Bird T, Knopman D, VanSwieten J, Rosso S, Feldman H, Tanabe H, Graff-Raford N, Geschwind D, Verpillat P, Hutton M. Epidemiology and genetics of frontotemporal dementia/Pick’s disease. Ann Neurol. 2003;54 Suppl 5:29–31.
Article
Google Scholar
Neary D, Snowden JS, Gustafson L, Passant U, Stuss D, Black S, Freedman M, Kertesz A, Robert PH, Albert M, Boone K, Miller BL, Cummings J, Benson DF. Frontotemporal lobar degeneration: a consensus on clinical diagnostic criteria. Neurology. 1998;51:1546–54.
Article
CAS
PubMed
Google Scholar
Rascovsky K, Hodges JR, Knopman D, Mendez MF, Kramer JH, Neuhaus J, van Swieten JC, Seelaar H, Dopper EG, Onyike CU, Hillis AE, Josephs KA, Boeve BF, Kertesz A, Seeley WW, Rankin KP, Johnson JK, Gorno-Tempini ML, Rosen H, Prioleau-Latham CE, Lee A, Kipps CM, Lillo P, Piguet O, Rohrer JD, Rossor MN, Warren JD, Fox NC, Galasko D, Salmon DP, Black SE, Mesulam M, Weintraub S, Dickerson BC, Diehl-Schmid J, Pasquier F, Deramecourt V, Lebert F, Pijnenburg Y, Chow TW, Manes F, Grafman J, Cappa SF, Freedman M, Grossman M, Miller BL. Sensitivity of revised diagnostic criteria for the behavioural variant of frontotemporal dementia. Brain. 2011;134:2456–77.
Article
PubMed
PubMed Central
Google Scholar
Mackenzie IR, Neumann M, Bigio EH, Cairns NJ, Alafuzoff I, Kril J, van Swieten JC, Seelaar H, Dopper EG, Onyike CU, Hillis AE, Josephs KA, Boeve BF, Kertesz A, Seeley WW, Rankin KP, Johnson JK, Gorno-Tempini ML, Rosen H, Prioleau-Latham CE, Lee A, Kipps CM, Lillo P, Piguet O, Rohrer JD, Rossor MN, Warren JD, Fox NC, Galasko D, Salmon DP, Black SE, Mesulam M, Weintraub S, Dickerson BC, Diehl-Schmid J, Pasquier F, Deramecourt V, Lebert F, Pijnenburg Y, Chow TW, Manes F, Grafman J, Cappa SF, Freedman M, Grossman M, Miller BL. Nomenclature for neuropathologic subtypes of frontotemporal lobar degeneration: consensus recommendations. Acta Neuropathol. 2009;117:15–8. doi:10.1007/s00401-008-0460-5.
Mackenzie IR, Neumann M, Bigio EH, Cairns NJ, Alafuzoff I, Kril J, Kovacs GG, Ghetti B, Halliday G, Holm IE, Ince PG, Kamphorst W, Revesz T, Rozemuller AJ, Kumar-Singh S, Akiyama H, Baborie A, Spina S, Dickson DW, Trojanowski JQ, Mann DM. Nomenclature and nosology for neuropathologic subtypes of frontotemporal lobar degeneration: an update. Acta Neuropathol. 2010;119:1–4. doi:10.1007/s00401-009-0612-2.
Article
PubMed
PubMed Central
Google Scholar
Arai T, Hasegawa M, Akiyama H, Ikeda K, Nonaka T, Mori H, Mann D, Tsuchiya K, Yoshida M, Hashizume Y, Oda T. TDP-43 is a component of ubiquitin-positive tau-negative inclusions in frontotemporal lobar degeneration and amyotrophic lateral sclerosis. Biochem Biophys Res Commun. 2006;351:602–11.
Article
CAS
PubMed
Google Scholar
Neumann M, Sampathu DM, Kwong LK, Truax AC, Micsenyi MC, Chou TT, Bruce J, Schuck T, Grossman M, Clark CM, McCluskey LF, Miller BL, Masliah E, Mackenzie IR, Feldman H, Feiden W, Kretzschmar HA, Trojanowski JQ, Lee VM. Ubiquitinated TDP-43 in frontotemporal lobar degeneration and amyotrophic lateral sclerosis. Science. 2006;314:130–3.
