{"status":"ok","message-type":"work","message-version":"1.0.0","message":{"indexed":{"date-parts":[[2025,11,30]],"date-time":"2025-11-30T09:12:16Z","timestamp":1764493936607,"version":"3.37.3"},"reference-count":23,"publisher":"Springer Science and Business Media LLC","issue":"12","license":[{"start":{"date-parts":[[2016,6,10]],"date-time":"2016-06-10T00:00:00Z","timestamp":1465516800000},"content-version":"unspecified","delay-in-days":0,"URL":"http:\/\/www.springer.com\/tdm"}],"funder":[{"DOI":"10.13039\/501100005357","name":"Agent\u00fara na Podporu V\u00fdskumu a V\u00fdvoja","doi-asserted-by":"publisher","award":["APVV 14-0872"],"award-info":[{"award-number":["APVV 14-0872"]}],"id":[{"id":"10.13039\/501100005357","id-type":"DOI","asserted-by":"publisher"}]}],"content-domain":{"domain":["link.springer.com"],"crossmark-restriction":false},"short-container-title":["J Neural Transm"],"published-print":{"date-parts":[[2016,12]]},"DOI":"10.1007\/s00702-016-1579-5","type":"journal-article","created":{"date-parts":[[2016,6,10]],"date-time":"2016-06-10T15:35:27Z","timestamp":1465572927000},"page":"1423-1433","update-policy":"https:\/\/doi.org\/10.1007\/springer_crossmark_policy","source":"Crossref","is-referenced-by-count":3,"title":["Atypical Huntington\u2019s disease with the clinical presentation of behavioural variant of frontotemporal dementia"],"prefix":"10.1007","volume":"123","author":[{"given":"Stanislav","family":"Sutovsky","sequence":"first","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Tomas","family":"Smolek","sequence":"additional","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Irina","family":"Alafuzoff","sequence":"additional","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Andrej","family":"Blaho","sequence":"additional","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Vojtech","family":"Parrak","sequence":"additional","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Peter","family":"Turcani","sequence":"additional","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Michal","family":"Palkovic","sequence":"additional","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Robert","family":"Petrovic","sequence":"additional","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Michal","family":"Novak","sequence":"additional","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Norbert","family":"Zilka","sequence":"additional","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]}],"member":"297","published-online":{"date-parts":[[2016,6,10]]},"reference":[{"issue":"4","key":"1579_CR1","doi-asserted-by":"publisher","first-page":"484","DOI":"10.1111\/j.1750-3639.2008.00147","volume":"18","author":"I Alafuzoff","year":"2008","unstructured":"Alafuzoff I, Arzberger T, Al-Sarraj S, Bodi I, Bogdanovic N, Braak H et al (2008) Staging of neurofibrillary pathology in Alzheimer\u2019s disease: a study of the BrainNet Europe Consortium. Brain Pathol 18(4):484\u2013496. doi: 10.1111\/j.1750-3639.2008.00147","journal-title":"Brain Pathol"},{"key":"1579_CR2","doi-asserted-by":"publisher","first-page":"1682","DOI":"10.1016\/j.neurobiolaging.2006.07.003","volume":"28","author":"D Albani","year":"2007","unstructured":"Albani D, Roiter I, Artuso V, Batelli S, Prato F, Pesaresi M, Galimberti D et al (2007) Presenilin-1 mutation E318G and familial Alzheimer\u2019s disease in the Italian population. Neurobiol Aging 28:1682\u20131688. doi: 