Longitudinal imaging in C9ORF72 mutation carriers: relationship to phenotype
Open accessAbstract
Expansion mutations in the C9orf72 gene may cause amyotrophic lateral sclerosis (ALS), frontotemporal dementia (FTD), or mixtures of the two clinical phenotypes. Different imaging findings have been described for C9orf72-associated diseases in comparison with sporadic patients with the same phenotypes, but it is uncertain whether different phenotypes have a common genotype-associated imaging signature. To address this question, 27 unrelated C9orf72 expansion mutation carriers (C9 +) with varied phenotypes, 28 age-matched healthy controls and 22 patients with sporadic ALS (sALS) underwent 3T MRI scanning and clinical phenotyping. Measures of brain volumes and cortical thickness were extracted from T1 images. Compared to healthy controls and sALS patients, symptomatic C9 + subjects had greater ventricular volume loss and thalamic atrophy for age, with diffuse, patchy cortical thinning. Asymptomatic carriers did not differ from controls. C9 + ALS and ALS-FTD patients had less thinning of the motor cortex than sALS patients, but more thinning in extramotor regions, particularly in frontal and temporal lobes. C9 + ALS patients differed from sporadic ALS patients in the thickness of the superior frontal gyrus and lateral orbitofrontal cortex. Thickness of the precentral gyrus was weakly correlated with the revised ALS functional rating scale. Thickness of many cortical regions, including several frontal and temporal regions, was moderately correlated with letter fluency scores. Letter fluency scores were weakly correlated with ventricular and thalamic volume. To better understand how imaging findings are related to disease progression, nineteen C9 + subjects and 23 healthy controls were scanned approximately 6 months later. Ventricular volume increased in C9 + patients with FTD and ALS-FTD phenotypes and remained stable in asymptomatic C9 + subjects. We conclude that diffuse atrophy is a common underlying feature of disease associated with C9orf72 mutations across its clinical phenotypes. Ventricular enlargement can be measured over a 6-month time frame, and appears to be faster in patients with cognitive impairment.
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Over varying follow-up (from 6 months to 2.5 years), the increase of grey matter atrophy was associated with various validated clinical measures of disease progression, such as the CDR, CDR-FTD, MMSE, and letter fluency scores.
“Over varying follow-up (from 6 months to 2.5 years), the increase of GM atrophy was associated with various validated clinical measures of disease progression, such as the CDR, CDR-FTD, MMSE, and, in neuropsychological testing, letter fluency scores (Gordon et al., 2010; Floeter et al., 2016; Staffaroni et al., 2019b; Illán-Gala et al., 2021b).”
From The pursuit for markers of disease progression in behavioral variant frontotemporal dementia: a scoping review to optimize outcome measures for clinical trials (2024) · cites this paper as Floeter et al., 2016
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Folstein, M. F., Folstein, S. E., & McHugh, P. R. (1975) · Journal of Psychiatric Research · doi:10.1016/0022-3956(75)90026-6 · Cited by 88,282 · see citing works
Desikan, R. S., Ségonne, F., Fischl, B., Quinn, B. T., Dickerson, B. C., Blacker, D., Buckner, R. L., Dale, A. M., Maguire, R. P., Hyman, B. T., et al. (2006) · NeuroImage · doi:10.1016/j.neuroimage.2006.01.021 · Cited by 13,324 · see citing works
Cortical Surface-Based Analysis
Dale, A. M., Fischl, B., & Sereno, M. I. (1999) · NeuroImage · doi:10.1006/nimg.1998.0395 · Cited by 10,910 · see citing works
Fischl, B., Salat, D. H., Busa, E., Albert, M., Dieterich, M., Haselgrove, C., van der Kouwe, A., Killiany, R., Kennedy, D., Klaveness, S., et al. (2002) · Neuron · doi:10.1016/s0896-6273(02)00569-x · Cited by 8,610 · see citing works
Cortical Surface-Based Analysis
Fischl, B., Sereno, M. I., & Dale, A. M. (1999) · NeuroImage · doi:10.1006/nimg.1998.0396 · Cited by 6,147 · see citing works
Measuring the thickness of the human cerebral cortex from magnetic resonance images
Fischl, B. R., & Dale, A. M. (2000) · Proceedings of the National Academy of Sciences · doi:10.1073/pnas.200033797 · Cited by 5,789 · see citing works
El Escorial revisited: revised criteria for the diagnosis of amyotrophic lateral sclerosis
Brooks, B. R., Miller, R. G., Swash, M., & Munsat, T. L. (2000) · Amyotrophic Lateral Sclerosis and Other Motor Neuron Disorders · doi:10.1080/146608200300079536 · Cited by 5,433 · 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
Self-citationAutomatically Parcellating the Human Cerebral Cortex
Fischl, B. R. (2003) · Cerebral Cortex · doi:10.1093/cercor/bhg087 · Cited by 4,208 · see citing works
Cedarbaum, J. M., Stambler, N., Malta, E., Fuller, C., Hilt, D., Thurmond, B., & Nakanishi, A. (1999) · Journal of the Neurological Sciences · doi:10.1016/s0022-510x(99)00210-5 · Cited by 3,307 · see citing works
Within-subject template estimation for unbiased longitudinal image analysis
Reuter, M., Schmansky, N. J., Rosas, H. D., & Fischl, B. (2012) · NeuroImage · doi:10.1016/j.neuroimage.2012.02.084 · Cited by 2,356 · see citing works
Converging Mechanisms in ALS and FTD: Disrupted RNA and Protein Homeostasis
Ling, S.-C., Polymenidou, M., & Cleveland, D. W. (2013) · Neuron · doi:10.1016/j.neuron.2013.07.033 · Cited by 1,811 · see citing works
Majounie, E., Renton, A. E., Mok, K., Dopper, E. G., Waite, A., Rollinson, S., Chiò, A., Restagno, G., Nicolaou, N., Simon-Sanchez, J., et al. (2012) · The Lancet Neurology · doi:10.1016/s1474-4422(12)70043-1 · Cited by 1,210 · see citing works
Self-citationRNA Toxicity from the ALS/FTD C9ORF72 Expansion Is Mitigated by Antisense Intervention
Donnelly, C. J., Zhang, P.-W., Pham, J. T., Haeusler, A. R., Mistry, N. A., Vidensky, S., Daley, E. L., Poth, E. M., Hoover, B., Fines, D. M., et al. (2013) · Neuron · doi:10.1016/j.neuron.2013.10.015 · Cited by 877 · see citing works
Self-citationReliability and validity of the delis-kaplan executive function system: An update.