Article
CAS
PubMed
Google Scholar
Kwiatkowski Jr TJ, Bosco DA, Leclerc AL, Tamrazian E, Vanderburg CR, Russ C, Davis A, Gilchrist J, Kasarskis EJ, Munsat T, Valdmanis P, Rouleau GA, Hosler BA, Cortelli P, de Jong PJ, Yoshinaga Y, Haines JL, Pericak-Vance MA, Yan J, Ticozzi N, Siddique T, McKenna-Yasek D, Sapp PC, Horvitz HR, Landers JE, Brown RH Jr. Mutations in the FUS/TLS gene on chromosome 16 cause familial amyotrophic lateral sclerosis. Science. 2009;323(5918):1205–8.
Article
CAS
PubMed
Google Scholar
Vance C, Rogelj B, Hortobágyi T, De Vos KJ, Nishimura AL, Sreedharan J, Davis A, Gilchrist J, Kasarskis EJ, Munsat T, Valdmanis P, Rouleau GA, Hosler BA, Cortelli P, de Jong PJ, Yoshinaga Y, Haines JL, Pericak-Vance MA, Yan J, Ticozzi N, Siddique T, McKenna-Yasek D, Sapp PC, Horvitz HR, Landers JE, Brown RH Jr. Mutations in FUS, an RNA processing protein, cause familial amyotrophic lateral sclerosis type 6. Science. 2009;323(5918):1208–11. doi:10.1126/science.1166066.
Neumann M, Rademakers R, Roeber S, Baker M, Kretzschmar HA, Mackenzie IR. A new subtype of frontotemporal lobar degeneration with FUS pathology. Brain. 2009;132:2922–31. doi:10.1093/brain/awp214.
Article
PubMed
PubMed Central
Google Scholar
Neumann M, Roeber S, Kretzschmar HA, Rademakers R, Baker M, Mackenzie IR. Abundant FUS-immunoreactive pathology in neuronal intermediate filament inclusion disease. Acta Neuropathol. 2009;118:605–16. doi:10.1007/s00401-009-0581-5.
Article
CAS
PubMed
PubMed Central
Google Scholar
Munoz DG, Neumann M, Kusaka H, Yokota O, Ishihara K, Terada S, Kuroda S, Mackenzie IR. FUS pathology in basophilic inclusion body disease. Acta Neuropathol. 2009;118:617–27. doi:10.1007/s00401-009-0598-9.
Article
CAS
PubMed
Google Scholar
Mackenzie IR, Munoz DG, Kusaka H, Yokota O, Ishihara K, Roeber S, Kretzschmar HA, Cairns NJ, Neumann M. Distinct pathological subtypes of FTLD-FUS. Acta Neuropathol. 2011;121:207–18. doi:10.1007/s00401-010-0764-0.
Article
PubMed
Google Scholar
Rademakers R, Neumann M, Mackenzie IR. Advances in understanding the molecular basis of frontotemporal dementia. Nat Rev Neurol. 2012;8(8):423–34. doi:10.1038/nrneurol.2012.117.
CAS
PubMed
PubMed Central
Google Scholar
Yokota O, Tsuchiya K, Terada S, Ishizu H, Uchikado H, Ikeda M, Oyanagi K, Nakano I, Murayama S, Kuroda S, Akiyama H. Basophilic inclusion body disease and neuronal intermediate filament inclusion disease: a comparative clinicopathological study. Acta Neuropathol. 2008;115:561–75.
Article
PubMed
Google Scholar
Josephs KA, Whitwell JL, Parisi JE, Petersen RC, Boeve BF, Jack CR, Dickson DW. Caudate atrophy on MRI is a characteristic feature of FTLD-FUS. Eur J Neurol. 2010;17:969–75.
Article
CAS
PubMed
PubMed Central
Google Scholar
Loy CT, McCusker E, Kril JJ, Kwok JB, Brooks WS, McCann H, Isaacs A, Halliday GM. Very early-onset frontotemporal dementia with no family history predicts underlying fused in sarcoma pathology. Brain. 2010;133:e158.
Article
PubMed
Google Scholar
Seelaar H, Klijnsma KY, de Koning I, van der Lugt A, Zheng Chiu W, Azmani A, Rozemuller AJM, Van Swieten JC. Frequency of ubiquitin and FUS-positive, TDP-43-negative frontotemporal lobar degeneration. J Neurol. 2010;257:747–53.
