Parkinsonism, movement disorders and genetics in frontotemporal dementia
Abstract
Frontotemporal dementia (FTD) refers to a group of clinically and genetically heterogeneous neurodegenerative disorders that are a common cause of adult-onset behavioural and cognitive impairment. FTD often presents in combination with various hyperkinetic or hypokinetic movement disorders, and evidence suggests that various genetic mutations underlie these different presentations. Here, we review the known syndromatic-genetic correlations in FTD. Although no direct genotype-phenotype correlations have been identified, mutations in multiple genes have been associated with various presentations. Mutations in the genes that encode microtubule-associated protein tau (MAPT) and progranulin (PGRN) can manifest as symmetrical parkinsonism, including the phenotypes of Richardson syndrome and corticobasal syndrome (CBS). Expansions in the C9orf72 gene are most frequently associated with familial FTD, typically combined with motor neuron disease, but other manifestations, such as symmetrical parkinsonism, CBS and multiple system atrophy-like presentations, have been described in patients with these mutations. Less common gene mutations, such as those in TARDBP, CHMP2B, VCP, FUS and TREM2, can also present as atypical parkinsonism. The most common hyperkinetic movement disorders in FTD are motor and vocal stereotypies, which have been observed in up to 78% of patients with autopsy-proven FTD. Other hyperkinetic movements, such as chorea, orofacial dyskinesias, myoclonus and dystonia, are also observed in some patients with FTD.
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GRN and TMEM106B are reportedly potential genetic risk factors for differential aging in the cerebral cortex and cognitive impairment in amyotrophic lateral sclerosis and Parkinson's disease.
“For instance, GRN and TMEM106B are reportedly potential genetic risk factors for differential aging in the cerebral cortex42 and cognitive impairment in amyotrophic lateral sclerosis43 and Parkinson’s disease44,45.”
From New insights into the genetic etiology of Alzheimer’s disease and related dementias (2022) · cites this paper as [44]
Cites
Amyloid oligomers exacerbate tau pathology in a mouse model of tauopathy
Selenica, M.-L. B., Brownlow, M., Jimenez, J. P., Lee, D. C., Pena, G., Dickey, C. A., Gordon, M. N., & Morgan, D. (2013) · Neurodegenerative Diseases · doi:10.1159/000337230 · Cited by 10,359 · see citing works
Sensitivity of revised diagnostic criteria for the behavioural variant of frontotemporal dementia
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., et al. (2011) · Brain · doi:10.1093/brain/awr179 · Cited by 5,221 · see citing works
Frontotemporal lobar degeneration: A consensus on clinical diagnostic criteria
Neary, D., Snowden, J. S., Gustafson, L., Passant, U., Stuss, D., Black, S., Freedman, M., Kertesz, A., Robert, P. H., Albert, M., et al. (1998) · Neurology · doi:10.1212/wnl.51.6.1546 · Cited by 5,047 · 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
Association of missense and 5′-splice-site mutations in tau with the inherited dementia FTDP-17
Hutton, M., Lendon, C. L., Rizzu, P., Baker, M., Froelich, S., Houlden, H., Pickering-Brown, S., Chakraverty, S., Isaacs, A., Grover, A., et al. (1998) · Nature · doi:10.1038/31508 · Cited by 3,498 · see citing works
<i>TREM2</i> Variants in Alzheimer's Disease
Guerreiro, R., Wojtas, A., Bras, J., Carrasquillo, M., Rogaeva, E., Majounie, E., Cruchaga, C., Sassi, C., Kauwe, J. S. K., Younkin, S., et al. (2013) · New England Journal of Medicine · doi:10.1056/nejmoa1211851 · Cited by 3,020 · see citing works
Weıntraub, S. (1990) · Archives of Neurology · doi:10.1001/archneur.1990.00530120075013 · Cited by 3,012 · see citing works
Appelhof, B., Bakker, C., den IJssel, J. C. L. V. D., Zwijsen, S. A., Smalbrugge, M., Verhey, F. R. J., de Vugt, M. E., Zuidema, S. U., & Koopmans, R. T. C. M. (2017) · Dementia and Geriatric Cognitive Disorders · doi:10.1159/000477087 · Cited by 2,773 · see citing works
Mutations in progranulin cause tau-negative frontotemporal dementia linked to chromosome 17
Baker, M., Mackenzie, I. R., Pickering-Brown, S. M., Gass, J., Rademakers, R., Lindholm, C., Snowden, J., Adamson, J., Sadovnick, A. D., Rollinson, S., et al. (2006) · Nature · doi:10.1038/nature05016 · Cited by 2,058 · see citing works
Criteria for the diagnosis of corticobasal degeneration
Armstrong, M. J., Litvan, I., Lang, A. E., Bak, T. H., Bhatia, K. P., Borroni, B., Boxer, A. L., Dickson, D. W., Grossman, M., Hallett, M., et al. (2013) · Neurology · doi:10.1212/wnl.0b013e31827f0fd1 · Cited by 1,904 · see citing works
Clinical and neuropathological criteria for frontotemporal dementia. The Lund and Manchester Groups.
(1994) · Journal of Neurology, Neurosurgery & Psychiatry · doi:10.1136/jnnp.57.4.416 · Cited by 1,331 · see citing works
Exome Sequencing Reveals VCP Mutations as a Cause of Familial ALS
Johnson, J. O., Mandrioli, J., Benatar, M., Abramzon, Y., Van Deerlin, V. M., Trojanowski, J. Q., Gibbs, J. R., Brunetti, M., Gronka, S., Wuu, J., et al. (2010) · Neuron · doi:10.1016/j.neuron.2010.11.036 · Cited by 1,235 · 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
Bang, J., Spina, S., & Miller, B. L. (2015) · The Lancet · doi:10.1016/s0140-6736(15)00461-4 · Cited by 1,144 · see citing works
Takahashi, K., Rochford, C. D. P., & Neumann, H. (2005) · The Journal of Experimental Medicine · doi:10.1084/jem.20041611 · Cited by 1,124 · see citing works
Longitudinal topography and interdigitation of corticostriatal projections in the rhesus monkey
Selemon, L. D., & Goldman-Rakic, P. S. (1985) · Journal of Neuroscience · doi:10.1523/jneurosci.05-03-00776.1985 · Cited by 1,074 · see citing works
Williams, D. R., de Silva, R., Paviour, D. C., Pittman, A. M., Watt, H., Kilford, L., Holton, J. L., Révész, T., & Lees, A. J. (2005) · Brain · doi:10.1093/brain/awh488 · Cited by 733 · see citing works
Frontotemporal dementia and parkinsonism linked to chromosome 17: A consensus conference
Foster, N. L., Wilhelmsen, K., Sima, A. A. F., Jones, M. Z., D'Amato, C., & Gilman, S. (1997) · Annals of Neurology · doi:10.1002/ana.410410606 · Cited by 664 · see citing works
Distinct behavioural profiles in frontotemporal dementia and semantic dementia
Snowden, J., Bathgate, D., Varma, A., Blackshaw, A., Gibbons, Z. C., & Neary, D. (2001) · Journal of Neurology Neurosurgery & Psychiatry · doi:10.1136/jnnp.70.3.323 · Cited by 604 · see citing works
Bozeat, S. (2000) · Journal of Neurology, Neurosurgery & Psychiatry · doi:10.1136/jnnp.69.2.178 · Cited by 603 · see citing works
The heritability and genetics of frontotemporal lobar degeneration
Rohrer, J. D., Guerreiro, R., Vandrovcova, J., Uphill, J., Reiman, D., Beck, J., Isaacs, A. M., Authier, A., Ferrari, R., Fox, N. C., et al. (2009) · Neurology · doi:10.1212/wnl.0b013e3181bf997a · Cited by 536 · see citing works
Snowden, J. S., Rollinson, S., Thompson, J. C., Harris, J. M., Stopford, C. L., Richardson, A. M. T., Jones, M., Gerhard, A., Davidson, Y. S., Robinson, A., et al. (2012) · Brain · doi:10.1093/brain/awr355 · Cited by 523 · see citing works
Rayaprolu, S., Mullen, B., Baker, M., Lynch, T., Finger, E., Seeley, W. W., Hatanpaa, K. J., Lomen-Hoerth, C., Kertesz, A., Bigio, E. H., et al. (2013) · Molecular Neurodegeneration · doi:10.1186/1750-1326-8-19 · Cited by 404 · see citing works
Does corticobasal degeneration exist? A clinicopathological re-evaluation
Ling, H., O'Sullivan, S. S., Holton, J. L., Revesz, T., Massey, L. A., Williams, D. R., Paviour, D. C., & Lees, A. J. (2010) · Brain · doi:10.1093/brain/awq123 · Cited by 394 · see citing works
Neuropathology of variants of progressive supranuclear palsy
Dickson, D. W., Ahmed, Z., Algom, A. A., Tsuboi, Y., & Josephs, K. A. (2010) · Current Opinion in Neurology · doi:10.1097/wco.0b013e32833be924 · Cited by 386 · see citing works
Respondek, G., Stamelou, M., Kurz, C., Ferguson, L. W., Rajput, A. H., Chiu, W. Z., Swieten, J. C. V., Troakes, C., Sarraj, S. A., Gelpí, E., et al. (2014) · Movement Disorders · doi:10.1002/mds.26054 · Cited by 384 · see citing works
Finch, N. A., Baker, M., Crook, R., Swanson, K. R., Kuntz, K., Surtees, R., Bisceglio, G. D., Rovelet‐Lecrux, A., Boeve, B. F., Petersen, R. C., et al. (2009) · Brain · doi:10.1093/brain/awn352 · Cited by 382 · see citing works