DELIS, D. C., KRAMER, J. H., KAPLAN, E., & HOLDNACK, J. (2004) · Journal of the International Neuropsychological Society · doi:10.1017/s1355617704102191 · Cited by 567 · see citing works
Rohrer, J. D., Nicholas, J. M., Cash, D. M., van Swieten, J., Dopper, E., Jiskoot, L., van Minkelen, R., Rombouts, S. A., Cardoso, M. J., Clegg, S., et al. (2015) · The Lancet Neurology · doi:10.1016/s1474-4422(14)70324-2 · Cited by 538 · see citing works
Amyotrophic lateral sclerosis—a model of corticofugal axonal spread
Braak, H., Brettschneider, J., Ludolph, A. C., Lee, V. M., Trojanowski, J. Q., & Tredici, K. D. (2013) · Nature Reviews Neurology · doi:10.1038/nrneurol.2013.221 · Cited by 524 · see citing works
Byrne, S., Elamin, M., Bede, P., Shatunov, A., Walsh, C., Corr, B., Heverin, M., Jordan, N., Kenna, K. P., Lynch, C. M., et al. (2012) · The Lancet Neurology · doi:10.1016/s1474-4422(12)70014-5 · Cited by 483 · see citing works
Accurate automatic estimation of total intracranial volume: A nuisance variable with less nuisance
Malone, I. B., Leung, K. K., Clegg, S., Barnes, J., Whitwell, J. L., Ashburner, J., Fox, N. C., & Ridgway, G. R. (2014) · NeuroImage · doi:10.1016/j.neuroimage.2014.09.034 · Cited by 452 · see citing works
Su, Z., Zhang, Y., Gendron, T. F., Bauer, P. O., Chew, J., Yang, W.-Y., Fostvedt, E., Jansen‐West, K. R., Belzil, V., Desaro, P., et al. (2014) · Neuron · doi:10.1016/j.neuron.2014.07.041 · Cited by 358 · see citing works
Self-citationSequential distribution of pTDP-43 pathology in behavioral variant frontotemporal dementia (bvFTD)
Brettschneider, J., Tredici, K. D., Irwin, D. J., Grossman, M., Robinson, J. L., Toledo, J. B., Fang, L., Deerlin, V. M. V., Ludolph, A. C., Lee, V. M. ‐., et al. (2014) · Acta Neuropathologica · doi:10.1007/s00401-013-1238-y · Cited by 314 · see citing works
Word retrieval in amyotrophic lateral sclerosis: a functional magnetic resonance imaging study
Abrahams, S., Goldstein, L. H., Simmons, A., Brammer, M. J., Williams, S., Giampietro, V., & Leigh, P. N. (2004) · Brain · doi:10.1093/brain/awh170 · Cited by 251 · 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
Hsiung, G. R., DeJesus-Hernandez, M., Feldman, H., Sengdy, P., Bouchard‐Kerr, P., Dwosh, E., Butler, R. K., Leung, B., Fok, A., Rutherford, N. J., et al. (2012) · Brain · doi:10.1093/brain/awr354 · Cited by 220 · see citing works
Factor Analysis of the Frontal Systems Behavior Scale (FrSBe)
Stout, J. C., Ready, R. E., Grace, J., Malloy, P. F., & Paulsen, J. S. (2003) · Assessment · doi:10.1177/1073191102250339 · Cited by 216 · see citing works
Phenotypic signatures of genetic frontotemporal dementia
Rohrer, J. D., & Warren, J. D. (2011) · Current Opinion in Neurology · doi:10.1097/wco.0b013e32834cd442 · Cited by 210 · see citing works
Kim, E.-J., Sidhu, M., Gaus, S. E., Huang, E. J., Hof, P. R., Miller, B. L., DeArmond, S. J., & Seeley, W. W. (2012) · Cerebral Cortex · doi:10.1093/cercor/bhr004 · Cited by 204 · see citing works
Kassubek, J., Müller, H.-P., Tredici, K. D., Brettschneider, J., Pinkhardt, E. H., Lulé, D. E., Böhm, S., Braak, H., & Ludolph, A. C. (2014) · Brain · doi:10.1093/brain/awu090 · Cited by 198 · see citing works
Structural and functional brain connectivity in presymptomatic familial frontotemporal dementia
Dopper, E. G. P., Rombouts, S. A. R. B., Jiskoot, L. C., den Heijer, T., de Graaf, J. R. A., de Koning, I., Hammerschlag, A. R., Seelaar, H., Seeley, W. W., Veer, I. M., et al. (2013) · Neurology · doi:10.1212/wnl.0b013e31828407bc · Cited by 197 · see citing works
Menke, R., Körner, S., Filippini, N., Douaud, G., Knight, S., Talbot, K., & Turner, M. R. (2014) · Brain · doi:10.1093/brain/awu162 · Cited by 190 · see citing works
Consensus guidelines for the design and implementation of clinical trials in ALS
Miller, R. G., Munsat, T. L., Swash, M., & Brooks, B. R. (1999) · Journal of the Neurological Sciences · doi:10.1016/s0022-510x(99)00209-9 · Cited by 187 · see citing works
Basal ganglia involvement in amyotrophic lateral sclerosis
Bede, P., Elamin, M., Byrne, S., McLaughlin, R. L., Kenna, K. P., Vajda, A., Pender, N. P., Bradley, D. G., & Hardiman, O. M. (2013) · Neurology · doi:10.1212/01.wnl.0000437313.80913.2c · Cited by 177 · see citing works
A large-scale multicentre cerebral diffusion tensor imaging study in amyotrophic lateral sclerosis
Müller, H.-P., Turner, M. R., Großkreutz, J., Abrahams, S., Bede, P., Govind, V., Prudlo, J., Ludolph, A. C., Filippi, M., & Kassubek, J. (2016) · Journal of Neurology Neurosurgery & Psychiatry · doi:10.1136/jnnp-2015-311952 · Cited by 176 · see citing works
Towards a neuroimaging biomarker for amyotrophic lateral sclerosis