Article
CAS
PubMed
PubMed Central
Google Scholar
Josephs KA, Hodges JR, Snowden JS, Mackenzie IR, Neumann M, Mann DM, Dickson DW. Neuropathological background of phenotypical variability in frontotemporal dementia. Acta Neuropathol. 2011;122(2):137–53. doi:10.1007/s00401-011-0839-6.
Article
PubMed
PubMed Central
Google Scholar
Strong MJ, Grace GM, Freedman M, Lomen-Hoerth C, Woolley S, Goldstein LH, Murphy J, Shoesmith C, Rosenfeld J, Leigh PN, Bruijn L, Ince P, Figlewicz D. Consensus criteria for the diagnosis of frontotemporal cognitive and behavioural syndromes in amyotrophic lateral sclerosis. Amyotroph Lateral Scler. 2009;10:131–46.
Article
PubMed
Google Scholar
Barbeau A, Duvoisin RC, Gerstenbrand F, Lakke JP, Marsden CD, Stern G. Classification of extrapyramidal disorders. Proposal for an international classification and glossary of terms. J Neurol Sci. 1981;51:311–27.
Article
CAS
PubMed
Google Scholar
Hasegawa M, Arai T, Nonaka T, Kametani F, Yoshida M, Hashizume Y, Beach TG, Buratti E, Baralle F, Morita M, Nakano I, Oda T, Tsuchiya K, Akiyama H. Phosphorylated TDP-43 in frontotemporal lobar degeneration and amyotrophic lateral sclerosis. Ann Neurol. 2008;64:60–70. doi:10.1002/ana.21425.
Article
CAS
PubMed
PubMed Central
Google Scholar
Nonaka T, Masuda-Suzukake M, Arai T, Hasegawa Y, Akatsu H, Obi T, Yoshida M, Murayama S, Mann DM, Akiyama H, Hasegawa M. Prion-like properties of pathological TDP-43 aggregates from diseased brains. Cell Rep. 2013;4(1):124–34. doi:10.1016/j.celrep.2013.06.007.
Article
CAS
PubMed
Google Scholar
Yamashita M, Nonaka T, Hirai S, Miwa A, Okado H, Arai T, Hosokawa M, Akiyama H, Hasegawa M. Distinct pathways leading to TDP-43-induced cellular dysfunctions. Hum Mol Genet. 2014;23(16):4345–56. doi:10.1093/hmg/ddu152.
Article
CAS
PubMed
Google Scholar
Kawakami I, Niizato K, Arai T, Oshima K, Anno M, Yumoto Y, Obata N, Arai M, Itokawa M, Goto J, Ichikawa Y, Hirayasu Y, Okazaki Y, Akiyama H. A case of early onset sporadic frontotemporal dementia with chorea-like involuntary movement (in Japanese with English abstract). Jpn J Geriatr Psychiatry. 2012;23:1121–7.
Google Scholar
Yoshida T, Matsushita M, Nagao Y, Takahashi Y. A case of the Frontal Type of Pick’s Disease-With special Reference to the Frontal Lobe Syndrome and “Running-away” behavior (in Japanese with English abstract). Seishinshinkeigaku Zasshi. 1981;83:129–46.
CAS
Google Scholar
Kuyama K, Kuroda S, Morioka E, Oda T. Pick’s disease with argyrophilic inclusions in the basal ganglia and brainstem (in Japanese with English abstract). Neuropathology. 1987;8:35–44.
Google Scholar
Snowden JS, Hu Q, Rollinson S, Halliwell N, Robinson A, Davidson YS, Momeni P, Baborie A, Griffiths TD, Jaros E, Perry RH, Richardson A, Pickering-Brown SM, Neary D, Mann DM. The most common type of FTLD-FUS (aFTLD-U) is associated with a distinct clinical form of frontotemporal dementia but is not related to mutations in the FUS gene. Acta Neuropathol. 2011;122:99–110.
Article
CAS
PubMed
Google Scholar
Kobayashi Z, Kawakami I, Arai T, Yokota O, Tsuchiya K, Kondo H, Shimomura Y, Haga C, Aoki N, Hasegawa M, Hosokawa M, Oshima K, Niizato K, Ishizu H, Terada S, Onaya M, Ikeda M, Oyanagi K, Nakano I, Murayama S, Akiyama H, Mizusawa H. Pathological features of FTLD-FUS in a Japanese population: analyses of nine cases. J Neurol Sci. 2013;335(1–2):89–95. doi:10.1016/j.jns.2013.08.035.