Guerreiro, R. J., Lohmann, E., Brás, J. M., Gibbs, J. R., Rohrer, J. D., Gurunlian, N., Dursun, B., Bilgic, B., Hanagasi, H., Gurvit, H., et al. (2013) · JAMA Neurology · doi:10.1001/jamaneurol.2013.579 · Cited by 374 · see citing works
The role of FUS gene variants in neurodegenerative diseases
Deng, H., Gao, K., & Jankovic, J. J. (2014) · Nature Reviews Neurology · doi:10.1038/nrneurol.2014.78 · Cited by 357 · see citing works
Self-citationBer, I. L., Camuzat, A., Hannequin, D., Pasquier, F., Guedj, É., Rovelet‐Lecrux, A., Hahn‐Barma, V., van der Zee, J., Clot, F., Bakchine, S., et al. (2008) · Brain · doi:10.1093/brain/awn012 · Cited by 348 · see citing works
Boeve, 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
Lynch, T., Sano, M. C., Marder, K. S., Bell, K. L., Foster, N. L., Defending, R. F., Sima, A. A. F., Keohane, C., Nygaard, T. G., Fahn, S., et al. (1994) · Neurology · doi:10.1212/wnl.44.10.1878 · Cited by 287 · see citing works
Principles and Practice of Movement Disorders
(2011) · Elsevier eBooks · doi:10.1016/c2009-0-44357-5 · Cited by 276 · see citing works
Woolley, J. D., Gorno‐Tempini, M., Seeley, W. W., Rankin, K. P., Lee, S. S., Matthews, B. R., & Miller, B. L. (2007) · Neurology · doi:10.1212/01.wnl.0000277461.06713.23 · Cited by 254 · see citing works
Swieten, J. C. V., & Heutink, P. (2008) · The Lancet Neurology · doi:10.1016/s1474-4422(08)70194-7 · Cited by 234 · see citing works
Parkinsonism and impaired axonal transport in a mouse model of frontotemporal dementia
Ittner, L. M., Fath, T., Ke, Y. D., Bi, M., van Eersel, J., Li, K. M., Gunning, P. W., & Götz, J. (2008) · Proceedings of the National Academy of Sciences · doi:10.1073/pnas.0808084105 · Cited by 219 · see citing works
A study of the Lund‐Manchester research criteria for frontotemporal dementia
Miller, B. L., Ikonte, C., Pontón, M. O., Levy, M. L., Boone, K. W., Darby, A. L., Berman, N., Mena, I. G., & Cummings, J. L. (1997) · Neurology · doi:10.1212/wnl.48.4.937 · Cited by 214 · see citing works
(1998) · PubMed · Cited by 213 · see citing works
Frameshift and novel mutations in FUS in familial amyotrophic lateral sclerosis and ALS/dementia
Yan, J., Deng, H., Siddique, N. A., Fecto, F., Chen, W., Yang, Y., Liu, E., Donkervoort, S. C., Zheng, J. G., Shi, Y., et al. (2010) · Neurology · doi:10.1212/wnl.0b013e3181f07e0c · Cited by 208 · see citing works
<i>C9orf72</i> expansions are the most common genetic cause of Huntington disease phenocopies
Hensman Moss, D. J., Poulter, M., Beck, J., Hehir, J., Polke, J. M., Campbell, T., Adamson, G., Mudanohwo, E., McColgan, P., Haworth, A., et al. (2014) · Neurology · doi:10.1212/wnl.0000000000000061 · Cited by 203 · see citing works
Decline of cerebral glucose metabolism in frontotemporal dementia: a longitudinal 18F-FDG-PET-study
Diehl-Schmid, J., Grimmer, T., Drzezga, A., Bornschein, S., Riemenschneider, M., Förstl, H., Schwaiger, M., & Kurz, A. (2007) · Neurobiology of Aging · doi:10.1016/j.neurobiolaging.2005.11.002 · Cited by 199 · see citing works
TARDBP variation associated with frontotemporal dementia, supranuclear gaze palsy, and chorea
Kovács, G. G., Murrell, J. R., Horvath, S., Haraszti, L., Majtényi, K., Molnár, M. J., Budka, H., Ghetti, B. F., & Spina, S. (2009) · Movement Disorders · doi:10.1002/mds.22697 · Cited by 198 · see citing works
Diagnostic criteria for corticobasal syndrome: a comparative study
Mathew, R., Bak, T. H., & Hodges, J. R. (2011) · Journal of Neurology Neurosurgery & Psychiatry · doi:10.1136/jnnp-2011-300875 · Cited by 195 · see citing works
(2005) · PubMed · Cited by 191 · see citing works
Novel splicing mutation in the progranulin gene causing familial corticobasal syndrome
Masellis, M., Momeni, P., Meschino, W. S., Heffner, R. R., Elder, J., Sato, C., Liang, Y., George‐Hyslop, P. S., Hardy, J., Bilbao, J. M., et al. (2006) · Brain · doi:10.1093/brain/awl276 · Cited by 191 · see citing works
Yu, C.-E., Bird, T. D., Bekris, L. M., Montine, T. J., Leverenz, J. B., Steinbart, E., Galloway, N. M., Feldman, H., Woltjer, R., Miller, C. A., et al. (2010) · Archives of Neurology · doi:10.1001/archneurol.2009.328 · Cited by 190 · see citing works
Exome Sequencing Identifies FUS Mutations as a Cause of Essential Tremor
Merner, N. D., Girard, S., Catoire, H., Bourassa, C. V., Belzil, V., Rivière, J., Hince, P., Levert, A., Dionne‐Laporte, A., Spiegelman, D., et al. (2012) · The American Journal of Human Genetics · doi:10.1016/j.ajhg.2012.07.002 · Cited by 189 · see citing works
Incidence of early-onset dementias in Cambridgeshire, United Kingdom
Mercy, L., Hodges, J. R., Dawson, K., Barker, R., & Brayne, C. (2008) · Neurology · doi:10.1212/01.wnl.0000334277.16896.fa · Cited by 189 · see citing works
Khan, B. K., Yokoyama, J. S., Takada, L. T., Sha, S. J., Rutherford, N. J., Fong, J. C., Karydas, A. M., Wu, T., Ketelle, R. S., Baker, M. C., et al. (2012) · Journal of Neurology, Neurosurgery & Psychiatry · doi:10.1136/jnnp-2011-301883 · Cited by 185 · see citing works
Josephs, K. A., Ahmed, Z., Katsuse, O., Parisi, J. F., Boeve, B. F., Knopman, D. S., Petersen, R. C., Davies, P., Duara, R., Graff‐Radford, N. R., et al. (2007) · Journal of Neuropathology & Experimental Neurology · doi:10.1097/nen.0b013e31803020cf · Cited by 182 · see citing works
Prominent phenotypic variability associated with mutations in Progranulin
Kelley, B. J., Haidar, W. N., Boeve, B. F., Baker, M. C., Graff‐Radford, N. R., Krefft, T. A., Frank, A. R., Jack, C. R., Shiung, M. S., Knopman, D. S., et al. (2007) · Neurobiology of Aging · doi:10.1016/j.neurobiolaging.2007.08.022 · Cited by 181 · see citing works
Deciphering logopenic primary progressive aphasia: a clinical, imaging and biomarker investigation
Teichmann, M., Kas, A., Boutet, C., Sophie Ferrieux, A., Nogues, M., Samri, D., Rogan, C., Dormont, D., Dubois, B., & Migliaccio, R. (2013) · Brain · doi:10.1093/brain/awt266 · Cited by 180 · see citing works
Ludolph, A. C., Kassubek, J., Landwehrmeyer, G. B., Mandelkow, E., Mandelkow, E., Burn, D. J., Caparros-Lefebvre, D., Frey, K. A., de Yébenes, J. G., Gasser, T., et al. (2009) · European Journal of Neurology · doi:10.1111/j.1468-1331.2008.02513.x · Cited by 170 · 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
Cooper‐Knock, J., Shaw, P. J., & Kirby, J. (2014) · Acta Neuropathologica · doi:10.1007/s00401-014-1251-9 · Cited by 163 · see citing works
Clinical and neuropathologic variation in neuronal intermediate filament inclusion disease
Cairns, N. J., Grossman, M., Arnold, S. E., Burn, D. J., Jaros, E., Perry, R. H., Duyckaerts, C. J., Stankoff, B., Pillon, B., Skullerud, K., et al. (2004) · Neurology · doi:10.1212/01.wnl.0000139809.16817.dd · Cited by 160 · see citing works
Frequency of ubiquitin and FUS-positive, TDP-43-negative frontotemporal lobar degeneration
Seelaar, H., Klijnsma, K. Y., de Koning, I., van der Lugt, A., Chiu, W. Z., Azmani, A., Rozemüller, A. J. M., & Swieten, J. C. V. (2009) · Journal of Neurology · doi:10.1007/s00415-009-5404-z · Cited by 155 · see citing works
Nyatsanza, S., Shetty, T., Gregory, C., Lough, S., Dawson, K., & Hodges, J. R. (2003) · Journal of Neurology Neurosurgery & Psychiatry · doi:10.1136/jnnp.74.10.1398 · Cited by 152 · see citing works
Giraldo, M., Lopera, F., Siniard, A. L., Corneveaux, J. J., Schrauwen, I., Carvajal, J., Muñoz, C., Ramirez-Restrepo, M., Gaiteri, C., Myers, A. J., et al. (2013) · Neurobiology of Aging · doi:10.1016/j.neurobiolaging.2013.02.016 · Cited by 147 · see citing works
Bianchin, M., Capella, H., Chaves, D. L., Steindel, M., Grisard, E., Ganev, G. G., da Silva, J. P., Schaeffer, E., Poffo, M. A., Walz, R., et al. (2004) · Cellular and molecular neurobiology · doi:10.1023/b:cemn.0000012721.08168.ee · Cited by 147 · see citing works
Tetrabenazine for the treatment of chorea and other hyperkinetic movement disorders
Jankovic, J. J., & Clarence‐Smith, K. (2011) · Expert Review of Neurotherapeutics · doi:10.1586/ern.11.149 · Cited by 146 · see citing works
Self-citationLindquist, S., Duno, M., Batbayli, M., Puschmann, A., Braendgaard, H., Mardosiene, S., Svenstrup, K., Pinborg, L., Vestergaard, K., Hjermind, L., et al. (2013) · Clinical Genetics · doi:10.1111/j.1399-0004.2012.01903.x · Cited by 143 · see citing works
Repetitive and compulsive behavior in frontal lobe degenerations
Ames, D., Cummings, J. L., Wirshing, W. C., Quinn, B., & Mahler, M. E. (1994) · Journal of Neuropsychiatry · doi:10.1176/jnp.6.2.100 · Cited by 143 · see citing works