Turner, M. R., Großkreutz, J., Kassubek, J., Abrahams, S., Agosta, F., Benatar, M. G., Filippi, M., Goldstein, L. H., van den Heuvel, M. P., Kalra, S., et al. (2011) · The Lancet Neurology · doi:10.1016/s1474-4422(11)70049-7 · Cited by 171 · see citing works
Multiparametric MRI study of ALS stratified for the C9orf72 genotype
Bede, P., Bokde, A. L. W., Byrne, S., Elamin, M., McLaughlin, R. L., Kenna, K. P., Fagan, A. J., Pender, N. P., Bradley, D. G., & Hardiman, O. M. (2013) · Neurology · doi:10.1212/wnl.0b013e31829c5eee · Cited by 168 · see citing works
Altered network connectivity in frontotemporal dementia with C9orf72 hexanucleotide repeat expansion
Lee, S. E., Khazenzon, A. M., Trujillo, A. J., Guo, C. C., Yokoyama, J. S., Sha, S. J., Takada, L. T., Karydas, A. M., Block, N., Coppola, G., et al. (2014) · Brain · doi:10.1093/brain/awu248 · Cited by 158 · see citing works
Structural and functional brain connectivity in presymptomatic familial frontotemporal dementia
Dopper, E. G. P., Rombouts, S. A. R. B., Jiskoot, L. C., den Heijer, T., de Graaf, J. R. A., de Koning, I., Hammerschlag, A. R., Seelaar, H., Seeley, W. W., Veer, I. M., et al. (2014) · Neurology · doi:10.1212/wnl.0000000000000583 · Cited by 152 · see citing works
Structural MRI reveals cortical thinning in amyotrophic lateral sclerosis
Verstraete, E., Veldink, J. H., Hendrikse, J., Schelhaas, H. J., van den Heuvel, M. P., & van den Berg, L. H. (2011) · Journal of Neurology Neurosurgery & Psychiatry · doi:10.1136/jnnp-2011-300909 · Cited by 151 · see citing works
The Cortical Signature of Amyotrophic Lateral Sclerosis
Agosta, F., Valsasina, P., Riva, N., Copetti, M., Messina, M., Prelle, A. C., Comı, G., & Filippi, M. (2012) · PLoS ONE · doi:10.1371/journal.pone.0042816 · Cited by 137 · see citing works
Basal ganglia pathology in ALS is associated with neuropsychological deficits
Machts, J., Loewe, K., Kaufmann, J., Jakubiczka, S., Abdulla, S., Petri, S., Dengler, R., Heinze, H., Vielhaber, S., Schoenfeld, M. A., et al. (2015) · Neurology · doi:10.1212/wnl.0000000000002017 · Cited by 124 · see citing works
Benatar, M. G., & Wuu, J. (2012) · Neurology · doi:10.1212/wnl.0b013e31826e9b1d · Cited by 123 · see citing works
Whitwell, J. L., Boeve, B. F., Weigand, S. D., Senjem, M. L., Gunter, J. L., Baker, M., DeJesus‐Hernandez, M., Knopman, D. S., Wszolek, Z. K., Petersen, R. C., et al. (2015) · European Journal of Neurology · doi:10.1111/ene.12675 · Cited by 119 · see citing works
Mahoney, C. J., Downey, L. E., Ridgway, G. R., Beck, J., Clegg, S., Blair, M., Finnegan, S., Leung, K. K., Yeatman, T., Golden, H., et al. (2012) · Alzheimer's Research & Therapy · doi:10.1186/alzrt144 · Cited by 114 · see citing works
Executive dysfunction in frontotemporal dementia and corticobasal syndrome
Huey, E. D., Goveia, E., Paviol, S., Pardini, M., Krueger, F. W., Zamboni, G., Tierney, M., Wassermann, E. M., & Grafman, J. H. (2009) · Neurology · doi:10.1212/01.wnl.0000341781.39164.26 · Cited by 113 · see citing works
Schmidt, R., Verstraete, E., de Reus, M. A., Veldink, J. H., van den Berg, L. H., & van den Heuvel, M. P. (2014) · Human Brain Mapping · doi:10.1002/hbm.22481 · Cited by 104 · see citing works
Neuroimaging in frontotemporal dementia
Rohrer, J. D., & Rosen, H. J. (2013) · International Review of Psychiatry · doi:10.3109/09540261.2013.778822 · Cited by 104 · see citing works
Roccatagliata, L., Bonzano, L., Mancardi, G., Canepa, C., & Caponnetto, C. (2008) · Amyotrophic Lateral Sclerosis · doi:10.1080/17482960802267530 · Cited by 94 · see citing works
Comparative analysis of C9orf72 and sporadic disease in an ALS clinic population
Umoh, M. E., Fournier, C. N., Li, Y., Polak, M. A., Shaw, L., Landers, J. E., Hu, W. T., Gearing, M., & Glass, J. D. (2016) · Neurology · doi:10.1212/wnl.0000000000003067 · Cited by 88 · see citing works
Schmidt, R., de Reus, M. A., Scholtens, L. H., van den Berg, L. H., & van den Heuvel, M. P. (2015) · NeuroImage · doi:10.1016/j.neuroimage.2015.04.005 · Cited by 84 · see citing works
Brain morphologic changes in asymptomatic C9orf72 repeat expansion carriers
Walhout, R., Schmidt, R., Westeneng, H., Verstraete, E., Seelen, M., van Rheenen, W., de Reus, M. A., van Es, M. A., Hendrikse, J., Veldink, J. H., et al. (2015) · Neurology · doi:10.1212/wnl.0000000000002135 · Cited by 81 · see citing works
Kwan, J. Y., Meoded, A., Danielian, L. E., Wu, T., & Floeter, M. K. (2012) · NeuroImage Clinical · doi:10.1016/j.nicl.2012.12.003 · Cited by 81 · see citing works
Self-citationGenetic modifiers in carriers of repeat expansions in the C9ORF72 gene
van Blitterswijk, M., Mullen, B., Wojtas, A., Heckman, M. G., Diehl, N. N., Baker, M., DeJesus‐Hernandez, M., Brown, P. H., Murray, M. E., Hsiung, G. R., et al. (2014) · Molecular Neurodegeneration · doi:10.1186/1750-1326-9-38 · Cited by 78 · see citing works
