Cited by 121Amyotrophic Lateral Sclerosis ResearchDementia and Cognitive Impairment ResearchParkinson's Disease Mechanisms and Treatments

The DOI matches its Crossref record; 162 of the 162 references it cites were found in a registry or an index.

Parkinsonism, movement disorders and genetics in frontotemporal dementia

Baizabal-Carvallo, José Fidel, Jankovic, Joseph·2016·Nature Reviews Neurology

DOI 10.1038/nrneurol.2016.14

Open this paper in CoChat — free account

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.

Integrity signals

Registry

Crossref · 10.1038/nrneurol.2016.14

Cites

162 of 162 references verified0 citation errors · 0 not checkable

Statistics

Recomputing p-values needs the paper’s full text.

Claims the paper makes

This paper’s full text isn’t openly available, so its claims and self-check weren’t run. The registry and citation checks still apply.

Claims other papers make about this one

Each is checked against this paper’s own text: does it say what the citing paper says it does?

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
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
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
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
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
TREM2 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
Primary Progressive Aphasia
Weıntraub, S. (1990) · Archives of Neurology · doi:10.1001/archneur.1990.00530120075013 · Cited by 3,018
The Determinants of Quality of Life of Nursing Home Residents with Young-Onset Dementia and the Differences between Dementia Subtypes
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 2,774
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
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
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
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
Frequency of the C9orf72 hexanucleotide repeat expansion in patients with amyotrophic lateral sclerosis and frontotemporal dementia: a cross-sectional study
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
Frontotemporal dementia
Bang, J., Spina, S., & Miller, B. L. (2015) · The Lancet · doi:10.1016/s0140-6736(15)00461-4 · Cited by 1,144
Clearance of apoptotic neurons without inflammation by microglial triggering receptor expressed on myeloid cells-2
Takahashi, K., Rochford, C. D. P., & Neumann, H. (2005) · The Journal of Experimental Medicine · doi:10.1084/jem.20041611 · Cited by 1,124
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
Characteristics of two distinct clinical phenotypes in pathologically proven progressive supranuclear palsy: Richardson's syndrome and PSP-parkinsonism
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 747
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
Which neuropsychiatric and behavioural features distinguish frontal and temporal variants of frontotemporal dementia from Alzheimer's disease?
Bozeat, S. (2000) · Journal of Neurology, Neurosurgery & Psychiatry · doi:10.1136/jnnp.69.2.178 · Cited by 603
Distinct behavioural profiles in frontotemporal dementia and semantic dementia
Snowden, J. S. (2001) · Journal of Neurology Neurosurgery & Psychiatry · doi:10.1136/jnnp.70.3.323 · Cited by 591
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
Distinct clinical and pathological characteristics of frontotemporal dementia associated with C9ORF72 mutations
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
TREM2 in neurodegeneration: evidence for association of the p.R47H variant with frontotemporal dementia and Parkinson’s disease
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
The phenotypic spectrum of progressive supranuclear palsy: A retrospective multicenter study of 100 definite cases
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 395
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
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
Plasma progranulin levels predict progranulin mutation status in frontotemporal dementia patients and asymptomatic family members
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
Using Exome Sequencing to Reveal Mutations in TREM2 Presenting as a Frontotemporal Dementia–like Syndrome Without Bone Involvement
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
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 371
Self-citation
Phenotype variability in progranulin mutation carriers: a clinical, neuropsychological, imaging and genetic study
Ber, 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 357
Characterization of frontotemporal dementia and/or amyotrophic lateral sclerosis associated with the GGGGCC repeat expansion in C9ORF72
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 351
Clinical characteristics of a family with chromosome 17‐linked disinhibition‐dementia‐ parkinsonism‐amyotrophy complex
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
Principles and Practice of Movement Disorders
(2011) · Elsevier eBooks · doi:10.1016/c2009-0-44357-5 · Cited by 276
Binge eating is associated with right orbitofrontal-insular-striatal atrophy in frontotemporal dementia
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
Mutations in progranulin (GRN) within the spectrum of clinical and pathological phenotypes of frontotemporal dementia
Swieten, J. C. V., & Heutink, P. (2008) · The Lancet Neurology · doi:10.1016/s1474-4422(08)70194-7 · Cited by 239
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 230
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 218
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
Untitled work
(1998) · PubMed · Cited by 213
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 207
C9orf72 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
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 200
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
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 197
Untitled work
(2005) · PubMed · Cited by 191
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
The Spectrum of Mutations in Progranulin: A Collaborative Study Screening 545 Cases of Neurodegeneration
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
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
Deciphering logopenic primary progressive aphasia: a clinical, imaging and biomarker investigation
Teichmann, M., Kas, A., Boutet, C., Ferrieux, S., Nogues, M., Samri, D., Rogan, C., Dormont, D., Dubois, B., & Migliaccio, R. (2013) · Brain · doi:10.1093/brain/awt266 · Cited by 189
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 185
Atypical, slowly progressive behavioural variant frontotemporal dementia associated with C9ORF72 hexanucleotide expansion
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
Neuropathologic Features of Frontotemporal Lobar Degeneration With Ubiquitin-Positive Inclusions With Progranulin Gene (PGRN) Mutations
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 184
Tauopathies with parkinsonism: clinical spectrum, neuropathologic basis, biological markers, and treatment options
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 174
The widening spectrum of C9ORF72-related disease; genotype/phenotype correlations and potential modifiers of clinical phenotype
Cooper‐Knock, J., Shaw, P. J., & Kirby, J. (2014) · Acta Neuropathologica · doi:10.1007/s00401-014-1251-9 · Cited by 169
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 165
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
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
Nasu–Hakola Disease (Polycystic Lipomembranous Osteodysplasia with Sclerosing Leukoencephalopathy—PLOSL): A Dementia Associated with Bone Cystic Lesions. From Clinical to Genetic and Molecular Aspects
Bianchin, M. M., Capella, H. M., Chaves, D. L., Steindel, M., Grisard, E. C., Ganev, G. G., da Silva, J. P., Neto, E. S., Poffo, M. A., Walz, R., et al. (2004) · Cellular and Molecular Neurobiology · doi:10.1023/b:cemn.0000012721.08168.ee · Cited by 154
A study of stereotypic behaviours in Alzheimer’s disease and frontal and temporal variant frontotemporal dementia
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
Variants in triggering receptor expressed on myeloid cells 2 are associated with both behavioral variant frontotemporal lobar degeneration and Alzheimer's disease
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
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 144
Self-citation
Corticobasal and ataxia syndromes widen the spectrum of C9ORF72 hexanucleotide expansion disease
Lindquist, 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
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
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
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
Inherited frontotemporal dementia in nine British families associated with intronic mutations in the tau gene
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
α-Internexin Is Present in the Pathological Inclusions of Neuronal Intermediate Filament Inclusion Disease
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
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
