Very early-onset behavioral variant frontotemporal dementia in a patient with a variant of uncertain significance of a FUS gene mutation

References

• Ando, K., Ferlini, L., Suain, V., Yilmaz, Z., Mansour, S., Le Ber, I., Bouchard, C., Leroy , K., Durr, A., Clot, F., Sarazin, M., Bier, J.C., Brion, J.P. . (2020). De Novo MAPT mutation G335A causes severe brain atrophy, 3R and 4R PHF-Tau pathology and early onset frontotemporal dementia. Acta Neuropathologica Communications, 8, 94. https://doi.org/10.1186/s40478-020-00977-8
   PubMed Web of Science ®Google Scholar
• Beagle, A. J., Darwish, S. M., Ranasinghe, K. G., La, A. L., Karageorgiou, E., & Vossel, K. A. (2017). Relative incidence of seizures and myoclonus in Alzheimer’s disease, dementia with lewy bodies, and frontotemporal dementia. Journal of Alzheimer’s Disease: JAD, 60, 211–223. https://doi.org/10.3233/JAD-170031
   PubMed Web of Science ®Google Scholar
• Bradfield, N. I., McLean, C., Drago, J., Darby, D. G., & Ames, D. (2017). Rapidly progressive fronto-temporal dementia (FTD) associated with frontotemporal lobar degeneration (FTLD) in the presence of fused in sarcoma (FUS) protein: A rare, sporadic, and aggressive form of FTD. International Psychogeriatrics/IPA, 29, 1743–1746. https://doi.org/10.1017/S1041610217001193
   PubMed Web of Science ®Google Scholar
• Coyle-Gilchrist, I. T. S., Dick, K. M., Patterson, K., Vázquez Rodríquez, P., Wehmann, E., Wilcox, A., Lansdall, C. J., Dawson, K. E., Wiggins, J., Mead, S., Brayne, C., Rowe, J. B. (2016). Prevalence, characteristics, and survival of frontotemporal lobar degeneration syndromes. Neurology, 86, 1736–1743. https://doi.org/10.1212/WNL.0000000000002638
   PubMed Web of Science ®Google Scholar
• Dodd, K. C., Power, R., Ealing, J., & Hamdalla, H. (2019). FUS-ALS presenting with myoclonic jerks in a 17-year-old man. Amyotrophic Lateral Sclerosis & Frontotemporal Degeneration, 20, 278–280. https://doi.org/10.1080/21678421.2019.1582665
   PubMed Web of Science ®Google Scholar
• Geschwind, M. D. (2016). Rapidly progressive dementia. CONTINUUM Lifelong Learning in Neurology, 22, 510–537. https://doi.org/10.1212/CON.0000000000000319
   Google Scholar
• Geschwind, M. D., Haman, A., & Miller, B. L. (2007). Rapidly progressive dementia. Neurologic Clinics, 25, 783–807. https://doi.org/10.1016/j.ncl.2007.04.001
   PubMed Web of Science ®Google Scholar
• Ghetti, B., Buratti, E., Boeve, B., & Rademakers, R. (Eds.) (2021). Frontotemporal Dementias. Advances in experimental medicine and biology (Vol. 1281, pages 1, 17, 83). Springer International Publishing.