Presymptomatic spinal cord neurometabolic findings inSOD1-positive people at risk for familial ALS
Carew, J. D., Nair, G., Andersen, P. M., Wuu, J., Gronka, S., Hu, X. P., & Benatar, M. G. (2011) · Neurology · doi:10.1212/wnl.0b013e318231526a · Cited by 75 · see citing works
C9orf72 promoter hypermethylation is neuroprotective
McMillan, C. T., Russ, J., Wood, E. M., Irwin, D. J., Grossman, M., McCluskey, L. F., Elman, L. B., Deerlin, V. M. V., & Lee, E. B. (2015) · Neurology · doi:10.1212/wnl.0000000000001495 · Cited by 71 · see citing works
Structural and diffusion imaging versus clinical assessment to monitor amyotrophic lateral sclerosis
Cárdenas‐Blanco, A., Machts, J., Acosta‐Cabronero, J., Kaufmann, J., Abdulla, S., Kollewe, K., Petri, S., Schreiber, S., Heinze, H., Dengler, R., et al. (2016) · NeuroImage Clinical · doi:10.1016/j.nicl.2016.03.011 · Cited by 62 · see citing works
Patterns of regional cerebellar atrophy in genetic frontotemporal dementia
Bocchetta, M., Cardoso, M. J., Cash, D. M., Sebastien Ourselin, A., Warren, J. D., & Rohrer, J. D. (2016) · NeuroImage Clinical · doi:10.1016/j.nicl.2016.02.008 · Cited by 61 · see citing works
Frontal Behavioural Inventory in the differential diagnosis of dementia
Milan, G., Lamenza, F., Iavarone, A., Galeone, F., Loré, E., Falco, C. D., Sorrentino, P., & Postiglione, A. (2008) · Acta Neurologica Scandinavica · doi:10.1111/j.1600-0404.2007.00934.x · Cited by 60 · see citing works
Whole-brain magnetic resonance spectroscopic imaging measures are related to disability in ALS
Stagg, C. J., Knight, S., Talbot, K., Jenkinson, M., Maudsley, A. A., & Turner, M. R. (2013) · Neurology · doi:10.1212/wnl.0b013e318281ccec · Cited by 58 · see citing works
Ensuring continued progress in biomarkers for amyotrophic lateral sclerosis
Turner, M. R., & Benatar, M. G. (2014) · Muscle & Nerve · doi:10.1002/mus.24470 · Cited by 56 · see citing works
Rascovsky, K., Salmon, D. P., Hansen, L. A., & Galasko, D. R. (2008) · Journal of the International Neuropsychological Society · doi:10.1017/s135561770808051x · Cited by 52 · see citing works
Magnetic resonance spectroscopy of the cervical cord in amyotrophic lateral sclerosis
Carew, J. D., Nair, G., Pineda, N., Usher, S., Hu, X. P., & Benatar, M. G. (2010) · Amyotrophic Lateral Sclerosis · doi:10.3109/17482968.2010.515223 · Cited by 50 · see citing works
Progress towards a neuroimaging biomarker for amyotrophic lateral sclerosis
Filippi, M., Agosta, F., Großkreutz, J., Benatar, M. G., Kassubek, J., Verstraete, E., & Turner, M. R. (2015) · The Lancet Neurology · doi:10.1016/s1474-4422(15)00134-9 · Cited by 48 · see citing works
Clinical Characteristics of C9ORF72-Linked Frontotemporal Lobar Degeneration
Kaivorinne, A.-L., Bode, M. K., Paavola, L. E., Tuominen, H. J., Kallio, M., Renton, A. E., Traynor, B. J., Moilanen, V., & Remes, A. M. (2013) · Dementia and Geriatric Cognitive Disorders Extra · doi:10.1159/000351859 · Cited by 33 · see citing works
Self-citationRelating brain anatomy and cognitive ability using a multivariate multimodal framework
Cook, P. A., McMillan, C. T., Avants, B., Peelle, J. E., Gee, J. C., & Grossman, M. (2014) · NeuroImage · doi:10.1016/j.neuroimage.2014.05.008 · Cited by 28 · see citing works
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Umoh, M. E., Dammer, E. B., Dai, J., Duong, D. M., Lah, J. J., Levey, A. I., Gearing, M., Glass, J. D., & Seyfried, N. T. (2017) · EMBO Molecular Medicine · doi:10.15252/emmm.201708202 · Cited by 154 · see citing works
Bertrand, A., Wen, J., Rinaldi, D., Houot, M., Sayah, S., Camuzat, A., Fournier, C., Fontanella, S., Routier, A., Couratier, P., et al. (2018) · JAMA Neurology · doi:10.1001/jamaneurol.2017.4266 · Cited by 146 · see citing works
Gendron, T. F., Daughrity, L. M., Heckman, M. G., Diehl, N. N., Wuu, J., Miller, T. M., Pástor, P., Trojanowski, J. Q., Grossman, M., Berry, J. D., et al. (2017) · Annals of Neurology · doi:10.1002/ana.24980 · Cited by 112 · see citing works
Self-citationPanman, J. L., Jiskoot, L. C., Bouts, M. J. R. J., Meeter, L. H. H., van der Ende, E. L., Poos, J. M., Feis, R. A., Kievit, A. J. A., van Minkelen, R., Dopper, E. G. P., et al. (2019) · Neurobiology of Aging · doi:10.1016/j.neurobiolaging.2018.12.017 · Cited by 96 · see citing works
Presymptomatic spinal cord pathology in c9orf72 mutation carriers: A longitudinal neuroimaging study
Querin, G., Bede, P., Mendili, M. M. E., Li, M., Pélégrini‐Issac, M., Rinaldi, D., Catala, M., Saracino, D., Salachas, F., Camuzat, A., et al. (2019) · Annals of Neurology · doi:10.1002/ana.25520 · Cited by 95 · see citing works
Benbrika, S., Desgranges, B., Eustache, F., & Viader, F. (2019) · Frontiers in Neuroscience · doi:10.3389/fnins.2019.00951 · Cited by 95 · see citing works
