C9orf72 expansions are the most common genetic cause of Huntington disease phenocopies
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OBJECTIVE: In many cases where Huntington disease (HD) is suspected, the genetic test for HD is negative: these are known as HD phenocopies. A repeat expansion in the C9orf72 gene has recently been identified as a major cause of familial and sporadic frontotemporal lobar degeneration and amyotrophic lateral sclerosis. Our objective was to determine whether this mutation causes HD phenocopies. METHODS: A cohort of 514 HD phenocopy patients were analyzed for the C9orf72 expansion using repeat primed PCR. In cases where the expansion was found, Southern hybridization was performed to determine expansion size. Clinical case notes were reviewed to determine the phenotype of expansion-positive cases. RESULTS: Ten subjects (1.95%) had the expansion, making it the most common identified genetic cause of HD phenocopy presentations. The size of expansion was not significantly different from that associated with other clinical presentations of C9orf72 expanded cases. The C9orf72 expansion-positive subjects were characterized by the presence of movement disorders, including dystonia, chorea, myoclonus, tremor, and rigidity. Furthermore, the age at onset in this cohort was lower than previously reported for subjects with the C9orf72 expansion and included one case with pediatric onset. DISCUSSION: This study extends the known phenotype of the C9orf72 expansion in both age at onset and movement disorder symptoms. We propose a revised clinico-genetic algorithm for the investigation of HD phenocopy patients based on these data.
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C9orf72 expansion mutations are associated with ALS/FTLD and also with symptoms reminiscent of Parkinson disease, Alzheimer disease, Huntington disease, and corticobasal syndrome.
“For instance, C9orf72 expansion mutations are associated not only with ALS/FTLD, but also with symptoms reminiscent of Parkinson disease, Alzheimer disease, Huntington disease, and corticobasal syndrome, reinforcing the imperfect connection between clinical and molecular phenotypes and emphasizing the need for molecular diagnostics [155–164].”
From Autophagy and ALS: mechanistic insights and therapeutic implications (2022) · cites this paper as [164]
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MACDONALD, M. (1993) · Cell · doi:10.1016/0092-8674(93)90585-e · Cited by 8,366 · see citing works
DeJesus-Hernandez, M., Mackenzie, I. R., Boeve, B. F., Boxer, A. L., Baker, M., Rutherford, N. J., Nicholson, A. M., Finch, N. A., Flynn, H., Adamson, J., et al. (2011) · Neuron · doi:10.1016/j.neuron.2011.09.011 · Cited by 4,936 · see citing works
A Hexanucleotide Repeat Expansion in C9ORF72 Is the Cause of Chromosome 9p21-Linked ALS-FTD
Renton, A. E., Majounie, E., Waite, A., Simón-Sánchez, J., Rollinson, S., Gibbs, J. R., Schymick, J. C., Laaksovirta, H., van Swieten, J. C., Myllykangas, L., et al. (2011) · Neuron · doi:10.1016/j.neuron.2011.09.010 · Cited by 4,409 · see citing works
Shah, M. A., Datson, N. A., Srinidhi, L., Stanton, V. P., MacDonald, M. E., Allard, M. W., Youngman, S., Am, F., Mott, R., Draths, K., et al. (1993) · Cell · Cited by 3,055 · see citing works
The C9orf72 GGGGCC Repeat Is Translated into Aggregating Dipeptide-Repeat Proteins in FTLD/ALS
Mori, K., Weng, S., Arzberger, T., May, S., Rentzsch, K., Kremmer, E., Schmid, B., Kretzschmar, H. A., Cruts, M., Broeckhoven, C. V., et al. (2013) · Science · doi:10.1126/science.1232927 · Cited by 1,248 · see citing works
Ash, P. E. A., Bieniek, K. F., Gendron, T. F., Caulfield, T. R., Lin, W.-L., DeJesus‐Hernandez, M., van Blitterswijk, M., Jansen‐West, K. R., Paul, J. W., Rademakers, R., et al. (2013) · Neuron · doi:10.1016/j.neuron.2013.02.004 · Cited by 1,079 · see citing works
Mahoney, C., Beck, J. A., Rohrer, J. D., Lashley, T., Mok, K. Y., Shakespeare, T. J., Yeatman, T., Warrington, E. K., Schott, J. M., Fox, N. C., et al. (2012) · Brain · doi:10.1093/brain/awr361 · Cited by 431 · see citing works
Self-citationComparison of family histories in FTLD subtypes and related tauopathies
Goldman, J. S., Farmer, J. M., Wood, E. M., Johnson, J. K., Boxer, A. L., Neuhaus, J. M., Lomen‐Hoerth, C., Wilhelmsen, K. C., Lee, V. M. Y., Grossman, M., et al. (2005) · Neurology · doi:10.1212/01.wnl.0000187068.92184.63 · Cited by 349 · see citing works
Beck, J., Poulter, M., Hensman, D., Rohrer, J. D., Mahoney, C. J., Adamson, G., Campbell, T., Uphill, J., Borg, A., Fratta, P., et al. (2013) · The American Journal of Human Genetics · doi:10.1016/j.ajhg.2013.01.011 · Cited by 345 · see citing works
Self-citationBoeve, B. F., Boylan, K., Graff‐Radford, N. R., DeJesus‐Hernandez, M., Knopman, D. S., Pedraza, O., Vemuri, P., Jones, D. T., Lowe, V. J., Murray, M. E., et al. (2012) · Brain · doi:10.1093/brain/aws004 · Cited by 344 · see citing works
Fratta, P., Mizielinska, S., Nicoll, A. J., Zloh, M., Fisher, E., Parkinson, G. N., & Isaacs, A. M. (2012) · Scientific Reports · doi:10.1038/srep01016 · Cited by 335 · see citing works
