.3233/jad-121456
   Google Scholar
• Chen, X., Chen, Y., Wei, Q., Ou, R., Cao, B., Zhao, B., & Shang, H. F. (2016). C9ORF72 repeat expansions in Chinese patients with Parkinson’s disease and multiple system atrophy. Journal of Neural Transmission (Vienna, Austria: 1996), 123(11), 1341–1345. https://doi.org/10.1007/s00702-016-1598-2
   PubMed Web of Science ®Google Scholar
• Daoud, H., Noreau, A., Rochefort, D., Paquin-Lanthier, G., Gauthier, M. T., Provencher, P., Pourcher, E., Dupré, N., Chouinard, S., Jodoin, N., Soland, V., Fon, E. A., Dion, P. A., & Rouleau, G. A. (2013). Investigation of C9orf72 repeat expansions in Parkinson’s disease. Neurobiology of Aging., 34(6), 1710.e7–e1717. 1719. https://doi.org/10.1016/j.neurobiolaging.2012.11.025
   PubMed Web of Science ®Google Scholar
• Dejesus-Hernandez, M., Rayaprolu, S., Soto-Ortolaza, A. I., Rutherford, N. J., Heckman, M. G., Traynor, S., Strongosky, A., Graff-Radford, N., Van Gerpen, J., Uitti, R. J., Shih, J. J., Lin, S. C., Wszolek, Z. K., Rademakers, R., & Ross, O. A. (2013). Analysis of the C9orf72 repeat in Parkinson’s disease, essential tremor and restless legs syndrome. Parkinsonism & Related Disorders, 19(2), 198–201. https://doi.org/10.1016/j.parkreldis.2012.09.013
   PubMed Web of Science ®Google Scholar
• Fedotova, E., Abramycheva, N., Stepanova, M., Lysogorskaya, E., & Illarioshkin, S. (2014). C9orf72 expansion mutation in patients with different neurodegenerative disorders in Russian population [Conference Abstract]. American Journal of Neurodegenerative Diseases, 3, 269. https://embase.com/search/results?subaction=viewrecord&from=export&id=L72113212 http://rd8hp6du2b.search.serialssolutions.com?sid=EMBASE&issn=2165591X&id=doi:&atitle=C9orf72+expansion+mutation+in+patients+with+different+neurodegenerative+disorders+in+Russian+population&stitle=Am.+J.+Neurodegenerative+Dis.&title=American+Journal+of+Neurodegenerative+Diseases&volume=3&issue=&spage=269&epage=&aulast=Fedotova&aufirst=Ekaterina&auinit=E.&aufull=Fedotova+E.&coden=&isbn=&pages=269-&date=2014&auinit1=E&auinitm=
   Google Scholar
• Galimberti, D., Fenoglio, C., Serpente, M., Villa, C., Bonsi, R., Arighi, A., Fumagalli, G. G., Del Bo, R., Bruni, A. C., Anfossi, M., Clodomiro, A., Cupidi, C., Nacmia, B., Sorbi, S., Piaceri, I., Bagnoli, S., Bessi, V., Marcone, A., Cerami, C., … Scarpini, E. (2013). Autosomal dominant frontotemporal lobar degeneration due to the C9ORF72 hexanucleotide repeat expansion: Late-onset psychotic clinical presentation [Conference Abstract. ]. Clinical Neuropathology, 32(3), 225. https://www.embase.com/search/results?subaction=viewrecord&id=L71530300&from=export
   Google Scholar
• Harms, M., Benitez, B. A., Cairns, N., Cooper, B., Cooper, P., Mayo, K., Carrell, D., Faber, K., Williamson, J., Bird, T., Diaz-Arrastia, R., Foroud, T. M., Boeve, B. F., Graff-Radford, N. R., Mayeux, R., Chakraverty, S., Goate, A. M., & Cruchaga, C., NIA-LOAD/NCRAD Family Study Consortium (2013). C9orf72 hexanucleotide repeat expansions in clinical Alzheimer disease [Article. JAMA Neurology, 70(6), 736–741. https://doi.org/10.1001/2013.jamaneurol.537
   PubMed Web of Science ®Google Scholar
• Harms, M. B., Neumann, D., Benitez, B. A., Cooper, B., Carrell, D., Racette, B. A., Perlmutter, J. S., Goate, A., & Cruchaga, C. (2013). Parkinson disease is not associated with C9ORF72 repeat expansions. Neurobiology of Aging, 34(5), 1519.e1511–1519.e2. https://doi.org/10.1016/j.neurobiolaging.2012.10.001
   Web of Science ®Google Scholar
• Jiao, B., Guo, J. F., Wang, Y. Q., Yan, X. X., Zhou, L., Liu, X. Y., Zhang, F. F., Zhou, Y. F., Xia, K., Tang, B. S., & Shen, L. (2013). C9orf72 mutation is rare in Alzheimer’s disease, Parkinson’s disease, and essential tremor in China. Frontiers in Cellular Neuroscience, 7, 164. https://doi.org/10.3389/fncel.2013.00164