   Google Scholar
• Gorno-Tempini, M. L., Hillis, A. E., Weintraub, S., Kertesz, A., Mendez, M., Cappa, S. F., Ogar, J. M., Rohrer, J. D., Black, S., Boeve, B. F., Manes, F., Dronkers, N. F., Vandenberghe, R., Rascovsky, K., Patterson, K., Miller, B. L., Knopman, D. S., Hodges, J. R., Mesulam, M. M., Grossman, M. (2011). Classification of primary progressive aphasia and its variants. Neurology, 76, 1006–1014. https://doi.org/10.1212/WNL.0b013e31821103e6
   PubMed Web of Science ®Google Scholar
• Gowell, M., Baker, I., Ansorge, O., & Husain, M. (2021). Young-onset frontotemporal dementia with FUS pathology. Practical Neurology, 21, 149–152. https://doi.org/10.1136/practneurol-2020-002730
   Google Scholar
• Greaves, C. V., & Rohrer, J. D. (2019). An update on genetic frontotemporal dementia. Journal of Neurology, 266, 2075–2086. https://doi.org/10.1007/s00415-019-09363-4
   PubMed Web of Science ®Google Scholar
• Hendriks, S. et al. (2021). Global Prevalence of Young-Onset Dementia. JAMA Neurology, 78, 1080 https://doi.org/10.1001/jamaneurol.2021.2161
   PubMed Web of Science ®Google Scholar
• Jee, B., Spina, S., & Miller, B. L. (2015). Frontotemporal dementia. The Lancet, 386, 1672–1682. https://doi.org/10.1016/S0140-6736(15)00461-4
   PubMed Web of Science ®Google Scholar
• Jessica, D., & Miller, B. L. (2018). Frontotemporal dementia (Vol. 148, 1st ed.). Elsevier B.V.
   Google Scholar
• Josephs, K. A., & Dickson, D. W. (2007). Hippocampal sclerosis in tau-negative frontotemporal lobar degeneration. Neurobiology of Aging, 28, 1718–1722. https://doi.org/10.1016/j.neurobiolaging.2006.07.010
   PubMed Web of Science ®Google Scholar
• Karina, C., Hirsch-Reinshagen, V., Perez-Rosendahl, M., Feldman, H., Segal-Gidan, F., Vinters, H. V., & Mackenzie, I. R. (2020). Expanding the phenotype of frontotemporal lobar degeneration with FUS-positive pathology (FTLD-FUS). Journal of Neuropathology and Experimental Neurology, 79, 809–812. https://doi.org/10.1093/jnen/nlaa045
   PubMed Web of Science ®Google Scholar
• Khan, B. K., Woolley, J. D., Chao, S., See, T., Karydas, A. M., Miller, B. L., & Rankin, K. P. (2012). Schizophrenia or neurodegenerative disease prodrome? Outcome of a first psychotic episode in a 35-year-old woman. Psychosomatics, 53, 280–284. https://doi.org/10.1016/j.psym.2011.04.005
   PubMed Web of Science ®Google Scholar
• Kobayashi, T., Ota, S., Tanaka, K., Ito, Y., Hasegawa, M., Umeda, Y., Motoi, Y., Takanashi, M., Yasuhara, M., Anno, M., Mizuno, Y., Mori, H. (2003). A novel L266V mutation of the tau gene causes frontotemporal dementia with a unique tau pathology. Annals of Neurology, 53, 133–137. https://doi.org/10.1002/ana.10447
   PubMed Web of Science ®Google Scholar
• Kwiatkowski, T. J., Jr., Bosco, D. A., Leclerc, A. L., Tamrazian, E., Vanderburg, C. R., Russ, C., Davis, A., Gilchrist, J., Kasarskis, E. J., Munsat, T., Valdmanis, P., Rouleau, G. A., Hosler, B. A., Cortelli, P., de Jong, P. J., Yoshinaga, Y., Haines, J. L., Pericak-Vance, M. A., Yan, J., Ticozzi, N., Brown Jr., R. H. (2009). Mutations in the FUS/TLS gene on chromosome 16 cause familial amyotrophic lateral sclerosis. Science, 323, 1205–1208. https://doi.org/10.1126/science.1166066