Levine, T. P., Daniels, R. D., Gatta, A. T., Wong, L. H., & Hayes, M. J. (2013) · Bioinformatics · doi:10.1093/bioinformatics/bts725 · Cited by 321 · see citing works
Reddy, K., Zamiri, B., Stanley, S. Y., Macgregor, R. B., & Pearson, C. E. (2013) · Journal of Biological Chemistry · doi:10.1074/jbc.c113.452532 · Cited by 314 · see citing works
Murray, M. E., DeJesus‐Hernandez, M., Rutherford, N. J., Baker, M. C., Duara, R., Graff‐Radford, N. R., Wszołek, Z. K., Ferman, T. J., Josephs, K. A., Boylan, K., et al. (2011) · Acta Neuropathologica · doi:10.1007/s00401-011-0907-y · Cited by 295 · see citing works
Bates, G. P., Murphy, K., Harper, P. S., & Jones, L. A. (2002) · Cited by 263 · see citing works
Zhang, D., Iyer, L. M., He, F., & Aravind, L. (2012) · Frontiers in Genetics · doi:10.3389/fgene.2012.00283 · Cited by 244 · see citing works
Beck, J. A., Rohrer, J. D., Campbell, T., Isaacs, A. M., Morrison, K. E., Goodall, G., Warrington, E. K., Stevens, J., Révész, T., Holton, J. L., et al. (2008) · Brain · doi:10.1093/brain/awm320 · Cited by 226 · see citing works
Self-citationThe C9ORF72 expansion mutation is a common cause of ALS+/−FTD in Europe and has a single founder
Smith, B. N., Newhouse, S., Shatunov, A., Vance, C. A., Topp, S. D., Johnson, L., Miller, J. W., Lee, Y., Troakes, C., Scott, K. M., et al. (2012) · European Journal of Human Genetics · doi:10.1038/ejhg.2012.98 · Cited by 225 · see citing works
C9orf72 repeat expansions are a rare genetic cause of parkinsonism
Lesage, S., Le Ber, I., Condroyer, C., Broussolle, E., Gabelle, A., Thobois, S., Pasquier, F., Mondon, K., Dion, P. A., Rochefort, D., et al. (2013) · Brain · doi:10.1093/brain/aws357 · Cited by 164 · see citing works
Huntington Disease Phenocopy Is a Familial Prion Disease
Moore, R. C., Xiang, F., Monaghan, J., Han, D. G., Zhang, Z., Edström, L., Anvret, M., & Prusiner, S. B. (2001) · The American Journal of Human Genetics · doi:10.1086/324414 · Cited by 153 · see citing works
Homozygosity for the C9orf72 GGGGCC repeat expansion in frontotemporal dementia
Fratta, P., Poulter, M., Lashley, T., Rohrer, J. D., Polke, J. M., Beck, J. A., Ryan, N. S., Moss, D. J. H., Mizielinska, S., Waite, A. J., et al. (2013) · Acta Neuropathologica · doi:10.1007/s00401-013-1147-0 · Cited by 134 · see citing works
Self-citationHuntington's disease phenocopies are clinically and genetically heterogeneous
Wild, E. J., Mudanohwo, E. E., Sweeney, M. G., Schneider, S. A., Beck, J. A., Bhatia, K. P., Rossor, M. N., Davis, M. B., & Tabrizi, S. J. (2008) · Movement Disorders · doi:10.1002/mds.21915 · Cited by 115 · see citing works
Self-citationHuntington disease without CAG expansion: phenocopies or errors in assignment?
Andrew, S. E., Goldberg, Y. P., Kremer, B. P. H., Squitieri, F., Theilmann, J., Zeisler, J., Telenius, H., Adam, S., Almquist, E., & Anvret, M. (1994) · PubMed Central · Cited by 103 · see citing works
Schneider, S. A., Walker, R. H., & Bhatia, K. P. (2007) · Nature Clinical Practice Neurology · doi:10.1038/ncpneuro0606 · Cited by 102 · see citing works
Huntington's disease phenocopy syndromes
Wild, E. J., & Tabrizi, S. J. (2007) · Current Opinion in Neurology · doi:10.1097/wco.0b013e3282f12074 · Cited by 96 · see citing works
Self-citationHuntington's disease CAG trinucleotide repeats in pathologically confirmed post-mortem brains
Persichetti, F., Srinidhi, J., Kanaley, L., Ge, P., Myers, R. H., D'Arigo, K. L., Barnes, G. T., MacDonald, M. E., Vonsattel, J., Gusella, J. F., et al. (1994) · Neurobiology of Disease · doi:10.1006/nbdi.1994.0019 · Cited by 86 · see citing works
Huntington's disease out of the closet?
Rawlins, M. D. (2010) · The Lancet · doi:10.1016/s0140-6736(10)60974-9 · Cited by 69 · see citing works
Recent Advances in the Genetics of the ALS-FTLD Complex
Morris, H. R., Waite, A. J., Williams, N. M., Neal, J., & Blake, D. J. (2012) · Current Neurology and Neuroscience Reports · doi:10.1007/s11910-012-0268-5 · Cited by 57 · see citing works
O'Dowd, S., Curtin, D., Waite, A. J., Roberts, K., Pender, N., Reid, V., O'Connell, M., Williams, N. M., Morris, H. R., Traynor, B. J., et al. (2012) · Movement Disorders · doi:10.1002/mds.25022 · Cited by 52 · see citing works
Large C9orf72 repeat expansions are not a common cause of Parkinson's disease
Majounie, E., Abramzon, Y. A., Renton, A. E., Keller, M. F., Traynor, B. J., & Singleton, A. (2012) · Neurobiology of Aging · doi:10.1016/j.neurobiolaging.2012.05.007 · Cited by 45 · see citing works
Analysis of the C9orf72 repeat in Parkinson's disease, essential tremor and restless legs syndrome
DeJesus‐Hernandez, M., Rayaprolu, S., Soto‐Ortolaza, A. I., Rutherford, N. J., Heckman, M. G., Traynor, S. M., Strongosky, A. J., Graff‐Radford, N. R., van Gerpen, J. A., Uitti, R. J., et al. (2012) · Parkinsonism & Related Disorders · doi:10.1016/j.parkreldis.2012.09.013 · Cited by 44 · see citing works
Huntington's disease: genetic heterogeneity in black African patients.