Frontotemporal Lobar Degeneration: Epidemiology, Pathology, Diagnosis and Management
Seltman, R. E., & Matthews, B. R. (2012) · CNS Drugs · doi:10.2165/11640070-000000000-00000 · Cited by 132 · see citing works
A novel deletion in progranulin gene is associated with FTDP-17 and CBS
Benussi, L., Binetti, G. G., Sina, E., Gigola, L., Bettecken, T., Meitinger, T., & Ghidoni, R. (2006) · Neurobiology of Aging · doi:10.1016/j.neurobiolaging.2006.10.028 · Cited by 126 · see citing works
Pickering-Brown, S. M., Richardson, A. M. T., Snowden, J. S., McDonagh, A. M., Burns, A. S., Braude, W., Baker, M., Liu, W. ‐., Yen, S. H., Hardy, J., et al. (2002) · Brain · doi:10.1093/brain/awf069 · Cited by 124 · see citing works
Stamelou, M., Quinn, N. P., & Bhatia, K. P. (2013) · Movement Disorders · doi:10.1002/mds.25509 · Cited by 124 · see citing works
Cairns, N. J., Zhukareva, V. A., Uryu, K., Zhang, B., Bigio, E. H., Mackenzie, I. R., Gearing, M., Duyckaerts, C. J., Yokoo, H., Nakazato, Y., et al. (2004) · American Journal Of Pathology · doi:10.1016/s0002-9440(10)63773-x · Cited by 123 · see citing works
Stereotypies: A critical appraisal and suggestion of a clinically useful definition
Edwards, M. J., Lang, A. E., & Bhatia, K. P. (2011) · Movement Disorders · doi:10.1002/mds.23994 · Cited by 123 · see citing works
Caudate atrophy on MRI is a characteristic feature of FTLD‐FUS
Josephs, K. A., Whitwell, J. L., Parisi, J. E., Petersen, R. C., Boeve, B. F., Jack, C. R., & Dickson, D. W. (2010) · European Journal of Neurology · doi:10.1111/j.1468-1331.2010.02975.x · Cited by 112 · see citing works
Chromosome 3 linked frontotemporal dementia (FTD-3)
Gydesen, S., Brown, J., Brun, A., Chakrabarti, L., Gade, A., Johannsen, P., Rossor, M., Thusgaard, T., Grove, A., Yancopoulou, D., et al. (2002) · Neurology · doi:10.1212/01.wnl.0000034763.54161.1f · Cited by 111 · see citing works
Investigation of C9orf72 in 4 Neurodegenerative Disorders
Xi, Z., Zinman, L. H., Grinberg, Y., Moreno, D., Sato, C., Bilbao, J. M., Ghani, M., Hernández, I., Ruiz, A., Boada, M., et al. (2012) · Archives of Neurology · doi:10.1001/archneurol.2012.2016 · Cited by 110 · see citing works
Striatal dopamine transporter and extrapyramidal symptoms in frontotemporal dementia
Rinne, J. O., Laine, M., Kaasinen, V., Norvasuo‐Heilä, M., Någren, K., & Helenius, H. Y. M. (2002) · Neurology · doi:10.1212/wnl.58.10.1489 · Cited by 109 · see citing works
Progranulin Leu271LeufsX10 is one of the most common FTLD and CBS associated mutations worldwide
Benussi, L., Ghidoni, R., Pegoiani, E., Moretti, D. V., Zanetti, O. O., & Binetti, G. G. (2008) · Neurobiology of Disease · doi:10.1016/j.nbd.2008.11.008 · Cited by 107 · see citing works
The tauopathy associated with mutation +3 in intron 10 of Tau: characterization of the MSTD family
Spina, S., Farlow, M. R., Unverzagt, F. W., Kareken, D. A., Murrell, J. R., Fraser, G. M., Epperson, F., Crowther, R. A., Spillantini, M. G., Goedert, M., et al. (2007) · Brain · doi:10.1093/brain/awm280 · Cited by 102 · see citing works
Frontotemporal Dementia Caused by CHMP2B Mutations
Isaacs, A. M., Johannsen, P., Holm, I. E., Nielsen, J. E., & Freja Consortium (2011) · Current Alzheimer Research · doi:10.2174/156720511795563764 · Cited by 99 · see citing works
Homozygous TREM2 mutation in a family with atypical frontotemporal dementia
Ber, I. L., de Septenville, A. D., Guerreiro, R., Bras, J., Camuzat, A., Caroppo, P., Lattante, S., Couarch, P., Kabashi, E., Bouya-Ahmed, K., et al. (2014) · Neurobiology of Aging · doi:10.1016/j.neurobiolaging.2014.04.010 · Cited by 98 · see citing works
The Stereotypy Rating Inventory for frontotemporal lobar degeneration
Shigenobu, K., Ikeda, M., Fukuhara, R., Maki, N., Hokoishi, K., Nebu, A., Yasuoka, T., Komori, K., & Tanabe, H. (2002) · Psychiatry Research · doi:10.1016/s0165-1781(02)00094-x · Cited by 98 · see citing works
Parkinsonian syndrome in familial frontotemporal dementia
Siuda, J., Fujioka, S., & Wszolek, Z. K. (2014) · Parkinsonism & Related Disorders · doi:10.1016/j.parkreldis.2014.06.004 · Cited by 96 · see citing works
Ikeda, M., Shigenobu, K., Fukuhara, R., Hokoishi, K., Maki, N., Nebu, A., Komori, K., & Tanabe, H. (2004) · Dementia and Geriatric Cognitive Disorders · doi:10.1159/000076343 · Cited by 96 · see citing works
Analyses of the MAPT, PGRN, and C9orf72 mutations in Japanese patients with FTLD, PSP, and CBS
Ogaki, K., Li, Y., Takanashi, M., Ishikawa, K., Kobayashi, T., Nonaka, T., Hasegawa, M., Kishi, M., Yoshino, H., Funayama, M., et al. (2012) · Parkinsonism & Related Disorders · doi:10.1016/j.parkreldis.2012.06.019 · Cited by 93 · see citing works
Langenhove, T. V., van der Zee, J., Gijselinck, I., Engelborghs, S., Vandenberghe, R. R., Vandenbulcke, M., Bleecker, J. D., Sieben, A., Versijpt, J. J., Ivanoiu, A., et al. (2013) · JAMA Neurology · doi:10.1001/2013.jamaneurol.181 · Cited by 92 · see citing works
Differentiation of frontotemporal dementia from dementia with Lewy bodies using FP-CIT SPECT
Morgan, S., Kemp, P. M., Booij, J., Costa, D. C., Padayachee, S., Lee, L., Barber, C., Carter, J., & Walker, Z. (2012) · Journal of Neurology Neurosurgery & Psychiatry · doi:10.1136/jnnp-2012-302577 · Cited by 91 · see citing works
Dystonia in corticobasal degeneration
Vanek, Z. F., & Jankovic, J. J. (2001) · Movement Disorders · doi:10.1002/mds.1038 · Cited by 90 · see citing works
Self-citationQuadri, M., Cossu, G., Saddi, V., Simons, E. J., Murgia, D., Melis, M., Ticca, A., Oostra, B. A., & Bonifati, V. (2011) · Neurogenetics · doi:10.1007/s10048-011-0288-3 · Cited by 88 · see citing works
Corticobasal Syndrome Associated With the A9D Progranulin Mutation
Spina, S., Murrell, J. R., Huey, E. D., Wassermann, E. M., Pietrini, P., Grafman, J. H., & Ghetti, B. F. (2007) · Journal of Neuropathology & Experimental Neurology · doi:10.1097/nen.0b013e3181567873 · Cited by 87 · see citing works
A mutation in the microtubule-associated protein tau in pallido-nigro-luysian degeneration
Yasuda, M., Kawamata, T., Komure, O., Kuno, S., D’Souza, I., Poorkaj, P., Kawai, J., Tanimukai, S., Yamamoto, Y., Hasegawa, H. H., et al. (1999) · Neurology · doi:10.1212/wnl.53.4.864 · Cited by 84 · see citing works
Novel mutation in MAPT exon 13 (p.N410H) causes corticobasal degeneration
Kouri, N., Carlomagno, Y., Baker, M., Liesinger, A. M., Caselli, R. J., Wszołek, Z. K., Petrucelli, L., Boeve, B. F., Parisi, J. E., Josephs, K. A., et al. (2013) · Acta Neuropathologica · doi:10.1007/s00401-013-1193-7 · Cited by 82 · see citing works
Heterogeneity within a large kindred with frontotemporal dementia: A novel progranulin mutation
Bruni, A. C., Momeni, P., Bernardi, L., Tomaino, C., Frangipane, F., Elder, J., Kawarai, T., Sato, C., Pradella, S., Wakutani, Y., et al. (2007) · Neurology · doi:10.1212/01.wnl.0000265220.64396.b4 · Cited by 77 · see citing works
Phenotypic variability in three families with valosin‐containing protein mutation
Spina, S., Laar, A. D. V., Murrell, J. R., Hamilton, R. L., Kofler, J., Epperson, F., Farlow, M. R., López, O. L., Quinlan, J. G., DeKosky, S. T., et al. (2012) · European Journal of Neurology · doi:10.1111/j.1468-1331.2012.03831.x · Cited by 76 · see citing works
C9ORF72 Intermediate Repeat Copies Are a Significant Risk Factor for Parkinson Disease
Nuytemans, K., Bademci, G., Kohli, M. M., Beecham, G. W., Wang, L., Young, J. I., Nahab, F. B., Martin, E. R., Gilbert, J. R., Benatar, M. G., et al. (2013) · Annals of Human Genetics · doi:10.1111/ahg.12033 · Cited by 74 · see citing works
Goldman, J. S., Quinzii, C. M., Dunning-Broadbent, J., Waters, C., Mitsumoto, H., Brannagan, T. H., Cosentino, S., Huey, E. D., Nagy, P. L., & Kuo, S. (2014) · JAMA Neurology · doi:10.1001/jamaneurol.2013.5762 · Cited by 73 · see citing works
Patterns of Striatal Degeneration in Frontotemporal Dementia
Halabi, C., Halabi, A., Dean, D. L., Wang, P., Boxer, A. L., Trojanowski, J. Q., DeArmond, S. J., Miller, B. L., Kramer, J. H., & Seeley, W. W. (2012) · Alzheimer Disease & Associated Disorders · doi:10.1097/wad.0b013e31824a7df4 · Cited by 71 · see citing works
Dystonia in corticobasal degeneration: A review of the literature on 404 pathologically proven cases
Stamelou, M., Cánovas, A. A., & Bhatia, K. P. (2012) · Movement Disorders · doi:10.1002/mds.24992 · Cited by 68 · see citing works
Myoclonus and neurodegenerative disease—what's in a name?