   PubMed Web of Science ®Google Scholar
• Lanata, S. C., & Miller, B. L. (2016). The behavioural variant frontotemporal dementia (bvFTD) syndrome in psychiatry. Journal of Neurology, Neurosurgery, and Psychiatry, 87, 501–511. https://doi.org/10.1136/jnnp-2015-310697
   PubMed Web of Science ®Google Scholar
• Leroy, M., Bertoux, M., Skrobala, E., Mode, E., Adnet-Bonte, C., Le Ber, I., Bombois, S., Cassagnaud , P., Chen, Y., Deramecourt, V., Lebert, F., Mackowiak, M. A., Rollin Sillaire, A., Wathelet, M., Pasquier, F., Lebouvier, T. (2021) 13:19. Characteristics and progression of patients with frontotemporal dementia in a regional memory clinic network. Alzheimer’s Research & Therapy, 13, 1–11. https://doi.org/10.1186/s13195-020-00753-9
   PubMed Web of Science ®Google Scholar
• Liu, M.-N., Lau, C.-I., & Lin, C.-P. (2019). Precision medicine for frontotemporal dementia. Frontiers in Psychiatry/Frontiers Research Foundation, 10, 1–13. https://doi.org/10.3389/fpsyt.2019.00075
   Google Scholar
• Logroscino, G., Piccininni, M., Binetti, G., Zecca, C., Turrone, R., Capozzo, R., Tortelli, R., Battista, P., Bagoj, E., Barone, R., Fostinelli, S., Benussi, L., Ghidoni, R., Padovani, A., Cappa, S. F., Alberici, A., Borroni, B. (2019). Incidence of frontotemporal lobar degeneration in Italy: The salento-brescia registry study. Neurology, 92, e2355–63. https://doi.org/10.1212/WNL.0000000000007498
   PubMed Web of Science ®Google Scholar
• Loy, C. T., McCusker, E., Kril, J. J., Kwok, J. B., Brooks, W. S., McCann, H., Isaacs, A. M., & Halliday, G. M. (2010). Very early-onset frontotemporal dementia with no family history predicts underlying fused in sarcoma pathology. Brain: A Journal of Neurology, 133, e158. https://doi.org/10.1093/brain/awq186
   PubMed Web of Science ®Google Scholar
• Mackenzie, I. R. A., & Neumann, M. (2017). Fused in sarcoma neuropathology in neurodegenerative disease. Cold Spring Harbor Perspectives in Medicine, 7, 12. https://doi.org/10.1101/cshperspect.a024299
   Web of Science ®Google Scholar
• Manuela, N., Diekmann, S., Bertsch, U., Vanmassenhove, B., Bogerts, B., & Kretzschmar, H. A. (2005). Novel G335V mutation in the tau gene associated with early onset familial frontotemporal dementia. Neurogenetics, 6, 91–95. https://doi.org/10.1007/s10048-005-0210-y
   PubMed Web of Science ®Google Scholar
• Manuela, N., Rademakers, R., Roeber, S., Baker, M., Kretzschmar, H. A., & MacKenzie, I. R. A. (2009). A new subtype of frontotemporal lobar degeneration with FUS pathology. Brain: A Journal of Neurology, 132, 2922–2931. https://doi.org/10.1093/brain/awp214
   PubMed Web of Science ®Google Scholar
• McColgan, P., & Tabrizi, S. J. (2018). Huntington’s Disease: A clinical review. European Journal of Neurology: The Official Journal of the European Federation of Neurological Societies, 25, 24–34. https://doi.org/10.1111/ene.13413
   PubMed Web of Science ®Google Scholar
• Miller, B. L., & Cummings, J. L. (2018). The Human Frontal Lobes: Functions and Disorders, Third Edition , 44 (Guilford Press), 9781462531851.