10.1016\/j.neurobiolaging.2006.07.003","journal-title":"Neurobiol Aging"},{"issue":"6","key":"1579_CR3","doi-asserted-by":"publisher","first-page":"985","DOI":"10.1002\/ana.410440624","volume":"44","author":"J Aldudo","year":"1998","unstructured":"Aldudo J, Bullido MJ, Frank A, Valdivieso F (1998) Missense mutation E318G of the presenilin-1 gene appears to be a nonpathogenic polymorphism. Ann Neurol 44(6):985\u2013986. doi: 10.1002\/ana.410440624","journal-title":"Ann Neurol"},{"issue":"8","key":"1579_CR4","doi-asserted-by":"publisher","first-page":"865","DOI":"10.1136\/jnnp-2013-306948","volume":"85","author":"L Chare","year":"2014","unstructured":"Chare L, Hodges JR, Leyton CE, McGinley C, Tan RH, Kril JJ, Halliday GM (2014) New criteria for frontotemporal dementia syndromes: clinical and pathological diagnostic implications. J Neurol Neurosurg Psychiatry 85(8):865\u2013870. doi: 10.1136\/jnnp-2013-306948","journal-title":"J Neurol Neurosurg Psychiatry"},{"key":"1579_CR5","doi-asserted-by":"publisher","first-page":"183","DOI":"10.1002\/(SICI)1098-1004(1998)11:3<183::AID-HUMU1>3.0.CO;2-J","volume":"11","author":"M Cruts","year":"1998","unstructured":"Cruts M, Van Broeckhoven C (1998) Presenilin mutations in Alzheimer\u2019s disease. Hum Mutat 11:183\u2013190. doi: 10.1002\/(SICI)1098-1004(1998)11:3<183:AID-HUMU1>3.0.CO;2-J","journal-title":"Hum Mutat"},{"key":"1579_CR6","doi-asserted-by":"publisher","first-page":"290","DOI":"10.1086\/302200","volume":"64","author":"B Dermaut","year":"1999","unstructured":"Dermaut B, Cruts M, Slooter AJ, Van Gestel S, De Jonghe C, Vanderstichele H (1999) The Glu318Gly substitution in presenilin 1 is not causally related to Alzheimer disease. Am J Hum Genet 64:290\u2013292. doi: 10.1086\/302200","journal-title":"Am J Hum Genet"},{"key":"1579_CR7","doi-asserted-by":"publisher","first-page":"6489","DOI":"10.1074\/jbc.M705306200","volume":"283","author":"H Doi","year":"2008","unstructured":"Doi H, Okamura K, Bauer PO, Furukawa Y, Shimizu H, Kurosawa M, Machida Y, Miyazaki H, Mitsui K, Kuroiwa Y, Nukina N (2008) RNA-binding protein TLS is a major nuclear aggregate-interacting protein in Huntingtin exon 1 with expanded polyglutamine-expressing cells. J Biol Chem 283:6489\u20136500. doi: 10.1074\/jbc.M705306200","journal-title":"J Biol Chem"},{"key":"1579_CR8","doi-asserted-by":"publisher","first-page":"131","DOI":"10.1016\/j.neures.2009.10.004","volume":"66","author":"H Doi","year":"2010","unstructured":"Doi H, Koyano S, Suzuki Y, Nukina N, Kuroiwa Y (2010) The RNA-binding protein FUS\/TLS is a common aggregate-interacting protein in polyglutamine diseases. Neurosci Res 66:131\u2013133. doi: 10.1016\/j.neures.2009.10.004","journal-title":"Neurosci Res"},{"key":"1579_CR9","doi-asserted-by":"publisher","first-page":"3","DOI":"10.1007\/7854_2013_238","volume":"22","author":"R Ghosh","year":"2015","unstructured":"Ghosh R, Tabrizi SJ (2015) Clinical aspects of Huntington\u2019s disease. Curr Top Behav Neurosci 22:3\u201331. doi: 10.1007\/7854_2013_238","journal-title":"Curr Top Behav Neurosci"},{"issue":"10","key":"1579_CR10","doi-asserted-by":"publisher","first-page":"1624","DOI":"10.1001\/archneur.62.10.1624","volume":"62","author":"JS Goldman","year":"2005","unstructured":"Goldman JS, Johnson JK, McElligott K, Suchowersky O, Miller BL, Van Deerlin VM (2005) Presenilin 1 Glu318Gly polymorphism: interpret with caution. Arch Neurol 62(10):1624\u20131627. doi: 