Caviness, J. N. (2003) · Parkinsonism & Related Disorders · doi:10.1016/s1353-8020(02)00054-8 · Cited by 66 · see citing works
PRKAR1B mutation associated with a new neurodegenerative disorder with unique pathology
Wong, T. H., Chiu, W. Z., Breedveld, G. J., Li, K. W., Verkerk, A. J. M. H., Hondius, D., Hukema, R. K., Seelaar, H., Frick, P., Severijnen, L.-A. W. F. M., et al. (2014) · Brain · doi:10.1093/brain/awu067 · Cited by 65 · see citing works
C9ORF72 expansions, parkinsonism, and Parkinson disease
Cooper‐Knock, J., Frolov, A., Highley, J. R., Charlesworth, G., Kirby, J., Milano, A., Hartley, J. A., Ince, P. G., McDermott, C. J., Lashley, T., et al. (2013) · Neurology · doi:10.1212/wnl.0b013e3182a2cc38 · Cited by 64 · see citing works
Subcortical and deep cortical atrophy in Frontotemporal Lobar Degeneration
Garibotto, V., Borroni, B., Agosti, C., Premi, E., Alberici, A., Eickhoff, S. B., Brambati, S. M., Bellelli, G., Gasparotti, R., Perani, D., et al. (2009) · Neurobiology of Aging · doi:10.1016/j.neurobiolaging.2009.05.004 · Cited by 63 · see citing works
TARDBP mutations in Parkinson's disease
Rayaprolu, S., Fujioka, S., Traynor, S. M., Soto‐Ortolaza, A. I., Petrucelli, L., Dickson, D. W., Rademakers, R., Boylan, K., Graff‐Radford, N. R., Uitti, R. J., et al. (2012) · Parkinsonism & Related Disorders · doi:10.1016/j.parkreldis.2012.11.003 · Cited by 63 · see citing works
Mapping neuroinflammation in frontotemporal dementia with molecular PET imaging
Zhang, J. (2015) · Journal of Neuroinflammation · doi:10.1186/s12974-015-0236-5 · Cited by 62 · see citing works
Mutational analysis of TARDBP in neurodegenerative diseases
Ticozzi, N., LeClerc, A. L., van Blitterswijk, M., Keagle, P. J., McKenna-Yasek, D. M., Sapp, P. C., Silani, V., Wills, A.-M. A., Brown, R. H., & Landers, J. E. (2009) · Neurobiology of Aging · doi:10.1016/j.neurobiolaging.2009.11.018 · Cited by 62 · see citing works
Frontotemporal dementia and parkinsonism with the P301S tau gene mutation in a Jewish family
Lossos, A., Reches, A., Gal, A., Newman, J. P., Soffer, D., Gomori, J. M., Boher, M., Ekstein, D., Biran, I., Meiner, Z., et al. (2003) · Journal of Neurology · doi:10.1007/s00415-003-1074-4 · Cited by 61 · see citing works
F-Box Only Protein 7 Gene in Parkinsonian-Pyramidal Disease
Deng, H., Liang, H. W., & Jankovic, J. J. (2013) · JAMA Neurology · doi:10.1001/jamaneurol.2013.572 · Cited by 60 · see citing works
Self-citationTwo brothers with frontotemporal dementia and parkinsonism with an N279K mutation of the tau gene
Arima, K., Kowalska, A., Hasegawa, M., Mukoyama, M., Watanabe, R., Kawai, M., Takahashi, K., Iwatsubo, T., Tabira, T., & Sunohara, N. (2000) · Neurology · doi:10.1212/wnl.54.9.1787 · Cited by 59 · see citing works
Caudate Nucleus Volumes in Frontotemporal Lobar Degeneration: Differential Atrophy in Subtypes
Looi, J. C., Lindberg, O. E., Zandbelt, B. B., Östberg, P., Andersen, C., Botes, L., Svensson, L. A., & Wahlund, L. (2008) · American Journal of Neuroradiology · doi:10.3174/ajnr.a1168 · Cited by 58 · see citing works
Two brothers with frontotemporal dementia and parkinsonism with an N279K mutation of the tau gene
Wszołek, Z. K., Tsuboi, Y., Uitti, R. J., & Reed, L. A. (2000) · Neurology · doi:10.1212/wnl.55.12.1939 · Cited by 57 · see citing works
Borghero, G., Floris, G., Cannas, A., Marrosu, M. G., Murru, M. R., Costantino, E., Parish, L. D., Pugliatti, M., Ticca, A., Traynor, B. J., et al. (2011) · Neurobiology of Aging · doi:10.1016/j.neurobiolaging.2011.06.009 · Cited by 55 · see citing works
Floris, G., Borghero, G., Cannas, A., Stefano, F. D., Costantino, E., Murru, M. R., Brunetti, M., Restagno, G., Traynor, B. J., Marrosu, M. G., et al. (2012) · Journal of Neurology · doi:10.1007/s00415-012-6444-3 · Cited by 54 · see citing works
Rohrer, J. D., Paviour, D. C., Vandrovcová, J., Hodges, J. R., de Silva, R., & Rossor, M. N. (2010) · Neurodegenerative Diseases · doi:10.1159/000319454 · Cited by 54 · see citing works
Clinicopathologic correlation in PGRN mutations
Davion, S., Johnson, N., Weıntraub, S., Mesulam, M. M., Engberg, A. K., Mishra, M., Baker, M., Adamson, J., Hutton, M. L., Rademakers, R., et al. (2007) · Neurology · doi:10.1212/01.wnl.0000267701.58488.69 · Cited by 54 · 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
The G389R mutation in the MAPT gene presenting as sporadic corticobasal syndrome
Rossi, G., Marelli, C., Farina, L., Laurá, M., Basile, A. M., Ciano, C., Tagliavini, F., & Pareyson, D. (2008) · Movement Disorders · doi:10.1002/mds.21970 · Cited by 50 · see citing works
Psychosis,C9ORF72and dementia with Lewy bodies: Table 1
Snowden, J. S., Rollinson, S., Lafon, C., Harris, J., Thompson, J. C., Richardson, A. M. T., Jones, M. S., Gerhard, A., Neary, D., Mann, D. M. A., et al. (2012) · Journal of Neurology Neurosurgery & Psychiatry · doi:10.1136/jnnp-2012-303032 · Cited by 48 · see citing works
Anatomic correlates of stereotypies in frontotemporal lobar degeneration
Josephs, K. A., Whitwell, J. L., & Jack, C. R. (2007) · Neurobiology of Aging · doi:10.1016/j.neurobiolaging.2007.04.027 · Cited by 47 · see citing works
Imaging Frontotemporal Lobar Degeneration
Diehl‐Schmid, J., Onur, O. A., Kuhn, J., GRUPPE, T. L., & Drzezga, A. E. (2014) · Current Neurology and Neuroscience Reports · doi:10.1007/s11910-014-0489-x · Cited by 47 · see citing works
Looi, J. C., Svensson, L., Lindberg, O. E., Zandbelt, B. B., Östberg, P., Örndahl, E., & Wahlund, L. (2009) · American Journal of Neuroradiology · doi:10.3174/ajnr.a1640 · Cited by 47 · see citing works
Extrapyramidal symptoms in frontotemporal dementia: prevalence and clinical correlations
Padovani, A., Agosti, C., Premi, E., Bellelli, G., & Borroni, B. (2007) · Neuroscience Letters · doi:10.1016/j.neulet.2007.05.049 · Cited by 46 · see citing works
Mosca, L., Lunetta, C., Tarlarini, C., Avemaria, F., Maestri, E., Melazzini, M. G., Corbo, M., & Penco, S. (2012) · Neurobiology of Aging · doi:10.1016/j.neurobiolaging.2012.01.108 · Cited by 46 · see citing works
Genetics of frontotemporal lobar degeneration: An up-date and diagnosis algorithm
Ber, I. L. (2013) · Revue Neurologique · doi:10.1016/j.neurol.2013.07.014 · Cited by 44 · 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
A novel tau mutation, p.K317N, causes globular glial tauopathy
Tacik, P. M., Deture, M. A., Lin, W.-L., Sánchez-Contreras, M., Wojtas, A., Hinkle, K. M., Fujioka, S., Baker, M., Walton, R. L., Carlomagno, Y., et al. (2015) · Acta Neuropathologica · doi:10.1007/s00401-015-1425-0 · Cited by 43 · see citing works
Parkinson disease is not associated with C9ORF72 repeat expansions
Harms, M. B., Neumann, D. A., Benítez, B. A., Cooper, B., Carrell, D., Racette, B. A., Perlmutter, J. S., Goate, A., & Cruchaga, C. (2012) · Neurobiology of Aging · doi:10.1016/j.neurobiolaging.2012.10.001 · Cited by 43 · see citing works
Extrapyramidal signs, primitive reflexes and incontinence in fronto‐temporal dementia
Diehl‐Schmid, J., Schūlte‐Overberg, J., Hartmann, J., Förstl, H., Kurz, A., & Häussermann, P. (2007) · European Journal of Neurology · doi:10.1111/j.1468-1331.2007.01773.x · Cited by 39 · see citing works
Mutational analysis of the VCP gene in Parkinson's disease
Majounie, E., Traynor, B. J., Chiò, A., Restagno, G., Mandrioli, J., Benatar, M. G., Taylor, J. P., & Singleton, A. (2011) · Neurobiology of Aging · doi:10.1016/j.neurobiolaging.2011.07.011 · Cited by 39 · see citing works
Different clinical and neuropathologic phenotypes of familial ALS with A315E TARDBP mutation
Fujita, Y., Ikeda, M., Yanagisawa, T., Senoo, Y., & Okamoto, K. (2011) · Neurology · doi:10.1212/wnl.0b013e318232ab87 · Cited by 35 · see citing works
Baba, Y., Baker, M., Ber, I. L., Brice, A., Maeck, L., Kohlhase, J., Yasuda, M., Stoppe, G., Bugiani, O., Sperfeld, A.-D., et al. (2007) · Journal of Neural Transmission · doi:10.1007/s00702-007-0632-9 · Cited by 34 · see citing works
Stereotypic behaviors in degenerative dementias