Magazi, D., Krause, A., Bonev, V., Moagi, M. M., Iqbal, Z., Dludla, M., & van der Meyden, C. H. (2008) · PubMed · Cited by 34 · see citing works
No GGGGCC-hexanucleotide repeat expansion inC9ORF72in parkinsonism patients in Sweden
Akimoto, C., Forsgren, L., Linder, J., Birve, A., Backlund, I., Andersson, J., Nilsson, A.-C., Alstermark, H., & Andersen, P. M. (2012) · Amyotrophic Lateral Sclerosis and Frontotemporal Degeneration · doi:10.3109/17482968.2012.725415 · Cited by 33 · see citing works
Screening for C9orf72 repeat expansions in parkinsonian syndromes
Yeh, T., Lai, S., Weng, Y.-H., Kuo, H., Chou, Y. W., Huang, C.-L., Chen, R., Chang, H., Traynor, B. J., & Lu, C.-S. (2012) · Neurobiology of Aging · doi:10.1016/j.neurobiolaging.2012.09.002 · Cited by 30 · see citing works
Lashley, T., Hardy, J., & Isaacs, A. M. (2013) · Neuron · doi:10.1016/j.neuron.2013.02.009 · Cited by 19 · see citing works
Transmission of C9orf72 hexanucleotide repeat expansions in sporadic amyotrophic lateral sclerosis
Pamphlett, R., Cheong, P. L., Trent, R. J., & Yu, B. (2012) · Neuroreport · doi:10.1097/wnr.0b013e3283544718 · Cited by 18 · see citing works
Friedland, R. P., Shah, J. J., Farrer, L. A., Vardarajan, B. N., Rebolledo-Mendez, J. D., Mok, K. Y., & Hardy, J. (2012) · Frontiers in Neurology · doi:10.3389/fneur.2012.00136 · Cited by 7 · see citing works
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- Wild EJ, Mudanohwo EE, Sweeney MG, et al. Hunting- ton's disease phenocopies are clinically and genetically het- erogeneous. Mov Disord 2008;23:716-720.
Cited by
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Bates, G. P., Dorsey, R., Gusella, J. F., Hayden, M. R., Kay, C., Leavitt, B. R., Nance, M., Ross, C. A., Scahill, R. I., Wetzel, R., et al. (2015) · Nature Reviews Disease Primers · doi:10.1038/nrdp.2015.5 · Cited by 1,641 · see citing works
Self-citationFeldman, E. L., Goutman, S. A., Petri, S., Mazzini, L., Savelieff, M. G., Shaw, P. J., & Sobue, G. (2022) · The Lancet · doi:10.1016/s0140-6736(22)01272-7 · Cited by 1,179 · see citing works
Huntington's disease: a clinical review
McColgan, P., & Tabrizi, S. J. (2017) · European Journal of Neurology · doi:10.1111/ene.13413 · Cited by 1,097 · see citing works
Self-citationC9orf72 nucleotide repeat structures initiate molecular cascades of disease
Haeusler, A. R., Donnelly, C. J., Periz, G., Simko, E. A. J., Shaw, P. G., Kim, M.-S., Maragakis, N. J., Troncoso, J. C., Pandey, A., Sattler, R., et al. (2014) · Nature · doi:10.1038/nature13124 · Cited by 978 · see citing works
The phenotypic variability of amyotrophic lateral sclerosis
Swinnen, B., & Robberecht, W. (2014) · Nature Reviews Neurology · doi:10.1038/nrneurol.2014.184 · Cited by 607 · see citing works
Recent advances in the diagnosis and prognosis of amyotrophic lateral sclerosis
Goutman, S. A., Hardiman, O., Al-Chalabi, A., Chió, A., Savelieff, M. G., Kiernan, M. C., & Feldman, E. L. (2022) · The Lancet Neurology · doi:10.1016/s1474-4422(21)00465-8 · Cited by 493 · see citing works
Emerging insights into the complex genetics and pathophysiology of amyotrophic lateral sclerosis
Goutman, S. A., Hardiman, O. M., Al‐Chalabi, A., Chiò, A., Savelieff, M. G., Kiernan, M. C., & Feldman, E. L. (2022) · The Lancet Neurology · doi:10.1016/s1474-4422(21)00414-2 · Cited by 413 · see citing works
Mutant Huntingtin Disrupts the Nuclear Pore Complex
Grima, J. C., Daigle, J. G., Arbez, N., Cunningham, K. M., Zhang, K., Ochaba, J., Smith-Geater, C., Morozko, E. L., Stocksdale, J. T., Glatzer, J. C., et al. (2017) · Neuron · doi:10.1016/j.neuron.2017.03.023 · Cited by 358 · see citing works
Marras, C., Lang, A. E., van de Warrenburg, B. P. C., Sue, C. M., Tabrizi, S. J., Bertram, L., Mercimek‐Andrews, S., Ebrahimi‐Fakhari, D., Warner, T. T., Dürr, A., et al. (2016) · Movement Disorders · doi:10.1002/mds.26527 · Cited by 285 · see citing works
Self-citationFrontotemporal lobar degeneration: defining phenotypic diversity through personalized medicine
Irwin, D. J., Cairns, N. J., Grossman, M., McMillan, C. T., Lee, E. B., Deerlin, V. M. V., Lee, V. M. ‐., & Trojanowski, J. Q. (2014) · Acta Neuropathologica · doi:10.1007/s00401-014-1380-1 · Cited by 262 · see citing works
The overlapping genetics of amyotrophic lateral sclerosis and frontotemporal dementia
Abramzon, Y. A., Fratta, P., Traynor, B. J., & Chia, R. (2020) · Frontiers in Neuroscience · doi:10.3389/fnins.2020.00042 · Cited by 244 · see citing works
Tao, Z., Wang, H., Qin, X., Li, K., Li, K., Jiang, X., Xu, G., Wang, G., & Ying, Z. (2015) · Human Molecular Genetics · doi:10.1093/hmg/ddv005 · Cited by 233 · see citing works