   PubMed Web of Science ®Google Scholar
• Jiao, B., Tang, B., Liu, X., Xu, J., Wang, Y., Zhou, L., Zhang, F., Yan, X., Zhou, Y., & Shen, L. (2014). Mutational analysis in early-onset familial Alzheimer’s disease in Mainland China. Neurobiology of Aging, 35(8), 1957.e1951–1957.e6. https://doi.org/10.1016/j.neurobiolaging.2014.02.014
   Web of Science ®Google Scholar
• Keogh, M. J., Wei, W., Wilson, I., Coxhead, J., Ryan, S., Rollinson, S., Griffin, H., Kurzawa-Akanbi, M., Santibanez-Koref, M., Talbot, K., Turner, M. R., McKenzie, C. A., Troakes, C., Attems, J., Smith, C., Al Sarraj, S., Morris, C. M., Ansorge, O., Pickering-Brown, S., Ironside, J. W., & Chinnery, P. F. (2017). Genetic compendium of 1511 human brains available through the UK Medical Research Council Brain Banks Network Resource. Genome Research, 27(1), 165–173. https://doi.org/10.1101/gr.210609.116
   PubMed Web of Science ®Google Scholar
• Kohli, M. A., John-Williams, K., Rajbhandary, R., Naj, A., Whitehead, P., Hamilton, K., Carney, R. M., Wright, C., Crocco, E., Gwirtzman, H. E., Lang, R., Beecham, G., Martin, E. R., Gilbert, J., Benatar, M., Small, G. W., Mash, D., Byrd, G., Haines, J. L., Pericak-Vance, M. A., & Züchner, S. (2013). Repeat expansions in the C9ORF72 gene contribute to Alzheimer’s disease in Caucasians. Neurobiology of Aging., 34(5), 1519.e1515–1519.e12. https://doi.org/10.1016/j.neurobiolaging.2012.10.003
   Web of Science ®Google Scholar
• Lesage, S., Le Ber, I., Condroyer, C., Broussolle, E., Gabelle, A., Thobois, S., Pasquier, F., Mondon, K., Dion, P. A., Rochefort, D., Rouleau, G. A., Dürr, A., & Brice, A., French Parkinson’s Disease Genetics Study Group (2013). C9orf72 repeat expansions are a rare genetic cause of parkinsonism. Brain: a Journal of Neurology, 136(Pt 2), 385–391. https://doi.org/10.1093/brain/aws357
   PubMedGoogle Scholar
• Lin, C. H., Chen, T. F., Chiu, M. J., Lin, H. I., & Wu, R. M. (2014). Lack of c9orf72 repeat expansion in taiwanese patients with mixed neurodegenerative disorders. Frontiers in Neurology, 5, 59. https://doi.org/10.3389/fneur.2014.00059
   PubMed Web of Science ®Google Scholar
• Majounie, E., Abramzon, Y., Renton, A. E., Perry, R., Bassett, S. S., Pletnikova, O., Troncoso, J. C., Hardy, J., Singleton, A. B., & Traynor, B. J. (2012). Repeat expansion in C9ORF72 in Alzheimer’s disease [Letter. The New England Journal of Medicine, 366(3), 283–284. https://doi.org/10.1056/NEJMc1113592
   PubMed Web of Science ®Google Scholar
• Mukherjee, O., Das, G., Sen, S., Dutt, A., Alladi, S., & Ghosh, A. (2015). C9orf72 mutations may be rare in frontotemporal lobar degeneration patients in India [Article. Amyotrophic Lateral Sclerosis & Frontotemporal Degeneration, 17(1-2), 151–153. https://doi.org/10.3109/21678421.2015.1074706
   PubMed Web of Science ®Google Scholar
• Nuytemans, K., Bademci, G., Kohli, M. M., Beecham, G. W., Wang, L., Young, J. I., Nahab, F., Martin, E. R., Gilbert, J. R., Benatar, M., Haines, J. L., Scott, W. K., Züchner, S., Pericak-Vance, M. A., & Vance, J. M. (2013). C9ORF72 intermediate repeat copies are a significant risk factor for Parkinson disease. Annals of Human Genetics, 77(5), 351–363. https://doi.org/10.1111/ahg.12033
   PubMedGoogle Scholar
• Ogaki, K., Li, Y., Takanashi, M., Ishikawa, K., Kobayashi, T., Nonaka, T., Hasegawa, M., Kishi, M., Yoshino, H., Funayama, M., Tsukamoto, T., Shioya, K., Yokochi, M., Imai, H., Sasaki, R., Kokubo, Y., Kuzuhara, S., Motoi, Y., Tomiyama, H., & Hattori, N. (2013). Analyses of the MAPT, PGRN, and C9orf72 mutations in Japanese patients with FTLD, PSP, and CBS. Parkinsonism & Related Disorders, 19(1), 15–20. https://doi.org/10.1371/journal.pone.015385210.1016/j.parkreldis.2012.06.019