   Google Scholar
• Mol, M. O., van Rooij, J. G. J., Wong, T. H., Melhem, S., Verkerk, A. J. M. H., Kievit, A. J. A., van Minkelen, R., Rademakers, R., Pottier, C., Donker Kaat, L., Seelaar, H., van Swieten, J. C., Dopper, E. G. P. (2021). Underlying genetic variation in familial frontotemporal dementia: Sequencing of 198 patients. Neurobiology of Aging, 97, 148.e9. https://doi.org/10.1016/j.neurobiolaging.2020.07.014
   Google Scholar
• Momeni, P., DeTucci, K., Straub, R. E., Weinberger, D. R., Davies, P., Grafman, J., Hardy, J., & Huey, E. D. (2010). Progranulin (GRN) in two siblings of a latino family and in other patients with schizophrenia. Neurocase, 16, 273–279. https://doi.org/10.1080/13554790903456209
   PubMed Web of Science ®Google Scholar
• National Center for Biotechnology Information. (). National center for biotechnology information, 2022. https://www.ncbi.nlm.nih.gov/.
   Google Scholar
• Neto, A. S., Soares Neto, H. R., Simabukuro, M. M., Solla, D. J. F., Gonçalves, M. R. R., Fortini, I., Castro, L. H. M., & Nitrini, R. (2017). Rapidly progressive dementia: prevalence and causes in a neurologic unit of a tertiary hospital in Brazil. Alzheimer Disease and Associated Disorders, 31, 239–243. https://doi.org/10.1097/WAD.0000000000000170
   PubMed Web of Science ®Google Scholar
• Neumann, M., & Mackenzie, I. R. A. (2019). Review: Neuropathology of non-tau frontotemporal lobar degeneration. Neuropathology and Applied Neurobiology, 45, 19–40. https://doi.org/10.1111/nan.12526
   PubMed Web of Science ®Google Scholar
• Patil, A., Vishnu, V., Naheed, D., Pulikottil, V., Pandit, A., Goyal, M., Modi, M., & Lal, V. (2017). Rapidly progressive dementia: An eight year (2008-2016) retrospective study. Journal of the Neurological Sciences, 381, 117–118. https://doi.org/10.1016/j.jns.2017.08.367
   PubMed Web of Science ®Google Scholar
• Perry, D. C., Brown, J. A., Possin, K. L., Datta, S., Trujillo, A., Radke, A., Karydas, A., Kornak, J., Sias, A. C, Rabinovici, G. D., Gorno-Tempini, M. L., Boxer, A. L., e May, M., Rankin, K. P., Sturm, V. E., Lee, S. E., Matthews, B. R., Kao, A. W., Vossel, K. A., Miller, B. L., Seeley, W. W. (2017). Clinicopathological correlations in behavioural variant frontotemporal dementia. Brain: A Journal of Neurology, 140, 3329–3345. https://doi.org/10.1093/brain/awx254
   PubMed Web of Science ®Google Scholar
• Rascovsky, K., Hodges, J. R., Knopman, D., Mendez, M. F., Kramer, J. H., Neuhaus, J., van Swieten, J. C., Seelaar, H., Dopper, E. G. P, Onyike, C. U., Hillis, A. E., Josephs, K. A., Boeve, B. F., Kertesz, A., Seeley, W. W., Rankin, K. P., Johnson, J. K., Gorno-Tempini, M. L., Prioleau-Latham, C. E., Grossman, M., Miller, B. L. (2011). Sensitivity of revised diagnostic criteria for the behavioural variant of frontotemporal dementia. Brain: A Journal of Neurology, 134, 2456–2477. https://doi.org/10.1093/brain/awr179
   PubMed Web of Science ®Google Scholar
• Seelaar, H., Klijnsma, K. Y., de Koning, I., van der Lugt, A., Zheng Chiu, W., Azmani, A., Rozemuller, A. J. M., & van Swieten, J. C. (2010). Frequency of ubiquitin and FUS-positive, TDP-43-negative frontotemporal lobar degeneration. Journal of Neurology, 257, 747–753. https://doi.org/10.1007/s00415-009-5404-z