Prioni, S., Fetoni, V., Barocco, F., Redaelli, V., Falcone, C., Soliveri, P., Tagliavini, F., Scaglioni, A., Caffarra, P., Concari, L., et al. (2012) · Journal of Neurology · doi:10.1007/s00415-012-6528-0 · Cited by 33 · 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
Perry, D., & Miller, B. (2013) · Seminars in neurology · doi:10.1055/s-0033-1359316 · Cited by 32 · see citing works
The Spectrum of Recurrent Thoughts and Behaviors in Frontotemporal Dementia
Mendez, M. F., & Shapira, J. S. (2008) · CNS Spectrums · doi:10.1017/s1092852900028443 · Cited by 32 · see citing works
The tau S305S mutation causes frontotemporal dementia with parkinsonism
Skoglund, L., Viitanen, M. H., Kalimo, H., Lannfelt, L., Jönhagen, M. E., Ingelsson, M., Glaser, A., & Herva, R. (2008) · European Journal of Neurology · doi:10.1111/j.1468-1331.2007.02017.x · Cited by 31 · see citing works
A Novel Tau Mutation in Exon 12, p.Q336H, Causes Hereditary Pick Disease
Tacik, P. M., Deture, M. A., Hinkle, K. M., Lin, W.-L., Sánchez-Contreras, M., Carlomagno, Y., Pedraza, O., Rademakers, R., Ross, O. A., Wszołek, Z. K., et al. (2015) · Journal of Neuropathology & Experimental Neurology · doi:10.1097/nen.0000000000000248 · Cited by 31 · see citing works
Sedaghat, F., Gotzamani-Psarrakou, A., Dedousi, E., Arnaoutoglou, M., Psarrakos, K., Baloyannis, I., Dimitriadis, A. S., & Baloyannis, S. J. (2007) · Neurodegenerative Diseases · doi:10.1159/000105159 · Cited by 30 · see citing works
Imaging biomarkers in tauopathies
Dani, M., Edison, P., & Brooks, D. J. (2015) · Parkinsonism & Related Disorders · doi:10.1016/j.parkreldis.2015.08.011 · Cited by 29 · see citing works
Clinical and Pathological Heterogeneity of Neuronal Intermediate Filament Inclusion Disease
Molina‐Porcel, L., Lladó, A., Rey, M. J., Molinuevo, J. L., Martinez‐Lage, M., Esteve, F. X., Ferrer, I., TOLOSA, E. S., & Blesa, R. (2008) · Archives of Neurology · doi:10.1001/archneurol.2007.37 · Cited by 29 · see citing works
Rusina, R., Kovács, G. G., Fiala, J., Hort, J., Ridzoň, P., Holmerová, I., Ströbel, T., & Matěj, R. (2011) · BMC Neurology · doi:10.1186/1471-2377-11-50 · Cited by 28 · see citing works
Pal, P. K., Wszołek, Z. K., Kishore, A., de la Fuente‐Fernández, R., Sossi, V., Uitti, R. J., Dobko, T., & Stoessl, A. J. (2001) · Parkinsonism & Related Disorders · doi:10.1016/s1353-8020(00)00026-2 · Cited by 27 · see citing works
The clinical spectrum of stereotypies in frontotemporal lobar degeneration
Mateen, F. J., & Josephs, K. A. (2009) · Movement Disorders · doi:10.1002/mds.22555 · Cited by 26 · see citing works
Juvenile Frontotemporal Dementia with Parkinsonism Associated with Tau Mutation G389R
Chaunu, M., Deramecourt, V., Buée‐Scherrer, V., Ber, I. L., Brice, A., Ehrlé, N., Hachimi, K. H. E., Pluot, M., Maurage, C., Bakchine, S., et al. (2013) · Journal of Alzheimer s Disease · doi:10.3233/jad-130413 · Cited by 26 · see citing works
Progranulin gene mutation with an unusual clinical and neuropathologic presentation
Wider, C. W., Uitti, R. J., Wszołek, Z. K., Fang, J. Y., Josephs, K. A., Baker, M., Rademakers, R., Hutton, M. L., & Dickson, D. W. (2008) · Movement Disorders · doi:10.1002/mds.22065 · Cited by 26 · see citing works
Investigation of C9orf72 repeat expansions in Parkinson's disease
Daoud, H., Noreau, A., Rochefort, D. L., Paquin-Lanthier, G., Gauthier, M. T., Provencher, P., Pourcher, E., Dupré, N., Chouinard, S., Jodoin, N., et al. (2012) · Neurobiology of Aging · doi:10.1016/j.neurobiolaging.2012.11.025 · Cited by 25 · see citing works
Yu, C. E., Bird, T. D., Bekris, L. M., Montine, T. J., Leverenz, J. B., Steinbart, E. J., Galloway, N. M., Feldman, H., Woltjer, R., Miller, C. A., et al. (2010) · Zurich Open Repository and Archive (University of Zurich) · doi:10.5167/uzh-44369 · Cited by 25 · see citing works
Dombroski, B. A., Galasko, D. R., Mata, I. F., Zabetian, C. P., Craig, U.-K., Garruto, R. M., Oyanagi, K., & Schellenberg, G. D. (2013) · JAMA Neurology · doi:10.1001/jamaneurol.2013.1817 · Cited by 24 · see citing works
Cerebrospinal Fluid Biomarkers in Familial Forms of Alzheimer's Disease and Frontotemporal Dementia
Rostgaard, N., Waldemar, G., Nielsen, J. E., & Simonsen, A. H. (2015) · Dementia and Geriatric Cognitive Disorders · doi:10.1159/000381828 · Cited by 22 · see citing works
A large Calabrian kindred segregating frontotemporal dementia
Curcio, S. A. M., Kawarai, T., Paterson, A. D., Maletta, R., Puccio, G., Perri, M., Natale, M. D., Palermo, S., Foncin, J. F., George‐Hyslop, P. S., et al. (2002) · Journal of Neurology · doi:10.1007/s00415-002-0759-4 · Cited by 22 · see citing works
Tetrabenazine Treatment for Stereotypies and Tics Associated With Dementia
Ondo, W. G. (2012) · Journal of Neuropsychiatry · doi:10.1176/appi.neuropsych.11030077 · Cited by 22 · see citing works
Carecchio, M., Galimberti, D., Fenoglio, C., Serpente, M., Scarpini, E. A., Comi, C., Terazzi, E., & Cantello, R. M. (2013) · Journal of Alzheimer s Disease · doi:10.3233/jad-131151 · Cited by 19 · see citing works
Clinical Aspects of Familial Forms of Frontotemporal Dementia Associated with Parkinsonism
Fujioka, S., & Wszołek, Z. K. (2011) · Journal of Molecular Neuroscience · doi:10.1007/s12031-011-9568-5 · Cited by 19 · see citing works
Bermingham, N., Cowie, T., Paine, M., Storey, E., & McLean, C. (2007) · Neuropathology and Applied Neurobiology · doi:10.1111/j.1365-2990.2007.00918.x · Cited by 17 · see citing works
Espay, A. J., Spina, S., Houghton, D. J., Murrell, J. R., de Courten‐Myers, G. M., Ghetti, B. F., & Litvan, I. (2010) · Journal of Neurology Neurosurgery & Psychiatry · doi:10.1136/jnnp.2009.201608 · Cited by 17 · see citing works
Werber, E. A., Klein, C., Grünfeld, J., & Rabey, J. M. (2003) · Movement Disorders · doi:10.1002/mds.10401 · Cited by 16 · see citing works
No TARDBP Mutations in a French Canadian Population of Patients With Parkinson Disease
Kabashi, E., Daoud, H., Rivière, J., Valdamanis, P. N., Bourgouin, P., Provencher, P., Pourcher, E., Dion, P. A., Dupré, N., & Rouleau, G. A. (2009) · Archives of Neurology · doi:10.1001/archneurol.2008.568 · Cited by 15 · see citing works
Behavioral variant of frontotemporal dementia mimicking Huntington's disease
Nielsen, T. R., Bruhn, P. J., Nielsen, J. E., & Hjermind, L. E. (2010) · International Psychogeriatrics · doi:10.1017/s1041610210000098 · Cited by 15 · see citing works
Exome sequencing in familial corticobasal degeneration
Fekete, R., Bainbridge, M. N., Baizabal‐Carvallo, J. F., Rivera, A. L., Miller, B. B., Du, P., Kholodovych, V. V., Powell, S. Z.-E., & Ondo, W. G. (2013) · Parkinsonism & Related Disorders · doi:10.1016/j.parkreldis.2013.06.016 · Cited by 14 · see citing works
Self-citationKobayashi, K., Hayashi, M., Fukutani, Y., Miyazu, K., Shiozawa, M., Muramori, F., Aoki, T., & Koshino, Y. (1999) · PubMed · Cited by 12 · see citing works
The impact of rare variants in FUS in essential tremor
Hopfner, F., Stévanin, G., Mueller, S. H., Mundwiller, E., Bungeroth, M., Dürr, A., Pendziwiat, M., Anheim, M., Schneider, S. A., Tittmann, L., et al. (2015) · Movement Disorders · doi:10.1002/mds.26145 · Cited by 11 · see citing works
C9ORF72in Dementia with Lewy bodies
Robinson, A., Davidson, Y. S., Snowden, J. S., & Mann, D. M. A. (2014) · Journal of Neurology Neurosurgery & Psychiatry · doi:10.1136/jnnp-2014-307622 · Cited by 11 · see citing works
Plasma progranulin levels in cortical dementia phenotypes with asymmetric perisylvian atrophy
Gómez‐Tortosa, E., Guerrero, R., Gil-Neciga, E., Franco, E., del Ser, T., Jiménez‐Escrig, A., Pérez‐Pérez, J., & Sainz, M. J. (2013) · European Journal of Neurology · doi:10.1111/ene.12211 · Cited by 8 · see citing works
Generalized myoclonus as a prominent symptom in a patient with FTLD-TDP
Pail, M., Matěj, R., Husárová, I., & Rektorová, I. (2013) · Journal of Neurology · doi:10.1007/s00415-013-6942-y · Cited by 3 · see citing works
Sperfeld (1999) · Pure Amsterdam UMC · doi:10.1002/1531-8249(199911)46:5 · Cited by 2 · see citing works