C9orf72 expansions in frontotemporal dementia and amyotrophic lateral sclerosis
Rohrer, J. D., Isaacs, A. M., Mizielinska, S., Mead, S., Lashley, T., Wray, S., Sidle, K. C. L., Fratta, P., Orrell, R. W., Hardy, J., et al. (2015) · The Lancet Neurology · doi:10.1016/s1474-4422(14)70233-9 · Cited by 234 · see citing works
Self-citationR Loops and Links to Human Disease
Richard, P., & Manley, J. L. (2016) · Journal of Molecular Biology · doi:10.1016/j.jmb.2016.08.031 · Cited by 218 · see citing works
Clinical Features of Huntington’s Disease
Ghosh, R., & Tabrizi, S. J. (2018) · Advances in experimental medicine and biology · doi:10.1007/978-3-319-71779-1_1 · Cited by 207 · see citing works
Self-citationAutophagy and ALS: mechanistic insights and therapeutic implications
Chua, J. P., De Calbiac, H., Kabashi, E., & Barmada, S. J. (2022) · Autophagy · doi:10.1080/15548627.2021.1926656 · Cited by 189 · see citing works
Familial Amyotrophic Lateral Sclerosis
Boylan, K. (2015) · Neurologic Clinics · doi:10.1016/j.ncl.2015.07.001 · Cited by 187 · see citing works
Network degeneration and dysfunction in presymptomatic C9ORF72 expansion carriers
Lee, S. E., Sias, A. C., Mandelli, M. L., Brown, J. A., Brown, A. B., Khazenzon, A. M., Vidovszky, A. A., Zanto, T. P., Karydas, A. M., Pribadi, M., et al. (2017) · NeuroImage: Clinical · doi:10.1016/j.nicl.2016.12.006 · Cited by 165 · see citing works
Chintalaphani, S. R., Pineda, S. S., Deveson, I. W., & Kumar, K. R. (2021) · Acta Neuropathologica Communications · doi:10.1186/s40478-021-01201-x · Cited by 169 · see citing works
Cooper‐Knock, J., Shaw, P. J., & Kirby, J. (2014) · Acta Neuropathologica · doi:10.1007/s00401-014-1251-9 · Cited by 163 · see citing works
Genetics of <scp>FTLD</scp> : overview and what else we can expect from genetic studies
Pottier, C., Ravenscroft, T. A., Sanchez‐Contreras, M., & Rademakers, R. (2016) · Journal of Neurochemistry · doi:10.1111/jnc.13622 · Cited by 148 · see citing works
The clinical spectrum of sporadic and familial forms of frontotemporal dementia
Woollacott, I., & Rohrer, J. D. (2016) · Journal of Neurochemistry · doi:10.1111/jnc.13654 · Cited by 151 · see citing works
C9orf72 deficiency promotes microglial-mediated synaptic loss in aging and amyloid accumulation
Lall, D., Lorenzini, I., Mota, T. A., Bell, S., Mahan, T. E., Ulrich, J. D., Davtyan, H., Rexach, J. E., Muhammad, A. K. M. G., Shelest, O., et al. (2021) · Neuron · doi:10.1016/j.neuron.2021.05.020 · Cited by 147 · see citing works
Recent advances in the detection of repeat expansions with short-read next-generation sequencing
Bahlo, M., Bennett, M. F., Degorski, P., Tankard, R. M., Delatycki, M. B., & Lockhart, P. J. (2018) · F1000Research · doi:10.12688/f1000research.13980.1 · Cited by 117 · see citing works
Hypermethylation of repeat expanded C9orf72 is a clinical and molecular disease modifier
Russ, J., Liu, E. Y., Wu, K., Neal, D., Suh, E. R., Irwin, D. J., McMillan, C. T., Harms, M. B., Cairns, N. J., Wood, E. M., et al. (2014) · Acta Neuropathologica · doi:10.1007/s00401-014-1365-0 · Cited by 128 · see citing works
Relationship between C9orf72 repeat size and clinical phenotype
Mossevelde, S. V., van der Zee, J., Cruts, M., & Broeckhoven, C. V. (2017) · Current Opinion in Genetics & Development · doi:10.1016/j.gde.2017.02.008 · Cited by 128 · see citing works
Current knowledge and recent insights into the genetic basis of amyotrophic lateral sclerosis
Volk, A. E., Weishaupt, J. H., Andersen, P. M., Ludolph, A. C., & Kubisch, C. (2018) · Medizinische Genetik · doi:10.1007/s11825-018-0185-3 · Cited by 127 · see citing works
Repeat‐associated non‐AUG translation in C9orf72‐ALS/FTD is driven by neuronal excitation and stress
Westergard, T., McAvoy, K., Russell, K. A., Wen, X., Pang, Y., Verdone, B. M., Pasinelli, P., Trotti, D., & Haeusler, A. R. (2019) · EMBO Molecular Medicine · doi:10.15252/emmm.201809423 · Cited by 121 · see citing works
(2018) · Handbook of Clinical Neurology · doi:10.1016/b978-0-444-63233-3.00017-8 · Cited by 122 · see citing works
Self-citationParkinsonism, movement disorders and genetics in frontotemporal dementia
Baizabal-Carvallo, J. F., & Jankovic, J. (2016) · Nature Reviews Neurology · doi:10.1038/nrneurol.2016.14 · Cited by 121 · see citing works
Otake, K., Kamiguchi, H., & Hirozane, Y. (2019) · BMC Medical Genomics · doi:10.1186/s12920-019-0473-z · Cited by 94 · see citing works
Genotype-phenotype correlations of amyotrophic lateral sclerosis
Li, H., & Wu, Z. (2016) · Translational Neurodegeneration · doi:10.1186/s40035-016-0050-8 · Cited by 88 · see citing works