“Atypical” atypical parkinsonism: New genetic conditions presenting with features of progressive supranuclear palsy, corticobasal degeneration, or multiple system atrophy—A diagnostic guide
Stamelou, M., Quinn, N. P., & Bhatia, K. P. (2013) · Movement Disorders · doi:10.1002/mds.25509 · Cited by 122
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 113
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
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
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
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 108
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 102
Homozygous TREM2 mutation in a family with atypical frontotemporal dementia
Ber, I. L., de Septenville, A. L., Guerreiro, R. J., Brás, 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 99
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 99
Distinct Clinical Characteristics of C9orf72 Expansion Carriers Compared With GRN, MAPT, and Nonmutation Carriers in a Flanders-Belgian FTLD Cohort
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 99
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 98
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
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 96
Efficacy of Fluvoxamine as a Treatment for Behavioral Symptoms in Frontotemporal Lobar Degeneration Patients
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
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 94
Dystonia in corticobasal degeneration
Vanek, Z. F., & Jankovic, J. J. (2001) · Movement Disorders · doi:10.1002/mds.1038 · Cited by 91
Self-citation
Broadening the phenotype of TARDBP mutations: the TARDBP Ala382Thr mutation and Parkinson’s disease in Sardinia
Quadri, 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 90
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 89
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
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
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
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 75
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
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 73
Multiple System Atrophy and Amyotrophic Lateral Sclerosis in a Family With Hexanucleotide Repeat Expansions inC9orf72
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
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
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 67
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
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
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 64
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
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
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
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
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
Self-citation
Two 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
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
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
A patient carrying a homozygous p.A382T TARDBP missense mutation shows a syndrome including ALS, extrapyramidal symptoms, and FTD
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 57
Longitudinal characterization of two siblings with frontotemporal dementia and parkinsonism linked to chromosome 17 associated with the S305N tau mutation.
Boeve, B., Tremont-Lukats, I., Waclawik, A., Murrell, J., Hermann, B., Jack, C., Shiung, M., Smith, G. E., Nair, A. R., Lindor, N., et al. (2005) · Brain : a journal of neurology · doi:10.1093/brain/awh356 · Cited by 55
Frontotemporal dementia with psychosis, parkinsonism, visuo-spatial dysfunction, upper motor neuron involvement associated to expansion of C9ORF72: a peculiar phenotype?
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
Novel L284R MAPT Mutation in a Family with an Autosomal Dominant Progressive Supranuclear Palsy Syndrome
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
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
C9ORF72 expansion in amyotrophic lateral sclerosis/frontotemporal dementia also causes parkinsonism
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
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 52
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
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 49
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
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
Putaminal Volume in Frontotemporal Lobar Degeneration and Alzheimer Disease: Differential Volumes in Dementia Subtypes and Controls
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
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
Wide phenotypic spectrum of the TARDBP gene: homozygosity of A382T mutation in a patient presenting with amyotrophic lateral sclerosis, Parkinson's disease, and frontotemporal lobar degeneration, and in neurologically healthy subject
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
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
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
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
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
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
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 35
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
Clinical and genetic features of families with frontotemporal dementia and parkinsonism linked to chromosome 17 with a P301S tau mutation
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
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
Frontotemporal Dementia
Perry, D., & Miller, B. (2013) · Seminars in neurology · doi:10.1055/s-0033-1359316 · Cited by 32
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
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
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
Evaluation of Dopaminergic Function in Frontotemporal Dementia Using 123I-FP-CIT Single Photon Emission Computed Tomography
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
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
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
FTLD-TDP with motor neuron disease, visuospatial impairment and a progressive supranuclear palsy-like syndrome: broadening the clinical phenotype of TDP-43 proteinopathies. A report of three cases
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
Positron emission tomography in pallido-ponto-nigral degeneration (PPND) family (frontotemporal dementia with parkinsonism linked to chromosome 17 and point mutation in tau gene)
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
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
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
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
The spectrum of mutations in progranulin: a collaborative study screening 545 cases of neurodegeneration
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
C9orf72 Hexanucleotide Repeat Expansion and Guam Amyotrophic Lateral Sclerosis–Parkinsonism-Dementia Complex
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
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 24
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 23
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
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
Evidence of Pre-Synaptic Dopaminergic Deficit in a Patient with a Novel Progranulin Mutation Presenting with Atypical Parkinsonism
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
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
Frontotemporal dementia and Parkinsonism linked to chromosome 17 in a young Australian patient with the G389R Tau mutation
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
Rapidly progressive atypical parkinsonism associated with frontotemporal lobar degeneration and motor neuron disease
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
Phenotypic presentation of frontotemporal dementia with Parkinsonism‐chromosome 17 type P301S in a patient of Jewish‐Algerian origin
Werber, E. A., Klein, C., Grünfeld, J., & Rabey, J. M. (2003) · Movement Disorders · doi:10.1002/mds.10401 · Cited by 16
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
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
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
Self-citation
KP1 expression of ghost Pick bodies, amyloid P-positive astrocytes and selective nigral degeneration in early onset Picks disease.
Kobayashi, K., Hayashi, M., Fukutani, Y., Miyazu, K., Shiozawa, M., Muramori, F., Aoki, T., & Koshino, Y. (1999) · PubMed · Cited by 12
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
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
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
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
Axonal loss in multiple sclerosis lesions: magnetic resonance imaging insights substrates of disability
Sperfeld (1999) · Pure Amsterdam UMC · doi:10.1002/1531-8249(199911)46:5 · Cited by 2
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