Refining Frontotemporal Dementia With Parkinsonism Linked to Chromosome 17
Boeve, B. F., & Hutton, M. (2008) · Archives of Neurology · doi:10.1001/archneur.65.4.460
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New insights into the genetic etiology of Alzheimer’s disease and related dementias
Bellenguez, C., Küçükali, F., Jansen, I. E., Kleineidam, L., Moreno-Grau, S., Amin, N., Naj, A. C., Campos-Martin, R., Grenier-Boley, B., Andrade, V., et al. (2022) · Nature Genetics · doi:10.1038/s41588-022-01024-z · Cited by 2,498 · see citing works
Balestrino, R., & Schapira, A. H. V. (2020) · European Journal of Neurology · doi:10.1111/ene.14108 · Cited by 1,508 · see citing works
TREM2 in Neurodegenerative Diseases
Jay, T. R., von Saucken, V. E., & Landreth, G. E. (2017) · Molecular Neurodegeneration · doi:10.1186/s13024-017-0197-5 · Cited by 427 · see citing works
Neurotransmitter deficits from frontotemporal lobar degeneration
Murley, A. G., & Rowe, J. B. (2017) · Brain · doi:10.1093/brain/awx327 · Cited by 199 · see citing works
Wallings, R. L., Humble, S. W., Ward, M. E., & Wade‐Martins, R. (2019) · Trends in Neurosciences · doi:10.1016/j.tins.2019.10.002 · Cited by 143 · see citing works
Sphingolipids in the Pathogenesis of Parkinson’s Disease and Parkinsonism
Lin, G., Wang, L., Marcogliese, P. C., & Bellen, H. J. (2018) · Trends in Endocrinology and Metabolism · doi:10.1016/j.tem.2018.11.003 · Cited by 127 · see citing works
ALS/FTLD: experimental models and reality
Tan, R. H., Ke, Y. D., Ittner, L. M., & Halliday, G. M. (2017) · Acta Neuropathologica · doi:10.1007/s00401-016-1666-6 · Cited by 113 · see citing works
Benussi, A., Ashton, N. J., Karikari, T. K., Gazzina, S., Premi, E., Benussi, L., Ghidoni, R., Rodriguez, J. L., Emeršič, A., Binetti, G., et al. (2020) · Journal of Alzheimer’s Disease · doi:10.3233/jad-200608 · Cited by 113 · see citing works
What we know about TMEM106B in neurodegeneration
Nicholson, A. M., & Rademakers, R. (2016) · Acta Neuropathologica · doi:10.1007/s00401-016-1610-9 · Cited by 107 · see citing works
Garcia Morato, J., Hans, F., von Zweydorf, F., Feederle, R., Elsässer, S. J., Skodras, A. A., Gloeckner, C. J., Buratti, E., Neumann, M., & Kahle, P. J. (2022) · Nature Communications · doi:10.1038/s41467-022-28822-7 · Cited by 94 · see citing works
Loss of TMEM106B and PGRN leads to severe lysosomal abnormalities and neurodegeneration in mice
Feng, T., Mai, S., Roscoe, J. M., Sheng, R. R., Ullah, M., Zhang, J., Katz, I. I., Yu, H., Xiong, W., & Hu, F. (2020) · The EMBO Reports · doi:10.15252/embr.202050219 · Cited by 94 · see citing works
Del Prete, D., Rice, R. C., Rajadhyaksha, A. M., & D'Adamio, L. (2016) · Journal of Biological Chemistry · doi:10.1074/jbc.m116.733626 · Cited by 86 · see citing works
Tau and MAPT genetics in tauopathies and synucleinopathies
Léveillé, E., Ross, O. A., & Gan‐Or, Z. (2021) · Parkinsonism & Related Disorders · doi:10.1016/j.parkreldis.2021.09.008 · Cited by 83 · see citing works
Opening up the DNA methylome of dementia
Delgado‐Morales, R., & Esteller, M. (2017) · Molecular Psychiatry · doi:10.1038/mp.2016.242 · Cited by 74 · see citing works
ALS and FTD: an epigenetic perspective
Belzil, V., Katzman, R. B., & Petrucelli, L. (2016) · Acta Neuropathologica · doi:10.1007/s00401-016-1587-4 · Cited by 69 · 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
Lebouvier, T., Pasquier, F., & Buée, L. (2017) · Current Opinion in Neurology · doi:10.1097/wco.0000000000000502 · Cited by 68 · see citing works
Naskar, A., Nayak, A., Salaikumaran, M. R., Vishal, S. S., & Gopal, P. P. (2023) · Frontiers in Molecular Neuroscience · doi:10.3389/fnmol.2023.1242925 · Cited by 62 · see citing works
Tics and stereotypies: A comparative clinical review
Martino, D., & Hedderly, T. J. (2019) · Parkinsonism & Related Disorders · doi:10.1016/j.parkreldis.2019.02.005 · Cited by 66 · see citing works
Conceptual framework for the definition of preclinical and prodromal frontotemporal dementia
Benussi, A., Alberici, A., Samra, K., Russell, L. L., Greaves, C. V., Bocchetta, M., Ducharme, S., Finger, E. C., Fumagalli, G., Galimberti, D., et al. (2021) · Alzheimer s & Dementia · doi:10.1002/alz.12485 · Cited by 59 · see citing works
Chu, S., Xie, X., Payan, C., & Stochaj, U. (2023) · Molecular Neurodegeneration · doi:10.1186/s13024-023-00639-y · Cited by 58 · see citing works
Benatar, 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
Corticobasal syndrome: A diagnostic conundrum
Parmera, J. B., Rodriguez, R. D., Studart‐Neto, A., Nitríni, R., & Brucki, S. M. D. (2016) · Dementia & Neuropsychologia · doi:10.1590/s1980-5764-2016dn1004003 · Cited by 57 · see citing works
The continuum between neurodegeneration, brain plasticity, and movement: a critical appraisal
Schirinzi, T., Canevelli, M., Suppa, A., Bologna, M., & Marsili, L. (2020) · Reviews in the Neurosciences · doi:10.1515/revneuro-2020-0011 · Cited by 48 · see citing works
Tweaking Progranulin Expression: Therapeutic Avenues and Opportunities
Terryn, J., Verfaillie, C. M., & Damme, P. V. (2021) · Frontiers in Molecular Neuroscience · doi:10.3389/fnmol.2021.713031 · Cited by 47 · 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
Yabe, I., Yaguchi, H., Kato, Y., Miki, Y., Takahashi, H., Tanikawa, S., Shirai, S., Takahashi, I., Kimura, M., Hama, Y., et al. (2018) · Scientific Reports · doi:10.1038/s41598-018-19198-0 · Cited by 43 · see citing works
Overlapping genetic architecture between Parkinson disease and melanoma
Dube, U., Ibáñez, L., Budde, J., Benítez, B. A., Davis, A. A., Harari, O., Iles, M. M., Law, M. H., Brown, K. M., & Cruchaga, C. (2019) · Acta Neuropathologica · doi:10.1007/s00401-019-02110-z · Cited by 40 · see citing works
Tauopathy and Movement Disorders—Unveiling the Chameleons and Mimics
Ganguly, J., & Jog, M. (2020) · Frontiers in Neurology · doi:10.3389/fneur.2020.599384 · Cited by 38 · see citing works
Koon, A. C., & Chan, H. Y. E. (2017) · Frontiers in Cellular Neuroscience · doi:10.3389/fncel.2017.00070 · Cited by 36 · 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
VCP Machinery Mediates Autophagic Degradation of Empty Argonaute
Kobayashi, H., Shoji, K., Kiyokawa, K., Negishi, L., & Tomari, Y. (2019) · Cell Reports · doi:10.1016/j.celrep.2019.07.003 · Cited by 31 · see citing works
The hidden Niemann-Pick type C patient: clinical niches for a rare inherited metabolic disease
Hendriksz, C. J., Anheim, M., Bauer, P., Bonnot, O., Chakrapani, A., Corvol, J., de Koning, T. J., Degtyareva, А. V., Dionisi‐Vici, C., Doss, S., et al. (2017) · Current Medical Research and Opinion · doi:10.1080/03007995.2017.1294054 · Cited by 30 · see citing works
Yoo, H. S., Chung, S. J., Kim, S.-J., Oh, J. S., Kim, J. S., Ye, B. S., Sohn, Y. H., & Lee, P. H. (2018) · European Journal of Nuclear Medicine and Molecular Imaging · doi:10.1007/s00259-018-4019-y · Cited by 30 · see citing works
Progressive Supranuclear Palsy, Corticobasal Degeneration, and Multiple System Atrophy
Greene, P. E. (2019) · CONTINUUM Lifelong Learning in Neurology · doi:10.1212/con.0000000000000751 · Cited by 30 · see citing works
Biomedical Implications of Autophagy in Macromolecule Storage Disorders
Palhegyi, A. M., Seranova, E., Dimova, S., Hoque, S., & Sarkar, S. (2019) · Frontiers in Cell and Developmental Biology · doi:10.3389/fcell.2019.00179 · Cited by 29 · see citing works
Novel TUBA4A Variant Associated With Familial Frontotemporal Dementia
Mol, M. O., Wong, T. H., Melhem, S., Basu, S., Viscusi, R., Galjart, N., Rozemüller, A. J. M., Fallini, C., Landers, J. E., Kaat, L. D., et al. (2021) · Neurology Genetics · doi:10.1212/nxg.0000000000000596 · Cited by 28 · see citing works
Unravelling Genetic Factors Underlying Corticobasal Syndrome: A Systematic Review
Arienti, F., Lazzeri, G., Vizziello, M., Monfrini, E., Bresolin, N., Saetti, M. C., Picillo, M., Franco, G., & Fonzo, A. D. (2021) · Cells · doi:10.3390/cells10010171 · Cited by 27 · see citing works