Diagnosis and Treatment of Chorea Syndromes
Hermann, A., & Walker, R. H. (2015) · Current Neurology and Neuroscience Reports · doi:10.1007/s11910-014-0514-0 · Cited by 90 · see citing works
Recent advances in amyotrophic lateral sclerosis
Riva, N., Agosta, F., Lunetta, C., Filippi, M., & Quattrini, A. (2016) · Journal of Neurology · doi:10.1007/s00415-016-8091-6 · Cited by 88 · see citing works
Conlon, E. G., Fagegaltier, D., Agius, P., Davis‐Porada, J., Gregory, J. A., Hubbard, I., Kang, K., Kim, D., Phatnani, H. P., Kwan, J. Y., et al. (2018) · eLife · doi:10.7554/elife.37754 · Cited by 85 · see citing works
Huntington disease: A quarter century of progress since the gene discovery
Testa, C. M., & Jankovic, J. J. (2018) · Journal of the Neurological Sciences · doi:10.1016/j.jns.2018.09.022 · Cited by 85 · see citing works
Proudfoot, M. J., Gutowski, N. J., Edbauer, D., Hilton, D. A., Stephens, M., Rankin, J., & Mackenzie, I. R. (2014) · Acta Neuropathologica · doi:10.1007/s00401-014-1245-7 · Cited by 77 · see citing works
Deleon, J., & Miller, B. L. (2018) · Handbook of clinical neurology · doi:10.1016/b978-0-444-64076-5.00027-2 · Cited by 70 · see citing works
Genetics and molecular mechanisms of frontotemporal lobar degeneration: an update and future avenues
Ferrari, R., Manzoni, C., & Hardy, J. (2019) · Neurobiology of Aging · doi:10.1016/j.neurobiolaging.2019.02.006 · Cited by 68 · see citing works
RNF216 mutations as a novel cause of autosomal recessive Huntington-like disorder
Santens, P., Damme, T. V., Steyaert, W., Willaert, A., Sablonnière, B., Paepe, A. D., Coucke, P. J., & Dermaut, B. (2015) · Neurology · doi:10.1212/wnl.0000000000001521 · Cited by 65 · see citing works
O’Brien, M., Burke, T., Heverin, M., Vajda, A., McLaughlin, R. L., Gibbons, J., Byrne, S., Pinto‐Grau, M., Elamin, M., Pender, N. P., et al. (2017) · JAMA Neurology · doi:10.1001/jamaneurol.2017.2699 · Cited by 65 · see citing works
Pereira, G., Sánchez, L., Schaughency, P., Rubio-Roldán, A., Choi, J. A., Planet, E., Batra, R., Turelli, P., Trono, D., Ostrow, L. W., et al. (2018) · Mobile DNA · doi:10.1186/s13100-018-0138-z · Cited by 65 · see citing works
Eberhardt, O., & Topka, H. R. (2017) · Brain Sciences · doi:10.3390/brainsci7080103 · Cited by 62 · see citing works
Fratta, P., Polke, J. M., Newcombe, J., Mizielinska, S., Lashley, T., Poulter, M., Beck, J. A., Preza, E., Devoy, A., Sidle, K. C. L., et al. (2014) · Neurobiology of Aging · doi:10.1016/j.neurobiolaging.2014.07.037 · Cited by 61 · see citing works
Self-citationGenetic testing in dementia — utility and clinical strategies
Koriath, C., Kenny, J., Ryan, N. S., Rohrer, J. D., Schott, J. M., Houlden, H., Fox, N. C., Tabrizi, S. J., & Mead, S. (2020) · Nature Reviews Neurology · doi:10.1038/s41582-020-00416-1 · Cited by 60 · see citing works
Self-citationBenatar, M. G., Wuu, J., Huey, E. D., McMillan, C. T., Petersen, R. C., Postuma, R. B., McHutchison, C. A., Dratch, L., Arias, J. J., Crawley, A., et al. (2024) · Nature Reviews Neurology · doi:10.1038/s41582-024-00961-z · Cited by 57 · see citing works
Self-citationGrigg, J. C., Shumayrikh, N., & Sen, D. (2014) · PLoS ONE · doi:10.1371/journal.pone.0106449 · Cited by 57 · see citing works
R-Loops in Motor Neuron Diseases
Perego, M. G. L., Taiana, M. M., Bresolin, N., Comi, G. P., & Corti, S. P. (2018) · Molecular Neurobiology · doi:10.1007/s12035-018-1246-y · Cited by 57 · see citing works
Koriath, C., Kenny, J., Adamson, G., Druyeh, R., Taylor, W., Beck, J. A., Quinn, L. J. E., Mok, T. H., Dimitriadis, A., Norsworthy, P. J., et al. (2018) · Molecular Psychiatry · doi:10.1038/s41380-018-0224-0 · Cited by 56 · see citing works
Self-citationAntisense Oligonucleotide Therapy for the Treatment of C9ORF72 ALS/FTD Diseases
Riboldi, G. M., Zanetta, C., Ranieri, M., Nizzardo, M., Simone, C., Magri, F., Bresolin, N., Comi, G. P., & Corti, S. P. (2014) · Molecular Neurobiology · doi:10.1007/s12035-014-8724-7 · Cited by 56 · see citing works
Phenocopy syndrome of behavioral variant frontotemporal dementia: a systematic review
Valente, E. S., Caramelli, P., Gambogi, L. B., Mariano, L. I., Guimarães, H. C., Teixeira, A. L., & de Souza, L. C. (2019) · Alzheimer's Research & Therapy · doi:10.1186/s13195-019-0483-2 · Cited by 54 · see citing works
Mariani, L., Tesson, C., Charles, P., Cazeneuve, C., Hahn‐Barma, V., Youssov, K., Freeman, L. A., Grabli, D., Roze, E. F., Noël, S., et al. (2016) · JAMA Neurology · doi:10.1001/jamaneurol.2016.2215 · Cited by 55 · see citing works
Huntington's Disease, Huntington's Disease Look‐Alikes, and Benign Hereditary Chorea: What's New?