Cognition and gray and white matter characteristics of presymptomatic C9orf72 repeat expansion
Papma, J. M., Jiskoot, L. C., Panman, J. L., Dopper, E. G. P., den Heijer, T., Kaat, L. D., Pijnenburg, Y. A. L., Meeter, L. H. H., van Minkelen, R., Rombouts, S. A. R. B., et al. (2017) · Neurology · doi:10.1212/wnl.0000000000004393 · Cited by 93 · see citing works
Chipika, R. H., Finegan, E., Shing, S. L. H., Hardiman, O. M., & Bede, P. (2019) · Frontiers in Neurology · doi:10.3389/fneur.2019.00229 · Cited by 93 · see citing works
Bede, P., Iyer, P. M., Finegan, E., Omer, T., & Hardiman, O. M. (2017) · NeuroImage Clinical · doi:10.1016/j.nicl.2017.06.010 · Cited by 91 · see citing works
Genotype–phenotype links in frontotemporal lobar degeneration
Mossevelde, S. V., Engelborghs, S., van der Zee, J., & Broeckhoven, C. V. (2018) · Nature Reviews Neurology · doi:10.1038/s41582-018-0009-8 · Cited by 88 · see citing works
Psychiatric Symptoms in Amyotrophic Lateral Sclerosis: Beyond a Motor Neuron Disorder
Zucchi, E., Ticozzi, N., & Mandrioli, J. (2019) · Frontiers in Neuroscience · doi:10.3389/fnins.2019.00175 · Cited by 85 · see citing works
Chipika, R. H., Finegan, E., Shing, S. L. H., McKenna, M. C., Christidi, F., Chang, K. M., Doherty, M. A., Hengeveld, J. C., Vajda, A., Pender, N. P., et al. (2020) · NeuroImage Clinical · doi:10.1016/j.nicl.2020.102300 · Cited by 76 · see citing works
Amygdala pathology in amyotrophic lateral sclerosis and primary lateral sclerosis.
Chipika, R., Christidi, F., Finegan, E., Shing, S. L. H., McKenna, M., Chang, K.-M., Karavasilis, E., Doherty, M., Hengeveld, J., Vajda, A., et al. (2020) · Journal of Neurological Sciences · doi:10.1016/j.jns.2020.117039 · Cited by 67 · see citing works
Elahi, F. M., Marx, G., Cobigo, Y., Staffaroni, A. M., Kornak, J., Tosun, D., Boxer, A. L., Kramer, J. H., Miller, B. L., & Rosen, H. J. (2017) · NeuroImage: Clinical · doi:10.1016/j.nicl.2017.09.007 · Cited by 59 · see citing works
Structural and functional brain signatures of C9orf72 in motor neuron disease
Agosta, F., Ferraro, P. M., Riva, N., Spinelli, E. G., Domi, T., Carrera, P., Copetti, M., Falzone, Y., Ferrari, M., Lunetta, C., et al. (2017) · Neurobiology of Aging · doi:10.1016/j.neurobiolaging.2017.05.024 · Cited by 63 · see citing works
Rosen, H. J., Boeve, B. F., & Boxer, A. L. (2020) · Alzheimer's & Dementia · doi:10.1002/alz.12004 · Cited by 55 · see citing works
Schönecker, S., Neuhofer, C. M., Otto, M., Ludolph, A. C., Kassubek, J., Landwehrmeyer, G. B., Anderl‐Straub, S., Semler, E., Diehl‐Schmid, J., Prix, C., et al. (2018) · Frontiers in Aging Neuroscience · doi:10.3389/fnagi.2018.00045 · Cited by 55 · see citing works
The presymptomatic phase of amyotrophic lateral sclerosis: are we merely scratching the surface?
Chipika, R. H., Siah, W. F., McKenna, M. C., Shing, S. L. H., Hardiman, O. M., & Bede, P. (2020) · Journal of Neurology · doi:10.1007/s00415-020-10289-5 · Cited by 53 · see citing works
Longitudinal diffusion imaging across the <i>C9orf72</i> clinical spectrum
Floeter, M. K., Danielian, L. E., Braun, L. E., & Wu, T. (2018) · Journal of Neurology, Neurosurgery & Psychiatry · doi:10.1136/jnnp-2017-316799 · Cited by 51 · see citing works
Self-citationGray matter changes in asymptomatic C9orf72 and GRN mutation carriers
Popuri, K., Dowds, E., Beg, M. F., Balachandar, R., Bhalla, M., Jacova, C., Buller, A., Slack, P., Sengdy, P., Rademakers, R., et al. (2018) · NeuroImage Clinical · doi:10.1016/j.nicl.2018.02.017 · Cited by 48 · see citing works
Neuroimaging in genetic frontotemporal dementia and amyotrophic lateral sclerosis
Häkkinen, S., Chu, S. A., & Lee, S. E. (2020) · Neurobiology of Disease · doi:10.1016/j.nbd.2020.105063 · Cited by 42 · see citing works
Shing, S. L. H., McKenna, M. C., Siah, W. F., Chipika, R. H., Hardiman, O. M., & Bede, P. (2021) · Brain Imaging and Behavior · doi:10.1007/s11682-020-00429-w · Cited by 42 · see citing works
Staffaroni, A. M., Goh, S.-Y. M., Cobigo, Y., Ong, E., Lee, S. E., Casaletto, K. B., Wolf, A., Forsberg, L. K., Ghoshal, N., Graff-Radford, N. R., et al. (2020) · JAMA Network Open · doi:10.1001/jamanetworkopen.2020.22847 · Cited by 41 · see citing works
Frontotemporal Pathology in Motor Neuron Disease Phenotypes: Insights From Neuroimaging
McKenna, M. C., Corcia, P., Couratier, P., Siah, W. F., Pradat, P., & Bede, P. (2021) · Frontiers in Neurology · doi:10.3389/fneur.2021.723450 · Cited by 40 · see citing works
Diehl‐Schmid, J., Licata, A. E., Goldhardt, O., Förstl, H., Yakushew, I., Otto, M., Anderl‐Straub, S., Beer, A. J., Ludolph, A. C., Landwehrmeyer, G. B., et al. (2019) · Translational Psychiatry · doi:10.1038/s41398-019-0381-1 · Cited by 35 · see citing works