Coexisting Lewy body disease and clinical parkinsonism in frontotemporal lobar degeneration
Forrest, S. L., Crockford, D. R., Sizemova, A., McCann, H., Shepherd, C. E., McGeachie, A. B., Affleck, A. J., Carew‐Jones, F., Bartley, L., Kwok, J. B., et al. (2019) · Neurology · doi:10.1212/wnl.0000000000007530 · Cited by 27 · see citing works
Pleiotropic Effects of Variants in Dementia Genes in Parkinson Disease
Ibáñez, L., Dube, U., Davis, A. A., Fernández, M. V., Budde, J., Cooper, B., Díez-Fairén, M., Ortega‐Cubero, S., Pástor, P., Perlmutter, J. S., et al. (2018) · Frontiers in Neuroscience · doi:10.3389/fnins.2018.00230 · Cited by 26 · see citing works
Clinical characteristics of parkinsonism in frontotemporal dementia according to subtypes
Park, H. K., Park, K. H., Yoon, B., Lee, J.-H., Choi, S. H., Joung, J. H., Yoon, S. J., Kim, B. C., Kim, S. H., Kim, E.-J., et al. (2017) · Journal of the Neurological Sciences · doi:10.1016/j.jns.2016.11.033 · Cited by 24 · see citing works
Koros, C., Stefanis, L., & Scarmeas, N. (2021) · Journal of the Neurological Sciences · doi:10.1016/j.jns.2021.120015 · Cited by 23 · see citing works
Isolated and combined genetic tremor syndromes: a critical appraisal based on the 2018 MDS criteria
Magrinelli, F., Latorre, A., Balint, B., Mackenzie, M., Mulroy, E., Stamelou, M., Tinazzi, M., & Bhatia, K. P. (2020) · Parkinsonism & Related Disorders · doi:10.1016/j.parkreldis.2020.04.010 · Cited by 23 · see citing works
Plasma Neurofilament Light Chain and Clinical Diagnosis in Frontotemporal Dementia Syndromes
Ooi, S., Patel, S. K., Eratne, D., Kyndt, C., Reidy, N., Lewis, C. C., Lee, S. C. M., Darby, D., & Brodtmann, A. G. (2022) · Journal of Alzheimer s Disease · doi:10.3233/jad-220272 · Cited by 22 · see citing works
Schreiber, S., Dębska–Vielhaber, G., Abdulla, S., Machts, J., Schreiber, F., Kropf, S., Körtvélyessy, P., Körner, S., Kollewe, K., Petri, S., et al. (2017) · Muscle & Nerve · doi:10.1002/mus.25682 · Cited by 22 · see citing works
Rare tremors and tremors occurring in other neurological disorders
Erro, R., & Reich, S. G. (2022) · Journal of the Neurological Sciences · doi:10.1016/j.jns.2022.120200 · Cited by 21 · see citing works
Schievink, W. I., Maya, M. M., Barnard, Z. R., Taché, R. B., Prasad, R. S., Wadhwa, V. S., Moser, F. G., & Nuno, M. A. (2022) · Alzheimer s & Dementia Translational Research & Clinical Interventions · doi:10.1002/trc2.12367 · Cited by 20 · see citing works
Isolated parkinsonism is an atypical presentation of GRN and C9orf72 gene mutations
Carneiro, F., Saracino, D., Huin, V., Clot, F., Delorme, C., Méneret, A., Thobois, S., Cormier‐Dequaire, F., Corvol, J., Lenglet, T., et al. (2020) · Parkinsonism & Related Disorders · doi:10.1016/j.parkreldis.2020.09.019 · Cited by 21 · see citing works
Seranova, E., Palhegyi, A. M., Verma, S., Dimova, S., Lasry, R., Naama, M., Sun, C., Barrett, T. G., Rosenstock, T. R., Kumar, D., et al. (2020) · Journal of Molecular Biology · doi:10.1016/j.jmb.2020.01.024 · Cited by 20 · see citing works
Frontotemporal dementia. How to deal with its diagnostic complexity?
Antonioni, A., Raho, E. M., Granieri, E., & Koch, G. (2025) · Expert Review of Neurotherapeutics · doi:10.1080/14737175.2025.2461758 · Cited by 21 · see citing works
Tsamis, K. I., Sakkas, H., Giannakis, A., Ryu, H. S., Gartzonika, C., & Nikas, I. P. (2021) · Molecular Diagnosis & Therapy · doi:10.1007/s40291-021-00513-x · Cited by 17 · see citing works
Atypical parkinsonism – new advances
Stamelou, M., & Bhatia, K. P. (2016) · Current Opinion in Neurology · doi:10.1097/wco.0000000000000355 · Cited by 18 · see citing works
Lin, H.-C., Lin, C., Chen, P., Cheng, S.-J., & Chen, P. (2017) · BMC Neurology · doi:10.1186/s12883-017-0966-3 · Cited by 18 · see citing works
Gatto, E. M., Allegri, R., Prat, G. D., Méndez, P. C., Hanna, D. S., Dorschner, M. O., Surace, E. I., Zabetian, C. P., & Mata, I. F. (2017) · Neurobiology of Aging · doi:10.1016/j.neurobiolaging.2017.02.002 · Cited by 17 · see citing works
Transcranial Sonography in Neurodegenerative Diseases with Cognitive Decline
Favaretto, S., Walter, U., Baracchini, C., & Cagnin, A. (2017) · Journal of Alzheimer s Disease · doi:10.3233/jad-170382 · Cited by 15 · see citing works
Henríquez, F., Cabello, V., Báez, S., de Souza, L. C., Lillo, P., Martínez‐Pernía, D., Olavarría, L., Torralva, T., & Slachevsky, A. (2022) · Frontiers in Neurology · doi:10.3389/fneur.2021.768591 · Cited by 15 · see citing works
TARDBP mutations in a cohort of Italian patients with Parkinson’s disease and atypical parkinsonisms
Tiloca, C., Goldwurm, S., Calcagno, N., Verde, F., Peverelli, S., Calini, D., Zecchinelli, A., Sangalli, D., Ratti, A., Pezzoli, G., et al. (2022) · Frontiers in Aging Neuroscience · doi:10.3389/fnagi.2022.1020948 · Cited by 14 · see citing works
Gawęda-Walerych, K., Sitek, E. J., Narożańska, E., & Buratti, E. (2021) · Cells · doi:10.3390/cells10123389 · Cited by 13 · see citing works
Tau mis-splicing correlates with motor impairments and striatal dysfunction in a model of tauopathy
Damianich, A., Facal, C. L., Muñiz, J. A., Mininni, C. J., Soiza‐Reilly, M., de León, M. P., Urrutia, L., Falasco, G., Ferrario, J. E., & Avale, M. E. (2021) · Brain · doi:10.1093/brain/awab130 · Cited by 14 · see citing works
11C-CFT-PET in Presymptomatic FTDP-17: A Potential Biomarker Predicting Onset
Wu, L., Liu, J., Feng, X., Dong, J., Qin, W., Liu, Y., Wang, J., Lu, J., Chen, K., Wang, Y., et al. (2017) · Journal of Alzheimer s Disease · doi:10.3233/jad-170561 · Cited by 11 · see citing works
Dominguez, J. C., Yu, J. G., Tan, Y. J., Ng, A. R., Guzman, M. F. D., Natividad, B. P., Daroy, M. L. G., Cano, J., Yu, J. M. F., Lian, M. M., et al. (2021) · Frontiers in Neurology · doi:10.3389/fneur.2021.645913 · Cited by 11 · see citing works
Frequency and Longitudinal Course of Motor Signs in Genetic Frontotemporal Dementia
Schönecker, S., Martínez-Murcia, F. J., Rauchmann, B., Franzmeier, N., Prix, C., Wlasich, E., Loosli, S. V., Bochmann, K., Górriz, J. M., Laforce, R. J., et al. (2022) · Neurology · doi:10.1212/wnl.0000000000200828 · Cited by 11 · see citing works
Genetic mimics of the non-genetic atypical parkinsonian disorders – the ‘atypical’ atypical
Giagkou, N., Bhatia, K. P., Höglinger, G. U., & Stamelou, M. (2019) · International review of neurobiology · doi:10.1016/bs.irn.2019.10.008 · Cited by 11 · see citing works
Phenotype Heterogeneity and Genotype Correlation of MAPT Mutations in a Chinese PUMCH Cohort
Mao, C., Dong, L., Li, J., Huang, X., Lei, D., Wang, J., Chu, S., Liu, C., Peng, B., Cui, L., et al. (2020) · Journal of Molecular Neuroscience · doi:10.1007/s12031-020-01723-4 · Cited by 10 · see citing works
Pressman, P., Chen, K. H., Casey, J., Sillau, S., Chial, H. J., Filley, C. M., Miller, B. L., & LEVENSON, R. W. (2022) · Journal of Neuropsychiatry · doi:10.1176/appi.neuropsych.21070186 · Cited by 9 · see citing works
Liu, X., Jiao, B., Zhang, W., Xiao, T., Hou, L., Pan, C., Tang, B., & Shen, L. H. (2018) · Molecular Medicine Reports · doi:10.3892/mmr.2018.8962 · Cited by 9 · see citing works
Brainstem atrophy is linked to extrapyramidal symptoms in frontotemporal dementia
Heikkinen, S. V., Cajanus, A., Katisko, K., Hartikainen, P. H., Vanninen, R. L., Haapasalo, A., Krüger, J., Remes, A. M., & Solje, E. (2022) · Journal of Neurology · doi:10.1007/s00415-022-11095-x · Cited by 8 · see citing works
A Clinicopathologic Study of Movement Disorders in Frontotemporal Lobar Degeneration
Pablo‐Fernández, E. D., González‐Herrero, B., Santacruz, D. M. C., Rossor, M. N., Schott, J. M., Lashley, T., Holton, J. L., Fox, N. C., Révész, T., Warren, J. D., et al. (2020) · Movement Disorders · doi:10.1002/mds.28356 · Cited by 8 · see citing works
Variably protease-sensitive prionopathy
Kim, S. H., Yu, M. M., & Strutt, A. M. (2019) · Neurology Clinical Practice · doi:10.1212/cpj.0000000000000612 · Cited by 8 · see citing works