Schneider, S. A., & Bird, T. D. (2016) · Movement Disorders Clinical Practice · doi:10.1002/mdc3.12312 · Cited by 54 · see citing works
Bourinaris, T., & Houlden, H. (2018) · Movement Disorders Clinical Practice · doi:10.1002/mdc3.12677 · Cited by 54 · see citing works
Self-citationThe Spectrum of C9orf72-mediated Neurodegeneration and Amyotrophic Lateral Sclerosis
Cooper‐Knock, J., Kirby, J., Highley, J. R., & Shaw, P. J. (2015) · Neurotherapeutics · doi:10.1007/s13311-015-0342-1 · Cited by 54 · see citing works
Unravelling the clinical spectrum and the role of repeat length in C9ORF72 repeat expansions
van der Ende, E. L., Jackson, J. L., White, A. E., Seelaar, H., van Blitterswijk, M., & Swieten, J. C. V. (2021) · Journal of Neurology Neurosurgery & Psychiatry · doi:10.1136/jnnp-2020-325377 · Cited by 52 · see citing works
Huntington's Disease: A Clinical Review
Andhale, R., & Shrivastava, D. (2022) · Cureus · doi:10.7759/cureus.28484 · Cited by 51 · see citing works
Riedhammer, K. M., Braunisch, M. C., Günthner, R., Wagner, M., Hemmer, C., Strom, T. M., Schmaderer, C., Renders, L., Tasic, V. B., Gucev, Z. S., et al. (2020) · American Journal of Kidney Diseases · doi:10.1053/j.ajkd.2019.12.008 · Cited by 49 · see citing works
Genetic architecture of common non-Alzheimer’s disease dementias
Guerreiro, R. J., Gibbons, E., Tábuas‐Pereira, M., Kun‐Rodrigues, C., Cordeiro, G., & Brás, J. (2020) · Neurobiology of Disease · doi:10.1016/j.nbd.2020.104946 · Cited by 46 · see citing works
A Systematic Review of the Huntington Disease-Like 2 Phenotype
Anderson, D. G., Walker, R. H., Connor, M., Carr, J. A., Margolis, R. L., & Krause, A. (2017) · Journal of Huntington s Disease · doi:10.3233/jhd-160232 · Cited by 43 · see citing works
Clinical and neuroimaging phenotypes of genetic parkinsonism from infancy to adolescence
Morales‐Briceño, H., Mohammad, S. S., Post, B., Fois, A. F., Dale, R. C., Tchan, M. C., & Fung, V. S. C. (2019) · Brain · doi:10.1093/brain/awz345 · Cited by 43 · see citing works
Brain Microbiota in Huntington’s Disease Patients
Alonso, R., Pisa, D., & Carrasco, L. (2019) · Frontiers in Microbiology · doi:10.3389/fmicb.2019.02622 · Cited by 42 · see citing works
Konopka, A., & Atkin, J. D. (2018) · International Journal of Molecular Sciences · doi:10.3390/ijms19103137 · Cited by 40 · see citing works
Survival and Prognostic Factors in C9orf72 Repeat Expansion Carriers
Glasmacher, S. A., Wong, C., Pearson, I., & Pal, S. (2019) · JAMA Neurology · doi:10.1001/jamaneurol.2019.3924 · Cited by 43 · see citing works
Review of Hereditary and Acquired Rare Choreas
Martínez-Ramírez, D., Walker, R. H., Rodríguez‐Violante, M., & Gatto, E. M. (2020) · Tremor and Other Hyperkinetic Movements · doi:10.5334/tohm.548 · Cited by 40 · see citing works
Spinocerebellar Ataxia Type 17 (SCA17)
Toyoshima, Y., & Takahashi, H. (2018) · Advances in experimental medicine and biology · doi:10.1007/978-3-319-71779-1_10 · Cited by 39 · see citing works
Wilke, C., Pomper, J. K., Biskup, S., Puskás, C., Berg, D., & Synofzik, M. (2016) · Journal of Neurology · doi:10.1007/s00415-016-8021-7 · Cited by 43 · see citing works
C9orf72 expansion as a possible genetic cause of Huntington disease phenocopy syndrome
Kostić, V. S., Dobričić, V., Stanković, I., Ralić, V., & Stefanova, E. (2014) · Journal of Neurology · doi:10.1007/s00415-014-7430-8 · Cited by 37 · see citing works
Giannoccaro, M. P., Bartoletti‐Stella, A., Piras, S., Pession, A., Massis, P. D., Oppi, F., Maserati, M. S., Pasini, E., Baiardi, S., Avoni, P., et al. (2017) · Journal of Neurology · doi:10.1007/s00415-017-8540-x · Cited by 37 · see citing works
Termsarasab, P. (2019) · CONTINUUM Lifelong Learning in Neurology · doi:10.1212/con.0000000000000763 · Cited by 37 · see citing works
Expanding the Spectrum of Movement Disorders Associated With C9orf72 Hexanucleotide Expansions
Estevez‐Fraga, C., Magrinelli, F., Moss, D. J. H., Mulroy, E., Lazzaro, G. D., Latorre, A., Mackenzie, M., Houlden, H., Tabrizi, S. J., & Bhatia, K. P. (2021) · Neurology Genetics · doi:10.1212/nxg.0000000000000575 · Cited by 36 · see citing works
Self-citationAydin, G., Dekomien, G., Hoffjan, S., Gerding, W. M., Epplen, J. T., & Arning, L. (2018) · BMC Neurology · doi:10.1186/s12883-017-1009-9 · Cited by 34 · see citing works
Koutsis, G., Karadima, G., Kartanou, C., Kladi, A., & Πάνας, Μ. (2014) · Neurobiology of Aging · doi:10.1016/j.neurobiolaging.2014.08.020 · Cited by 33 · see citing works
Genetics of Movement Disorders and the Practicing Clinician; Who and What to Test for?