Article
CAS
PubMed
Google Scholar
Neumann M, Bentmann E, Dormann D, Jawaid A, DeJesus-Hernandez M, Ansorge O, Roeber S, Kretzschmar HA, Munoz DG, Kusaka H, Yokota O, Ang LC, Bilbao J, Rademakers R, Haass C, Mackenzie IR. FET proteins TAF15 and EWS are selective markers that distinguish FTLD with FUS pathology from amyotrophic lateral sclerosis with FUS mutations. Brain. 2011;134:2595–609. doi:10.1093/brain/awr201.
Article
PubMed
PubMed Central
Google Scholar
Abdo WF, van de Warrenburg BP, Burn DJ, Quinn NP, Bloem BR. The clinical approach to movement disorders. Nat Rev Neurol. 2010;6(1):29–37. doi:10.1038/nrneurol.2009.196.
Article
PubMed
Google Scholar
Hermann A, Walker RH. Diagnosis and treatment of chorea syndromes. Curr Neurol Neurosci Rep. 2015;15(2):514. doi:10.1007/s11910-014-0514-0.
Article
PubMed
Google Scholar
Korbsch H. Piclsche und Huntingtonsche Krankheit bei Geschwistern. Arch Psychiat. 1933;100:326–49.
Article
Google Scholar
Van Bogaert L. Syndrome extrapyramidal aucours d’une maladie de Pick. J belge Neurol Psychiat. 1934;34:315–20.
Google Scholar
Winkelman NW. Pick’s disease: general survey and report of a case with chronic chorea. Arch Neurol Psychiat. 1949;62:375–7.
Article
CAS
PubMed
Google Scholar
Jellinger K. Degenerations and exogenous lesions of the pallidum and striatum. Involvement of the striatum in system degeneration. In: Vinken PJ, Bruyn GW, editors. Hand book of Clinical Neurology 6. Amsterdum: North-Holland Publishing; 1968. p. 668–93.
Google Scholar
Nielsen TR, Bruhn P, Nielsen JE, Hjermind LE. Behavioural variant of frontotemporal dementia mimicking Huntington’s disease. Int Psychogeriatr. 2010;22:674–7. doi:10.1017/S1041610210000098.
Article
PubMed
Google Scholar
Gamez J, Corbera-Bellalta M, Mila M, López-Lisbona R, Boluda S, Ferrer I. Chorea-ballism associated with familial amyotrophic lateral sclerosis. A clinical, genetic, and neuropathological study. Mov Disord. 2008;23(3):434–8.
Article
PubMed
Google Scholar
Pradat PF, Salachas F, Lacomblez L, Patte N, Leforestier N, Gaura V, Meininger V. Association of chorea and motor neuron disease. Mov Disord. 2002;17(2):419–20.
Article
PubMed
Google Scholar
Kovacs GG, Murrell JR, Horvath S, Haraszti L, Majtenyi K, Molnar MJ, Budka H, Ghetti B, Spina S. TARDBP variation associated with frontotemporal dementia, supranuclear gaze palsy, and chorea. Mov Disord. 2009;24:1843–7. doi:10.1002/mds.22697.
Article
PubMed
Google Scholar
Hensman Moss DJ, Poulter M, Beck J, Hehir J, Polke JM, Campbell T, G, Mudanohwo E, McColgan P, Haworth A, Wild EJ, Sweeney MG, Houlden H, Mead S, Tabrizi SJ. C9orf72 expansions are the most common genetic cause of Huntington disease phenocopies. Neurology. 2014;82(4):292–9. doi:10.1212/WNL.0000000000000061.
Lee EB, Russ J, Jung H, Elman LB, Chahine LM, Kremens D, Miller BL, Branch Coslett H, Trojanowski JQ, Van Deerlin VM, McCluskey LF. Topography of FUS pathology distinguishes late-onset BIBD from aFTLD-U. Acta Neuropathol Commun. 2013;1(9):1–11.
CAS
PubMed
Google Scholar
Vonsattel JP. Huntington disease models and human neuropathology: similarities and differences. Acta Neuropathol. 2008;115(1):55–69.
Article
PubMed
PubMed Central
Google Scholar
Vonsattel JP, Myers RH, Stevens TJ, Ferrante RJ, Bird ED, Richardson Jr EP. Neuropathological classification of Huntington’s disease. J Neuropathol Exp Neurol. 1985;44(6):559–77.