Liu, S., Ren, Q., Gong, G., Sun, Y., Zhao, B. Q., Ma, X., Zhang, N., Zhong, S., Lin, Y., Wang, W., et al. (2021) · Journal of Neurology · doi:10.1007/s00415-021-10900-3 · Cited by 34 · see citing works
Bede, P., Lulé, D. E., Müller, H., Tan, E. L., Dorst, J., Ludolph, A. C., & Kassubek, J. (2023) · Journal of Neurology · doi:10.1007/s00415-023-11764-5 · Cited by 33 · see citing works
Cortical markers of cognitive syndromes in amyotrophic lateral sclerosis
Consonni, M., Contarino, V. E., Catricalà, E., Bella, E. D., Pensato, V., Gellera, C., Lauria, G., & Cappa, S. F. (2018) · NeuroImage Clinical · doi:10.1016/j.nicl.2018.05.020 · Cited by 33 · see citing works
Floeter, M. K., & Gendron, T. F. (2018) · Frontiers in Neurology · doi:10.3389/fneur.2018.01063 · Cited by 33 · see citing works
Self-citationSattler, R., Traynor, B. J., Robertson, J., Bosch, L. V. D., Barmada, S. J., Svendsen, C. N., Disney, M. D., Gendron, T. F., Wong, P. C., Turner, M. R., et al. (2023) · Neurology and Therapy · doi:10.1007/s40120-023-00548-8 · Cited by 32 · see citing works
Self-citationBrain signal intensity changes as biomarkers in amyotrophic lateral sclerosis
Vazquez-Costa, J. F., Mazón, M., Polo, J. C., Hervás, D., Pérez‐Tur, J., Martí‐Bonmatí, L., & Sevilla, T. (2017) · Acta Neurologica Scandinavica · doi:10.1111/ane.12863 · Cited by 32 · see citing works
Christidi, F., Argyropoulos, G. D., Karavasilis, E., Velonakis, G., Zouvelou, V., Kourtesis, P., Pantoleon, V., Tan, E. L., Daponte, A., Aristeidou, S., et al. (2023) · Life · doi:10.3390/life13020571 · Cited by 31 · see citing works
Zejlon, C., Nakhostin, D., Winklhofer, S. F.-X., Pangalu, A., Kulcsár, Z., Lewandowski, S. A., Finnsson, J., Piehl, F., Ingre, C., Granberg, T., et al. (2022) · Frontiers in Neurology · doi:10.3389/fneur.2022.947347 · Cited by 30 · see citing works
Longitudinal Effects of Asymptomatic C9orf72 Carriership on Brain Morphology
van Veenhuijzen, K., Westeneng, H., Tan, H. H. G., Nitert, A. D., van der Burgh, H. K., Gosselt, I. K., van Es, M. A., Nijboer, T. C. W., Veldink, J. H., & van den Berg, L. H. (2022) · Annals of Neurology · doi:10.1002/ana.26572 · Cited by 32 · see citing works
Loss of functional connectivity is an early imaging marker in primary lateral sclerosis
Clark, M. G., Shoukry, R. S., Huang, C. J., Danielian, L. E., Bageac, D. V., & Floeter, M. K. (2018) · Amyotrophic Lateral Sclerosis and Frontotemporal Degeneration · doi:10.1080/21678421.2018.1517180 · Cited by 28 · see citing works
Self-citationChen, Q., & Kantarci, K. (2020) · Frontiers in Neurology · doi:10.3389/fneur.2020.00080 · Cited by 27 · see citing works
Neurodevelopmental effects of genetic frontotemporal dementia in young adult mutation carriers
Finger, E. C., Malik, R., Bocchetta, M., Coleman, K. K. L., Graff, C., Borroni, B., Masellis, M., Laforce, R. J., Greaves, C. V., Russell, L. L., et al. (2022) · Brain · doi:10.1093/brain/awac446 · Cited by 29 · 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
van der Burgh, H. K., Westeneng, H., Meier, J. M., van Es, M. A., Veldink, J. H., Hendrikse, J., van den Heuvel, M. P., & van den Berg, L. H. (2019) · NeuroImage Clinical · doi:10.1016/j.nicl.2019.101984 · Cited by 25 · see citing works
van der Geest, A. T., Jakobs, C. E., Ljubikj, T., Huffels, C. F. M., Luna, M. C., de Sá, R. V., Adolfs, Y., de Wit, M., Rutten, D. H., Kaal, M., et al. (2024) · Acta Neuropathologica Communications · doi:10.1186/s40478-024-01857-1 · Cited by 23 · see citing works
McKenna, M. C., Lope, J., Bede, P., & Tan, E. L. (2023) · Brain and Behavior · doi:10.1002/brb3.2881 · Cited by 23 · see citing works
Nigri, A., Manera, U., Stanziano, M., Ferraro, S., Fedeli, D., Medina, J. P., Palermo, S., Lequio, L., Denegri, F., Agosta, F., et al. (2023) · NeuroImage Clinical · doi:10.1016/j.nicl.2023.103400 · Cited by 23 · see citing works
Ventricular volume expansion in presymptomatic genetic frontotemporal dementia
Tavares, T. P., Mitchell, D. G. V., Coleman, K. K. L., Shoesmith, C. L., Bartha, R., Cash, D. M., Moore, K. M., Swieten, J. C. V., Borroni, B., Galimberti, D., et al. (2019) · Neurology · doi:10.1212/wnl.0000000000008386 · Cited by 22 · see citing works
Distinct patterns of progressive gray and white matter degeneration in amyotrophic lateral sclerosis
Ishaque, A. H., Ta, D., Khan, M. H., Zinman, L. H., Korngut, L. W., Genge, A. L., Dionne, A., Briemberg, H., Luk, C., Yang, Y., et al. (2021) · Human Brain Mapping · doi:10.1002/hbm.25738 · Cited by 22 · see citing works
Müller, H., Lulé, D. E., Roselli, F., Behler, A., Ludolph, A. C., & Kassubek, J. (2021) · Therapeutic Advances in Chronic Disease · doi:10.1177/20406223211002969 · Cited by 21 · see citing works