   PubMed Web of Science ®Google Scholar
• Snowden, J. S., Hu, Q., Rollinson, S., Halliwell, N., Robinson, A., Davidson, Y. S., Momeni, P., Baborie, A., Griffiths, T. D., Jaros, E., Perry, R. H., Richardson, A., Pickering-Brown, S. T, Neary, D., Mann, D. M. A (2011). The most common type of FTLD-FUS (aFTLD-U) is associated with a distinct clinical form of frontotemporal dementia but is not related to mutations in the FUS gene. Acta Neuropathologica, 122, 99–110. https://doi.org/10.1007/s00401-011-0816-0
   PubMed Web of Science ®Google Scholar
• Snowden, J. S., Neary, D., & Mann, D. M. A. (2004). Autopsy proven sporadic frontotemporal dementia due to microvacuolar-type histology, with onset at 21 years of age. Journal of Neurology, Neurosurgery, and Psychiatry, 75, 1337–1339. https://doi.org/10.1136/jnnp.2003.028498
   PubMed Web of Science ®Google Scholar
• Spina, S., Murrell, J. R., Yoshida, H., Ghetti, B., Bermingham, N., Sweeney, B., Dlouhy, S. R., Crowther, R. A., Goedert, M., & Keohane, C. (2007). The novel Tau mutation G335S: Clinical, neuropathological and molecular characterization. Acta Neuropathologica, 113, 461–470. https://doi.org/10.1007/s00401-006-0182-5
   PubMed Web of Science ®Google Scholar
• Sun, L., Chen, K., Li, X., & Xiao, S. (2017). Rapidly progressive frontotemporal dementia associated with MAPT mutation G389R. Journal of Alzheimer’s Disease: JAD, 55, 777–785. https://doi.org/10.3233/JAD-160802
   PubMed Web of Science ®Google Scholar
• Takada, L. T. (2015). The genetics of monogenic frontotemporal dementia. Dementia & Neuropsychologia, 9, 219–229. https://doi.org/10.1590/1980-57642015dn93000003
   PubMedGoogle Scholar
• Urwin, H., Josephs, K. A., Rohrer, J. D., Mackenzie, I. R., Neumann, M., Authier, A., Seelaar, H., Van Swieten, J. C., Brown, J. M., Johannsen, P., Nielsen, J. E., Holm, I. E., Dickson, D. W., Rademakers, R., Graff-Radford, N. R., Parisi, J. E., Petersen, R. C., Hatanpaa, K. J., White III, C. L., Miller, B. L., Isaacs, A. M. (2010). FUS pathology defines the majority of tau- and TDP-43-negative frontotemporal lobar degeneration. Acta Neuropathologica, 120, 33–41. https://doi.org/10.1007/s00401-010-0698-6
   PubMed Web of Science ®Google Scholar
• Vance, C., Rogelj, B., Hortobágyi, T., De Vos, K. J., Lumi Nishimura, A., Sreedharan, J., Hu, X., Smith, B., Ruddy, D., Wright, P., Ganesalingam, J., Williams, K. L., Tripathi, V., Al-Saraj, S., Al-Chalabi, A., Leigh, P. N., Blair, I. P., Nicholson, G., de Belleroche, J., Gallo, J. M., Shaw, C. E. (2009). Mutations in FUS, an RNA processing protein, cause familial amyotrophic lateral sclerosis type 6. Science, 323, 1208–1211. https://doi.org/10.1126/science.1165942
   PubMed Web of Science ®Google Scholar
• Van der Emma, E. L., Xiao, M., Xu, D., Poos, J. M., Panman, J. L., Jiskoot, L. C., Meeter, L. H., Dopper, E. G. P., Papma, J. M., Heller, C., Convery, R., Moore, K., Bocchetta, M., Neason, M., Peakman, G., Cash, D. M., Teunissen, C. E., Graff, C., Synofzik, M., Moreno, F., van Swieten, J. C. (2020). Neuronal pentraxin 2: A synapse-derived CSF biomarker in genetic frontotemporal dementia. Neurodegeneration: A Journal for Neurodegenerative Disorders, Neuroprotection, and Neuroregeneration, April.10.1136/jnnp-2019-322493.
   Google Scholar