   PubMed Web of Science ®Google Scholar
• Rhinn, H., Tatton, N., McCaughey, S., Kurnellas, M., & Rosenthal, A. (2022). Progranulin as a therapeutic target in neurodegenerative diseases. Trends in Pharmacological Sciences, 43(8), 641–652. https://doi.org/10.1016/j.tips.2021.11.015
   PubMed Web of Science ®Google Scholar
• Rollinson, S., Halliwell, N., Young, K., Callister, J. B., Toulson, G., Gibbons, L., Davidson, Y. S., Robinson, A. C., Gerhard, A., Richardson, A., Neary, D., Snowden, J., Mann, D. M., & Pickering-Brown, S. M. (2012). Analysis of the hexanucleotide repeat in C9ORF72 in Alzheimer’s disease. Neurobiology of Aging., 33(8), 1846.e5–e1845. 1846. https://doi.org/10.1016/j.neurobiolaging.2012.01.109
   PubMed Web of Science ®Google Scholar
• Schottlaender, L. V., Polke, J. M., Ling, H., MacDoanld, N. D., Tucci, A., Nanji, T., Pittman, A., de Silva, R., Holton, J. L., Revesz, T., Sweeney, M. G., Singleton, A. B., Lees, A. J., Bhatia, K. P., & Houlden, H. (2015). The analysis of C9orf72 repeat expansions in a large series of clinically and pathologically diagnosed cases with atypical parkinsonism [Article]. Neurobiology of Aging, 36(2), 1221.e1221–1221.e1226. https://doi.org/10.1016/j.neurobiolaging.2014.08.024
   Web of Science ®Google Scholar
• Shi, Z., Liu, S., Xiang, L., Wang, Y., Liu, M., Liu, S., Han, T., Zhou, Y., Wang, J., Cai, L., Gao, S., & Ji, Y. (2016). Frontotemporal dementia-related gene mutations in clinical dementia patients from a Chinese population [Article]. Journal of Human Genetics, 61(12), 1003–1008. https://doi.org/10.1038/jhg.2016.92
   PubMed Web of Science ®Google Scholar
• Shu, L., Sun, Q., Zhang, Y., Xu, Q., Guo, J., Yan, X., & Tang, B. (2016). The association between C9orf72 repeats and risk of Alzheimer’s disease and amyotrophic lateral sclerosis: A meta-analysis. Parkinson’s Disease, 2016, 5731734. https://doi.org/10.1155/2016/5731734
   PubMed Web of Science ®Google Scholar
• Tran, H., Moazami, M. P., Yang, H., McKenna-Yasek, D., Douthwright, C. L., Pinto, C., Metterville, J., Shin, M., Sanil, N., Dooley, C., Puri, A., Weiss, A., Wightman, N., Gray-Edwards, H., Marosfoi, M., King, R. M., Kenderdine, T., Fabris, D., Bowser, R., Watts, J. K., & Brown, R. H. Jr. (2022). Suppression of mutant C9orf72 expression by a potent mixed backbone antisense oligonucleotide. Nature Medicine, 28(1), 117–124. https://doi.org/10.1038/s41591-021-01557-6
   PubMed Web of Science ®Google Scholar
• van der Zee, J., Gijselinck, I., Dillen, L., Van Langenhove, T., Theuns, J., Engelborghs, S., Philtjens, S., Vandenbulcke, M., Sleegers, K., Sieben, A., Bäumer, V., Maes, G., Corsmit, E., Borroni, B., Padovani, A., Archetti, S., Perneczky, R., Diehl-Schmid, J., de Mendonça, A., … Cras, P., European Early-Onset Dementia Consortium (2013). A Pan-European Study of the C9orf72 repeat associated with FTLD: Geographic prevalence, genomic instability, and intermediate repeats. Human Mutation, 34(2), 363–373. https://doi.org/10.1002/humu.22244
   PubMed Web of Science ®Google Scholar
• Wojtas, A., Heggeli, K. A., Finch, N., Baker, M., Dejesus-Hernandez, M., Younkin, S. G., Dickson, D. W., Graff-Radford, N. R., & Rademakers, R. (2012). C9ORF72 repeat expansions and other FTD gene mutations in a clinical AD patient series from Mayo Clinic. American Journal of Neurodegenerative Disease, 1(1), 107–118.
   PubMedGoogle Scholar
• Xi, Z., Zinman, L., Grinberg, Y., Moreno, D., Sato, C., Bilbao, J. M., Ghani, M., Hernández, I., Ruiz, A., Boada, M., Morón, F. J., Lang, A. E., Marras, C., Bruni, A., Colao, R., Maletta, R. G., Puccio, G., Rainero, I., Pinessi, L., … Rogaeva, E. (2012). Investigation of c9orf72 in 4 neurodegenerative disorders. Archives of Neurology, 69(12), 1583–1590. https://doi.org/10.1001/archneurol.2012.2016
   PubMedGoogle Scholar