Ta, D., Ishaque, A. H., Srivastava, O., Hanstock, C. C., Seres, P., Eurich, D. T., Luk, C., Briemberg, H., Frayne, R., Genge, A. L., et al. (2021) · Neurology · doi:10.1212/wnl.0000000000012367 · Cited by 21 · see citing works
Querin, G., Biferi, M. G., & Pradat, P. (2021) · Journal of Neuromuscular Diseases · doi:10.3233/jnd-210754 · Cited by 20 · see citing works
Lin, Z.-Q., Kim, E., Ahmed, M., Han, G., Simmons, C., Redhead, Y. T., Bartlett, J., Altamira, L. E. P., Callaghan, I., White, M. A., et al. (2021) · Brain Communications · doi:10.1093/braincomms/fcab114 · Cited by 17 · see citing works
Dieckmann, N., Roediger, A., Prell, T., Schuster, S., Herdick, M. L., Mayer, T. E., Witte, O. W., Steinbach, R., & Großkreutz, J. (2022) · NeuroImage Clinical · doi:10.1016/j.nicl.2022.103162 · Cited by 19 · see citing works
Regional prefrontal cortical atrophy predicts specific cognitive-behavioral symptoms in ALS-FTD
Ratti, E., Domoto‐Reilly, K., Caso, C., Murphy, A., Brickhouse, M. J., Hochberg, D., Makris, N., Cudkowicz, M., & Dickerson, B. C. (2021) · Brain Imaging and Behavior · doi:10.1007/s11682-021-00456-1 · Cited by 17 · see citing works
Shoukry, R. S., Waugh, R. E., Bartlett, D., Raitcheva, D., & Floeter, M. K. (2020) · NeuroImage Clinical · doi:10.1016/j.nicl.2020.102354 · Cited by 16 · see citing works
Self-citationMcKenna, M. C., Lope, J., Tan, E. L., & Bede, P. (2022) · Brain Imaging and Behavior · doi:10.1007/s11682-022-00711-z · Cited by 15 · see citing works
Consonni, M., Bella, E. D., Nigri, A., Pinardi, C., Demichelis, G., Porcu, L., Gellera, C., Pensato, V., Cappa, S. F., Bruzzone, M. G., et al. (2019) · Frontiers in Neuroscience · doi:10.3389/fnins.2019.00440 · Cited by 15 · see citing works
Role of Optical Coherence Tomography in Identifying Retinal Biomarkers in Frontotemporal Dementia
Moinuddin, O., Khandwala, N. S., Young, K. Z., Sathrasala, S. K., Barmada, S. J., Albin, R. L., & Besirli, C. G. (2021) · Neurology Clinical Practice · doi:10.1212/cpj.0000000000001041 · Cited by 13 · see citing works
Gagliardi, D., Costamagna, G., Taiana, M. M., Andreoli, L., Biella, F., Bersani, M., Bresolin, N., Comi, G. P., & Corti, S. P. (2020) · Ageing Research Reviews · doi:10.1016/j.arr.2020.101172 · Cited by 11 · see citing works
Resting State Functional Connectivity Is Decreased Globally Across the C9orf72 Mutation Spectrum
Shoukry, R. S., Clark, M. G., & Floeter, M. K. (2020) · Frontiers in Neurology · doi:10.3389/fneur.2020.598474 · Cited by 10 · see citing works
Self-citationCagnin, A., Pigato, G., Pettenuzzo, I., Zorzi, G., Roiter, B., Anglani, M. G., Bussè, C., Mozzetta, S., Gabelli, C., Campi, C., et al. (2024) · Neurobiology of Aging · doi:10.1016/j.neurobiolaging.2024.01.015 · Cited by 9 · see citing works
Longitudinal changes in network homogeneity in presymptomatic C9orf72 mutation carriers
Waugh, R. E., Danielian, L. E., Shoukry, R. S., & Floeter, M. K. (2020) · Neurobiology of Aging · doi:10.1016/j.neurobiolaging.2020.11.014 · Cited by 9 · see citing works
Self-citationFieldhouse, J. L. P., van Paassen, D. N., van Engelen, M.-P. E., De Boer, S. C. M., Hartog, W. L., Braak, S., Schoonmade, L. J., Schouws, S. N. T. M., Krudop, W. A., Oudega, M. L., et al. (2024) · Frontiers in Aging Neuroscience · doi:10.3389/fnagi.2024.1382593 · Cited by 8 · see citing works
Michelutti, M., Huppertz, H., Volkmann, H., Anderl‐Straub, S., Urso, D., Tafuri, B., Nigro, S. L., Manganotti, P., Werner, L., Lombardi, J., et al. (2025) · Journal of Neurology · doi:10.1007/s00415-025-13215-9 · Cited by 7 · see citing works
Neuropsychiatric Manifestations of Amyotrophic Lateral Sclerosis
Kutlubaev, M. A., Владимировна, П. Е., Areprintseva, D. K., Mendelevich, В. D., & Brylev, L. (2023) · Neuroscience and Behavioral Physiology · doi:10.1007/s11055-023-01366-z · Cited by 6 · see citing works
Resting‐state fMRI functional connectome of C9orf72 mutation status
Stanziano, M., Fedeli, D., Manera, U., Ferraro, S., Medina, J. P., Palermo, S., Sciortino, P., Cogoni, M., Agosta, F., Basaia, S., et al. (2024) · Annals of Clinical and Translational Neurology · doi:10.1002/acn3.51989 · Cited by 5 · see citing works
A comprehensive update on neuroimaging endpoints in amyotrophic lateral sclerosis
Filippi, M., Ghirelli, A., Spinelli, E. G., & Agosta, F. (2025) · Expert Review of Neurotherapeutics · doi:10.1080/14737175.2025.2470324 · Cited by 5 · see citing works
Neuropsychiatric presentations of amyotrophic lateral sclerosis
Kutlubaev, M. A., Владимировна, П. Е., Areprintseva, D. K., Mendelevich, V. D., & Brylev, L. (2022) · S S Korsakov Journal of Neurology and Psychiatry · doi:10.17116/jnevro202212205136 · Cited by 5 · see citing works