Nguyen, Q., Ortigoza‐Escobar, J. D., Burgunder, J., Mariotti, C., Carsten Saft, C., Hjermind, L. E., Youssov, K., Landwehrmeyer, G. B., & Bachoud‐Lévi, A. (2022) · Frontiers in Neurology · doi:10.3389/fneur.2022.817753 · Cited by 7 · see citing works
Chang, K., Lee, G.-C., Huang, C.-C., Kuo, H., Chen, C., Hsiao, Y.-C., Hsu, H.-C., Hsu, K.-J., Lin, C., Chang, C. W., et al. (2018) · Parkinsonism & Related Disorders · doi:10.1016/j.parkreldis.2018.02.045 · Cited by 7 · see citing works
Gallucci, M., Dell’Acqua, C., Boccaletto, F., Fenoglio, C., Galimberti, D., & Battista, M. E. D. (2019) · Journal of Alzheimer s Disease · doi:10.3233/jad-181298 · Cited by 6 · see citing works
Family History of AD /Dementia, Polygenic Risk Score for AD , and Parkinson's Disease
Xu, X., Li, Y., Wang, J., Cao, Y., Feng, C., Guo, Y. H., Zong, G., Sun, L., & Gao, X. (2023) · Movement Disorders Clinical Practice · doi:10.1002/mdc3.13919 · Cited by 6 · see citing works
Takeshige‐Amano, H., Nakayama, S., Nishioka, K., Li, Y., Motoi, Y., & Hattori, N. (2018) · Internal Medicine · doi:10.2169/internalmedicine.0454-17 · Cited by 6 · see citing works
The enduring enigma of sporadic chorea: A single center case series
Ruiz, P., Díaz-Feliz, L., Feliz, C., Sánchez, I. L., Fernández, A., Blanco‐Kelly, F., Tiebas, M. J. T., del Val, J., & Vinagre, I. N. (2023) · Tremor and Other Hyperkinetic Movements · doi:10.5334/tohm.800 · Cited by 5 · see citing works
Chunowski, P., Migda, B., Madetko‐Alster, N., Migda, A. M., Kutyłowski, M., Królicki, L., & Alster, P. (2024) · Frontiers in Neurology · doi:10.3389/fneur.2024.1464524 · Cited by 5 · see citing works
Васенина, Е. Е., & Levin, O. S. (2020) · S S Korsakov Journal of Neurology and Psychiatry · doi:10.17116/jnevro202012010222 · Cited by 5 · see citing works
Chu, M., Wu, L., Liu, L., Nan, H., Jiang, D., Wang, Y., & Rosa‐Neto, P. (2022) · Current Alzheimer Research · doi:10.2174/1567205020666221226122557 · Cited by 5 · see citing works
Cognitive Decline in Parkinsonism: From Clinical Phenotypes to the Genetic Background
Koros, C., Stanitsa, E., Angelopoulou, E., Papageorgiou, S. G., & Stefanis, L. (2025) · Biomedicines · doi:10.3390/biomedicines13071624 · Cited by 4 · see citing works
Piervincenzi, C., Suppa, A., Petsas, N., Fabbrini, A., Trebbastoni, A., Asci, F., Giannì, C., Berardelli, A., & Pantano, P. (2023) · Biomedicines · doi:10.3390/biomedicines11020522 · Cited by 4 · see citing works
Pathomechanismen und klinische Aspekte der frontotemporalen Lobärdegeneration
Bürger, K., Arzberger, T., Stephan, J., Levin, J., & Edbauer, D. (2016) · Der Nervenarzt · doi:10.1007/s00115-016-0259-x · Cited by 4 · see citing works
Jankovic, J. J., Hallett, M., Okun, M. S., Comella, C., Fahn, S., & Goldman, J. G. (2021) · Elsevier eBooks · doi:10.1016/b978-0-323-31071-0.00016-0 · Cited by 4 · see citing works
Self-citationZecca, C., Tortelli, R., Carrera, P., Dell’Abate, M. T., Logroscino, G., & Ferrari, M. (2022) · Critical Reviews in Clinical Laboratory Sciences · doi:10.1080/10408363.2022.2150833 · Cited by 4 · see citing works
Aloisio, S., Satolli, S., Bellini, G., & Lopriore, P. (2023) · Neurological Sciences · doi:10.1007/s10072-023-07044-9 · Cited by 4 · see citing works
Parkinson’s Disease: Contemporary Concepts and Clinical Management
Carvalho, V., Cunha, C. V., & Massano, J. (2018) · Springer eBooks · doi:10.1007/978-3-319-72938-1_17 · Cited by 3 · see citing works
Management of Motor Symptoms in Dementia Disorders
Tüfekçıoğlu, Z., Bılgıç, B., Hanagasi, H. A., & Emre, M. (2021) · Springer eBooks · doi:10.1007/978-3-030-77904-7_10 · Cited by 3 · see citing works
Purcell, N., & Manousakis, G. (2024) · Journal of Clinical Neuromuscular Disease · doi:10.1097/cnd.0000000000000501 · Cited by 3 · see citing works
Innate immune crosstalk in ALS/FTD pathogenesis
Shu, X., Yu, X., Xu, P., & Wang, A. (2026) · Cell Insight · doi:10.1016/j.cellin.2026.100340 · Cited by 2 · see citing works
Atypical parkinsonism, parkinsonism-plus syndromes and secondary parkinsonian disorders
Jankovic, J. J., Hallett, M., Okun, M. S., Comella, C., Fahn, S., & Goldman, J. G. (2021) · Elsevier eBooks · doi:10.1016/b978-0-323-31071-0.00009-3 · Cited by 2 · see citing works
Self-citationJung, N., Park, K. H., Seo, S. W., Kim, H. J., Roh, J. H., Lee, J., Park, K. W., Kwon, J. C., Jeong, J. H., Yoon, S. J., et al. (2022) · Journal of Clinical Medicine · doi:10.3390/jcm11082260 · Cited by 2 · see citing works
Case Studies in Movement Disorders: Common and Uncommon Presentations
Bhatia, K. P., Erro, R., & Stamelou, M. (2017) · Cited by 2 · see citing works
Diagnostic positif et étiologique des démences frontotemporales
Lebouvier, T., Bertoux, M., Leroy, M., Lebert, F., Deramecourt, V., & Pasquier, F. (2019) · Pratique Neurologique - FMC · doi:10.1016/j.praneu.2019.02.012 · Cited by 2 · see citing works
Takeda, A., & Miller, B. L. (2020) · doi:10.1093/med/9780198713005.003.0041 · Cited by 2 · see citing works
Picillo, M., Ginevrino, M., Dati, G., Scannapieco, S., Vallelunga, A., Siano, P., Volpe, G., Ceravolo, R., Nicoletti, V., Cicero, C. E., et al. (2021) · Parkinsonism & Related Disorders · doi:10.1016/j.parkreldis.2021.01.024 · Cited by 2 · see citing works
Frontotemporal Dementia-Parkinsonism Due to MAPT Gene Variant Presenting with Rest and Action Tremor
Bhattacharjee, S., & Kobylecki, C. (2023) · Tremor and Other Hyperkinetic Movements · doi:10.5334/tohm.804 · Cited by 1 · see citing works
Su, D., Jing, Y., Su, J., Zhu, H., Chen, Y., He, Q., Wang, D., Kang, D., & Lin, Y. (2025) · Scientific Reports · doi:10.1038/s41598-025-12054-y · Cited by 1 · see citing works
Zhuang, J., Zhang, Z., Jin, H., Qi, J., Chen, Y., Ding, L., Fu, C., & Cheng, W. (2025) · Neuroscience · doi:10.1016/j.neuroscience.2025.09.053 · Cited by 1 · see citing works
Ethnic and Epidemiological Peculiarities of Movement Disorders across the World
Moura, J., Balint, B., Cullinane, P. W., Alhashash, H., Magrinelli, F., Latorre, A., & Bhatia, K. P. (2025) · Movement Disorders Clinical Practice · doi:10.1002/mdc3.70475 · Cited by 1 · see citing works
Băjan, S., Sikora-Medvid, A. K., Tamasan, S. C., Murariu, A., & ENĂTESCU, V. R. (2026) · Reports — Medical Cases Images and Videos · doi:10.3390/reports9020133 · Cited by 1 · see citing works
SCA31 Flies Perform in a Balancing Act between RAN Translation and RNA-Binding Proteins
Jackson, G. R. (2017) · Neuron · doi:10.1016/j.neuron.2017.03.030 · Cited by 1 · see citing works
- Authors
- Baizabal-Carvallo, J. F., & Jankovic, J.
- Affiliations
- Baylor College of Medicine (US)
- Corresponding author
- Jankovic, Joseph
- ORCID
- Jankovic, Joseph
- Venue
- Nature Reviews Neurology
- Published
- 2016-02-19
- Volume
- 12
- Issue
- 3
- Pages
- 175-185
- ISSN
- 1759-4758 (ISSN-L)
- 1759-4766
- OpenAlex
- W2275046571
- Cited by
- 121
- References
- 162
- Citations by year
- 2026: 7 · 2025: 9 · 2024: 5 · 2023: 7 · 2022: 16 · 2021: 15 · 2020: 15 · 2019: 13 · 2018: 11 · 2017: 16 · 2016: 7
- FWCI
- 2.18
- Type
- journal article
- Language
- en
- Open access
- closed
- Licence
- www.springer.com/tdm (tdm)
- Locations
- Nature Reviews Neurology (publishedVersion)
- PubMed (publishedVersion)
- Topics
- Health Sciences › Medicine › Neurology › Amyotrophic Lateral Sclerosis Research
- Health Sciences › Medicine › Psychiatry and Mental health › Dementia and Cognitive Impairment Research
- Health Sciences › Medicine › Neurology › Parkinson's Disease Mechanisms and Treatments
- Keywords
- frontotemporal dementia, parkinsonism, movement disorders, genetic mutations, C9orf72, progranulin, MAPT, tau protein, corticobasal syndrome, Richardson syndrome, multiple system atrophy, hyperkinetic movement disorders, stereotypy, chorea, dystonia, myoclonus, orofacial dyskinesia, genotype-phenotype correlation, neurodegeneration
- MeSH terms
- Animals, Atrophy, Brain, Humans, Movement Disorders, Parkinsonian Disorders, Frontotemporal Dementia
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