Article
CAS
PubMed
Google Scholar
Sanger TD, Chen D, Fehlings DL, Hallett M, Lang AE, Mink JW, Singer HS, Alter K, Ben-Pazi H, Butler EE, Chen R, Collins A, Dayanidhi S, Forssberg H, Fowler E, Gilbert DL, Gorman SL, Gormley ME Jr, Jinnah HA, Kornblau B, Krosschell KJ, Lehman RK, MacKinnon C, Malanga CJ, Mesterman R, Michaels MB, Pearson TS, Rose J, Russman BS, Sternad D, Swoboda KJ, Valero-Cuevas F. Definition and classification of hyperkinetic movements in childhood. Mov Disord. 2010;25(11):1538–49. doi:10.1002/mds.23088.
Article
PubMed
PubMed Central
Google Scholar
Galvan L, André VM, Wang EA, Cepeda C, Levine MS. Functional Differences Between Direct and Indirect Striatal Output Pathways in Huntington’s Disease. J Huntingtons Dis. 2012;1(1):17–25. doi:10.3233/JHD-2012-120009.
PubMed
PubMed Central
Google Scholar
Munoz-Garcia D, Ludwin SK. Classic and generalized variants of Pick’s disease: a clinicopathological, ultrastructural, and immunocytochemical comparative study. Ann Neurol. 1984;16:467–80.
Article
CAS
PubMed
Google Scholar
Roos RA. Huntington’s disease a clinical review. Orphanet J Rare Dis. 2010;5(1):40. doi:10.1186/1750-1172-5-40.
Article
PubMed
PubMed Central
Google Scholar
Chou KL, Friedman JH. Tardive syndromes in the elderly. Clin Geriatr Med. 2006;22(4):915–33.
Article
PubMed
Google Scholar
Burke RE, Fahn S, Jankovic J, Marsden CD, Lang AE, Gollomp S, Ilson J. Tardive dystonia: late-onset and persistent dystonia caused by antipsychotic drugs. Neurology. 1982;32(12):1335–46.
Article
CAS
PubMed
Google Scholar
Bhidayasiri R, Boonyawairoj S. Spectrum of tardive syndromes: clinical recognition and management. Postgrad Med J. 2011;87(1024):132–41. doi:10.1136/pgmj.2010.103234.
Article
PubMed
Google Scholar
Arai T, Ikeda K, Akiyama H, Nonaka T, Hasegawa M, Ishiguro K, Iritani S, Tsuchiya K, Iseki E, Yagishita S, Oda T, Mochizuki A. Identification of amino-terminally cleaved tau fragments that distinguish progressive supranuclear palsy from corticobasal degeneration. Ann Neurol. 2004;55(1):72–9.
Article
CAS
PubMed
Google Scholar
Yokota O, Tsuchiya K, Oda T, Ishihara T, de Silva R, Lees AJ, Arai T, Uchihara T, Ishizu H, Kuroda S, Akiyama H. Amyotrophic lateral sclerosis with dementia: an autopsy case showing many Bunina bodies, tau-positive neuronal and astrocytic plaque-like pathologies, and pallido-nigral degeneration. Acta Neuropathol. 2006;112(5):633–45.
Article
PubMed
Google Scholar
Aoki N, Tsuchiya K, Kobayashi Z, Arai T, Togo T, Miyazaki H, Kondo H, Ishizu H, Uchikado H, Katsuse O, Hirayasu Y, Akiyama H. Progressive nonfluent aphasia: a rare clinical subtype of FTLD-TDP in Japan. Neuropathology. 2012;32:272–9. doi:10.1111/j.1440-1789.2011.01253.x.
Article
PubMed
Google Scholar
Kobayashi Z, Arai T, Yokota O, Tsuchiya K, Hosokawa M, Oshima K, Niizato K, Akiyama H, Mizusawa H. Atypical FTLD-FUS associated with ALS-TDP: a case report. Neuropathology. 2013;33:83–6. doi:10.1111/j.1440-1789.2012.01325.x.
Article
CAS
PubMed
Google Scholar
Mackenzie IR, Neumann M, Baborie A, Sampathu DM, Du Plessis D, Jaros E, Perry RH, Trojanowski JQ, Mann DM, Lee VM. A harmonized classification system for FTLD-TDP pathology. Acta Neuropathol. 2011;122:111–3.
Article
PubMed
PubMed Central
Google Scholar