Mismatch between clinically defined classification of ALS stage and the burden of cerebral pathology
Parnianpour, P., Benatar, M. G., Briemberg, H., Dey, A., Dionne, A., Dupré, N., Evans, K. C., Frayne, R., Genge, A. L., Graham, S. J., et al. (2024) · Journal of Neurology · doi:10.1007/s00415-024-12190-x · Cited by 4 · see citing works
Electrical impedance myography (EIM) in a natural history study of C9ORF72 mutation carriers
Offit, M. B., Wu, T., Floeter, M. K., & Lehky, T. (2020) · Amyotrophic Lateral Sclerosis and Frontotemporal Degeneration · doi:10.1080/21678421.2020.1752247 · Cited by 4 · see citing works
Self-citationTrubshaw, M., Gohil, C., Edmond, E., Proudfoot, M., Yoganathan, K. T., Wuu, J., Northall, A., Kohl, O., Stagg, C. J., Nobre, A. C., et al. (2025) · Human Brain Mapping · doi:10.1002/hbm.70345 · Cited by 2 · see citing works
Thalamic volume as a susceptibility/risk biomarker for C9orf72 phenoconversionPreprint
Shen, T., Wuu, J., Olm, C. A., Radhakrishnan, H., Li, Y., Pattany, P. M., Granit, V., Carberry, N., Irwin, D. J., Massimo, L. M., et al. (2025) · medRxiv · doi:10.1101/2025.09.20.25336234 · Cited by 1 · see citing works
Characterizing Cerebral Degeneration in Amyotrophic Lateral Sclerosis with Texture Analysis
Ishaque, A. H. (2020) · ERA: Education and Research Archive (University of Alberta) · doi:10.7939/r3-65xc-5r84
Soriani, M.-H., Blasco, H., Corcia, P., Danel-Brunaud, V., Desmaison, A., Pradat, P., Querin, G., Vourc’h, P., & Guy, N. (2025) · Revue Neurologique · doi:10.1016/j.neurol.2025.07.008
Brain metabolic connectivity in ALS due to C9ORF72 hexanucleotide expansion: a [18F]FDG-PET study
Canosa, A., Callegaro, S., Manera, U., Vasta, R., Cabras, S., Pede, F. D., Mattei, F. D., Palumbo, F., Iazzolino, B., Giudici, A. D., et al. (2025) · European Journal of Nuclear Medicine and Molecular Imaging · doi:10.1007/s00259-025-07705-1
Composite grey matter fingerprints for genetic frontotemporal dementia
Bouzigues, A., Campana, G., Joulot, M., Gensollen, N., Russell, L. L., Foster, P. H., Ferry‐Bolder, E., Swieten, J. C. V., Jiskoot, L. C., Seelaar, H., et al. (2026) · Journal of Neurology Neurosurgery & Psychiatry · doi:10.1136/jnnp-2025-337186 · Cited by 2 · see citing works
Unravelling the tangle of motor neuron diseases : insights from neuroimaging and neurophysiology
Querin, G. (2019) · theses.fr (ABES) · doi:10.70675/30ad3e2az5051z4364z9ec1z4b8d1f952b7b
Zhang, L., Häkkinen, S., Jung, Y., Mandelli, M. L., Leichter, D., Onyike, C. U., Rojas, J. C., Lombardi, J., Gorno‐Tempini, M. L., Yokoyama, J. S., et al. (2026) · Alzheimer s & Dementia · doi:10.1002/alz.71744
Sun, J., Vocht, J. D., Laroy, M., Stam, D., Lien, C.-H., Lamaire, N., D’Hondt, A., Peeters, R., Sunaert, S. G., Damme, P. V., et al. (2026) · Annals of Neurology · doi:10.1002/ana.78355
- Authors
- Floeter, M. K., Bageac, D., Danielian, L. E., Braun, L. E., Traynor, B. J., & Kwan, J. Y.
- Affiliations
- National Institutes of Health (US)
- University of Maryland, Baltimore (US)
- Corresponding author
- Floeter, Mary Kay
- Venue
- NeuroImage: Clinical
- Publisher
- Elsevier BV
- Published
- 2016-02
- Volume
- 12
- Pages
- 1035-1043
- ISSN
- 2213-1582 (ISSN-L)
- PMC
- PMC5153604
- OpenAlex
- W2535439450
- Cited by
- 75
- References
- 65
- Citations by year
- 2026: 3 · 2025: 6 · 2024: 5 · 2023: 6 · 2022: 6 · 2021: 10 · 2020: 13 · 2019: 10 · 2018: 8 · 2017: 8
- FWCI
- 6.51
- Type
- journal article
- Language
- en
- Open access
- gold
- doi.org
- Licence
- Locations
- NeuroImage Clinical (publishedVersion, cc-by)
- PubMed Central (publishedVersion, cc-by)
- PubMed (publishedVersion)
- DOAJ (DOAJ: Directory of Open Access Journals) (submittedVersion, cc-by-sa)
- Funders
- National Institutes of Health
- National Institute of Neurological Disorders and Stroke (Z01 NS003146)
- National Institute on Aging (Z01 AG000933)
- Topics
- Health Sciences › Medicine › Neurology › Amyotrophic Lateral Sclerosis Research
- Life Sciences › Neuroscience › Cellular and Molecular Neuroscience › Genetic Neurodegenerative Diseases
- Health Sciences › Medicine › Psychiatry and Mental health › Dementia and Cognitive Impairment Research
- Keywords
- amyotrophic lateral sclerosis, frontotemporal dementia, ALS-FTD, longitudinal MRI, cortical thinning, ventriculomegaly, thalamic atrophy, brain atrophy, phonemic fluency, cognitive impairment, genotype-phenotype correlation, asymptomatic mutation carriers, sporadic ALS
- MeSH terms
- C9orf72 Protein, Adult, Aged, Amyotrophic Lateral Sclerosis, Atrophy, Cerebral Cortex, Cerebral Ventricles, Female, Follow-Up Studies, Heterozygote, Humans, Magnetic Resonance Imaging, Male, Middle Aged, Mutation, Phenotype, Disease Progression, Frontotemporal Dementia
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