Sorted by citations

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
Parkinson disease
Balestrino, R., & Schapira, A. H. V. (2020) · European Journal of Neurology · doi:10.1111/ene.14108 · Cited by 1,508
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
Neurotransmitter deficits from frontotemporal lobar degeneration
Murley, A. G., & Rowe, J. B. (2017) · Brain · doi:10.1093/brain/awx327 · Cited by 211
Lysosomal Dysfunction at the Centre of Parkinson’s Disease and Frontotemporal Dementia/Amyotrophic Lateral Sclerosis
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 153

See all 121

Authors: Baizabal-Carvallo, J. F., & Jankovic, J.
Affiliations: Baylor College of Medicine (US)
Corresponding author: Jankovic, Joseph
ORCID: Jankovic, Joseph
Venue: Nature Reviews Neurology
Publisher: Springer Science and Business Media LLC
Published: 2016-02-19
Volume: 12
Issue: 3
Pages: 175-185
ISSN: 1759-4758 (ISSN-L)
1759-4766
DOI: 10.1038/nrneurol.2016.14
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 › Clinical Neurology › Amyotrophic Lateral Sclerosis Research
Health Sciences › Medicine › Psychiatry and Mental health › Dementia and Cognitive Impairment Research
Health Sciences › Medicine › Clinical 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

About these checks

Registry, retraction, Cites and statistics results are computed, not judged, with one exception: a printed reference that no index lists is read once by a model before it counts as a citation error. Claims are extracted by a model and kept only when their quote appears verbatim in the text; each cited source is then checked, with a model’s help, for whether it says what the claim relies on. Those verdicts can be wrong — read the claim’s quote and the cited source before relying on one.

Statistics and arithmetic are recomputed, not judged.

Confidence bands are shown only for fields calibrated on our annotated test set. None is calibrated yet, so no band is shown.

What counts as a claim ›How we measure confidence ›How we check this ›

Are you an author, or do you see a problem with this page? Request a review

Parkinsonism, movement disorders and genetics in frontotemporal dementia

Abstract

Overview

Integrity signals

Verification

Claims the paper makes

Claims other papers make about this one

Citations

Cites

Cited by

Related

Metadata

Record

About these checks