Fonzo, A. D., Monfrini, E., & Erro, R. (2018) · Current Neurology and Neuroscience Reports · doi:10.1007/s11910-018-0847-1 · Cited by 34 · see citing works
Recent advances in genetics of chorea
Mencacci, N. E., & Carecchio, M. (2016) · Current Opinion in Neurology · doi:10.1097/wco.0000000000000352 · Cited by 32 · see citing works
Cannas, A., Solla, P., Borghero, G., Floris, G., Chiò, A., Mascia, M. M., Modugno, N., Muroni, A., Orofino, G., Stefano, F. D., et al. (2015) · Journal of Neurology · doi:10.1007/s00415-015-7873-6 · Cited by 32 · see citing works
Huntington's disease-like disorders in Latin America and the Caribbean
Walker, R. H., Gatto, E. M., Bustamante, M. L., Bernal-Pacheco, Ó., Cardoso, F., Castilhos, R. M., Chaná‐Cuevas, P., Cornejo‐Olivas, M., Estrada-Bellmann, I. E., Jardim, L. B., et al. (2018) · Parkinsonism & Related Disorders · doi:10.1016/j.parkreldis.2018.05.021 · Cited by 30 · see citing works
Emerging role of RNA•DNA hybrids inC9orf72-linked neurodegeneration
Wang, J., Haeusler, A. R., & Simko, E. A. J. (2015) · Cell Cycle · doi:10.1080/15384101.2014.995490 · Cited by 29 · see citing works
C9orf72-related disorders: expanding the clinical and genetic spectrum of neurodegenerative diseases
de Souza, P. V. S., Pinto, W. B. V. D. R., & Oliveira, A. S. B. (2015) · Arquivos de Neuro-Psiquiatria · doi:10.1590/0004-282x20140229 · Cited by 26 · see citing works
A systematic review of neuroimaging studies
de Godoy, L., Prado, R., Bicalho, I. C. S., Magalhães, D., Caramelli, P., Teixeira, A. L., & de Souza, L. C. (2015) · Cited by 25 · see citing works
Novel Imaging Biomarkers for Huntington’s Disease and Other Hereditary Choreas
Fazio, P., Paucar, M., Svenningsson, P., & Varrone, A. (2018) · Current Neurology and Neuroscience Reports · doi:10.1007/s11910-018-0890-y · Cited by 25 · see citing works
Crook, A., Jacobs, C., Newton-John, T. R. O., O’Shea, R., & McEwen, A. (2021) · Journal of Neurology · doi:10.1007/s00415-021-10461-5 · Cited by 22 · see citing works
C9orf72/ALFA-1 controls TFEB/HLH-30-dependent metabolism through dynamic regulation of Rag GTPases
Ji, Y. J., Ugolino, J., Zhang, T., Lu, J., Kim, D., & Wang, J. (2020) · PLoS Genetics · doi:10.1371/journal.pgen.1008738 · Cited by 21 · see citing works
Goodier, J. L., Soares, A. O., Pereira, G., Devine, L. R., Sánchez, L., Cole, R. N., & Garcia-Perez, J. L. (2020) · Acta Neuropathologica Communications · doi:10.1186/s40478-020-00982-x · Cited by 19 · see citing works
Furr-Stimming, E. E., & Bega, D. (2022) · CONTINUUM Lifelong Learning in Neurology · doi:10.1212/con.0000000000001169 · Cited by 20 · see citing works
Genetic testing in adults with neurologic disorders: indications, approach, and clinical impacts
Dratch, L., Azage, M., Baldwin, A., Johnson, K., Paul, R. A., Bardakjian, T., Michon, S.-C., Amado, D. A., Baer, M., Deik, A., et al. (2023) · Journal of Neurology · doi:10.1007/s00415-023-12058-6 · Cited by 22 · see citing works
C9ORF72 hexanucleotide repeat expansion: From ALS and FTD to a broader pathogenic role?
Sellier, C., Corcia, P., Vourc’h, P., & Dupuis, L. (2024) · Revue Neurologique · doi:10.1016/j.neurol.2024.03.008 · Cited by 21 · see citing works
Pure cerebellar ataxia linked to large C9orf72 repeat expansion
Corcia, P., Vourc’h, P., Guennoc, A., Amador, M. D. M., Blasco, H., Andres, C. R., Couratier, P., Gordon, P. H., & Meininger, V. (2015) · Amyotrophic Lateral Sclerosis and Frontotemporal Degeneration · doi:10.3109/21678421.2015.1113298 · Cited by 21 · see citing works
Frontotemporal Dementia and Chorea Associated with a Compound Heterozygous TREM2 Mutation
Redaelli, V., Salsano, E., Colleoni, L., Corbetta, P., Tringali, G., Sole, A. D., Giaccone, G., & Rossi, G. (2018) · Journal of Alzheimer s Disease · doi:10.3233/jad-180018 · Cited by 20 · see citing works
Marzban, H., Kong, J., Mehr, S. E., Vriend, J. P., Li, J., Guan, T., Chung, S., Mirzaei, N., Marzban, A., Shojaei, S., et al. (2016) · Current Molecular Pharmacology · doi:10.2174/1874467209666160112125446 · Cited by 20 · see citing works
Ishiura, H., & Tsuji, S. (2015) · Journal of Neurogenetics · doi:10.3109/01677063.2015.1085980 · Cited by 18 · see citing works
Huntington disease-like 2: insight into neurodegeneration from an African disease
Krause, A., Anderson, D. G., Ferreira‐Correia, A., Dawson, J., Baine, F., Li, P. P., & Margolis, R. L. (2023) · Nature Reviews Neurology · doi:10.1038/s41582-023-00906-y · Cited by 17 · see citing works
C9ORF72 and the FTD-ALS spectrum: a systematic review of neuroimaging studies
Prado, L. D. G. R., Bicalho, I. C. S., Magalhães, D., Caramelli, P., Teixeira, A. L., & de Souza, L. C. (2015) · Dementia & Neuropsychologia · doi:10.1590/1980-57642015dn94000413 · Cited by 17 · see citing works
Xeroderma pigmentosum is a definite cause of Huntington's disease‐like syndrome
García‐Moreno, H., Fassihi, H., Sarkany, R., Phukan, J., Warner, T. T., Lehmann, A. R., & Giunti, P. (2017) · Annals of Clinical and Translational Neurology · doi:10.1002/acn3.511 · Cited by 17 · see citing works
Cognitive Profile of C9orf72 in Frontotemporal Dementia and Amyotrophic Lateral Sclerosis
Patel, A. N., & Sampson, J. B. (2015) · Current Neurology and Neuroscience Reports · doi:10.1007/s11910-015-0582-9 · Cited by 17 · see citing works
C9orf72-Related Amyotrophic Lateral Sclerosis and Frontotemporal Dementia
Cruts, M., Engelborghs, S., van der Zee, J., & Broeckhoven, C. V. (2015) · VUBIR (Vrije Universiteit Brussel) · Cited by 16 · see citing works
Is There Convincing Evidence that Intermediate Repeats in the HTT Gene Cause Huntington’s Disease?
Oosterloo, M., van Belzen, M. J., Bijlsma, E. K., & Roos, R. A. C. (2015) · Journal of Huntington s Disease · doi:10.3233/jhd-140120 · Cited by 16 · see citing works
Analysis of C9orf72 repeat expansions in a large international cohort of dementia with Lewy bodies
Kun‐Rodrigues, C., Ross, O. A., Orme, T., Shepherd, C. E., Parkkinen, L., Darwent, L., Hernandez, D. G., Ansorge, O., Clark, L. N., Honig, L. S., et al. (2016) · Neurobiology of Aging · doi:10.1016/j.neurobiolaging.2016.08.023 · Cited by 15 · see citing works
Kresojević, N. D., Mandić‐Stojmenović, G., Dobričić, V., Petrović, I. N., Brajković, L., Stefanova, E. D., Svetel, M. V., & Kostić, V. (2019) · Movement Disorders Clinical Practice · doi:10.1002/mdc3.12892 · Cited by 14 · see citing works
Aberrant Rna Homeostasis in Amyotrophic Lateral Sclerosis: Potential for New Therapeutic targets?
Donnelly, C. J., Grima, J. C., & Sattler, R. (2014) · Neurodegenerative Disease Management · doi:10.2217/nmt.14.36 · Cited by 14 · see citing works
- Authors
- Hensman Moss, D. J., Poulter, M., Beck, J., Hehir, J., Polke, J. M., Campbell, T., Adamson, G., Mudanohwo, E., McColgan, P., Haworth, A., Wild, E. J., Sweeney, M. G., Houlden, H., Mead, S., & Tabrizi, S. J.
- Affiliations
- From the Departments of Neurodegenerative Disease (D.J.H.M., P.M., E.J.W., S.M., S.J.T.) and Molecular Neuroscience (H.H.), UCL Institute of Neurology, London; MRC Prion Unit (M.P., J.B., T.C., G.A.), London; and Neurogenetics Unit (J.H., J.M.P., E.M., A.H., M.G.S., H.H.), National Hospital for Neurology and Neurosurgery, University College London Hospitals, UK.
- MRC Prion Unit (GB)
- ORCID
- Venue
- Neurology
- Published
- 2014-01-28
- Volume
- 82
- Issue
- 4
- Pages
- 292-299
- ISSN
- 0028-3878 (ISSN-L)
- 1526-632X
- PMC
- PMC3929197
- OpenAlex
- W2159280728
- Cited by
- 203
- References
- 37
- Citations by year
- 2026: 5 · 2025: 8 · 2024: 12 · 2023: 9 · 2022: 13 · 2021: 13 · 2020: 19 · 2019: 10 · 2018: 27 · 2017: 16 · 2016: 29 · 2015: 23 · 2014: 17 · 2013: 1
- FWCI
- 11.45
- Type
- journal article
- Language
- en
- Update notices
- correction (2014-05-13)
- Open access
- bronze
- doi.org
- Locations
- Neurology (publishedVersion)
- Europe PMC (PubMed Central) (publishedVersion)
- PubMed Central (publishedVersion)
- PubMed (publishedVersion)
- UCL Discovery (University College London) (submittedVersion)
- Funders
- CHDI Foundation
- National Institute for Health and Care Research (ACF-2009-18-016, CL-2009-18-005)
- Academy of Medical Sciences (AMS-SGCL6-Wild)
- University College London
- University College London Hospitals NHS Foundation Trust
- Medical Research Council (MR/J004758/1, MR/L02053X/1, EU FP7)
- Biotechnology and Biological Sciences Research Council
- Topics
- Life Sciences › Neuroscience › Cellular and Molecular Neuroscience › Genetic Neurodegenerative Diseases
- Health Sciences › Medicine › Neurology › Amyotrophic Lateral Sclerosis Research
- Life Sciences › Neuroscience › Cellular and Molecular Neuroscience › Hereditary Neurological Disorders
- Keywords
- C9orf72, repeat expansion, genetic testing, movement disorders, dystonia, chorea, myoclonus, tremor, rigidity, age of onset, pediatric onset, frontotemporal lobar degeneration, amyotrophic lateral sclerosis
- MeSH terms
- C9orf72 Protein, Adolescent, Adult, Child, Cognition Disorders, DNA Mutational Analysis, Female, Humans, Huntington Disease, Magnetic Resonance Imaging, Male, Mental Status Schedule, Middle Aged, Phenotype, Proteins, Severity of Illness Index, Cohort Studies, Age of Onset, DNA Repeat Expansion, Young Adult
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