10.1001\/archneur.62.10.1624","journal-title":"Arch Neurol"},{"key":"1579_CR11","doi-asserted-by":"crossref","first-page":"65","DOI":"10.1016\/S0304-3940(99)00891-5","volume":"278","author":"S Helisalmi","year":"2000","unstructured":"Helisalmi S, Hiltunen M, Mannermaa A, Koivisto AM, Lehtovirta M, Alafuzoff I et al (2000) Presenilin mutations in Alzheimer\u2019s disease. Is the presenilin-1 E318G missense mutation a risk factor for Alzheimer\u2019s disease? Neurosci Lett 278:65\u201368","journal-title":"Neurosci Lett"},{"key":"1579_CR12","doi-asserted-by":"publisher","first-page":"41","DOI":"10.1212\/01.wnl.0000191307.69661.c3","volume":"66","author":"KA Josephs","year":"2006","unstructured":"Josephs KA, Petersen RC, Knopman DS et al (2006) Clinicopathologic analysis of frontotemporal and corticobasal degenerations and PSP. Neurology 66:41\u201348. doi: 10.1212\/01.wnl.0000191307.69661.c3","journal-title":"Neurology"},{"key":"1579_CR13","doi-asserted-by":"crossref","first-page":"57","DOI":"10.1111\/j.1471-4159.2004.02692.x","volume":"91","author":"U Nagaoka","year":"2004","unstructured":"Nagaoka U, Kim K, Jana NR, Doi H, Maruyama M, Mitsui K, Oyama F, Nukina N (2004) Increased expression of p62 in expanded polyglutamine-expressing cells and its association with polyglutamine inclusions. J Neurochem 91:57\u201368","journal-title":"J Neurochem"},{"key":"1579_CR14","doi-asserted-by":"publisher","first-page":"674","DOI":"10.1017\/S1041610210000098","volume":"22","author":"TR Nielsen","year":"2010","unstructured":"Nielsen TR, Bruhn P, Nielsen JE, Hjermind LE (2010) Behavioral variant of frontotemporal dementia mimicking Huntington\u2019s disease. Int Psychogeriatr 22:674\u2013677. doi: 10.1017\/S1041610210000098","journal-title":"Int Psychogeriatr"},{"key":"1579_CR15","doi-asserted-by":"publisher","first-page":"2456","DOI":"10.1093\/brain\/awr179","volume":"134","author":"K Rascovsky","year":"2011","unstructured":"Rascovsky K, Hodges JR, Knopman D, Mendez MF, Kramer JH, Neuhaus J, van Swieten JC et al (2011) Sensitivity of revised diagnostic criteria for the behavioural variant of frontotemporal dementia. Brain 134:2456\u20132477. doi: 10.1093\/brain\/awr179","journal-title":"Brain"},{"key":"1579_CR16","doi-asserted-by":"publisher","first-page":"147","DOI":"10.1007\/s00401-008-0395-x","volume":"116","author":"S Roeber","year":"2008","unstructured":"Roeber S, Mackenzie IR, Kretzschmar HA, Neumann M (2008) TDP-43-negative FTLD-U is a significant new clinico-pathological subtype of FTLD. Acta Neuropathol 116:147\u2013157. doi: 10.1007\/s00401-008-0395-x","journal-title":"Acta Neuropathol"},{"key":"1579_CR17","doi-asserted-by":"publisher","first-page":"221","DOI":"10.3109\/09540261.2013.778822","volume":"25","author":"JD Rohrer","year":"2013","unstructured":"Rohrer JD, Rosen HJ (2013) Neuroimaging in frontotemporal dementia. Int Rev Psychiatry 25:221\u2013229. doi: 10.3109\/09540261.2013.778822","journal-title":"Int Rev Psychiatry"},{"key":"1579_CR18","doi-asserted-by":"publisher","first-page":"747","DOI":"10.1007\/s00415-009-5404-z","volume":"257","author":"H Seelaar","year":"2010","unstructured":"Seelaar H, Klijnsma KY, de Koning I, van der Lugt A, Chiu WZ, Azmani A, Rozemuller AJ, van Swieten JC (2010) Frequency of ubiquitin and FUS-positive, TDP-43-negative frontotemporal lobar degeneration. J Neurol 257:747\u2013753. doi: 10.1007\/s00415-009-5404-z","journal-title":"J Neurol"},{"key":"1579_CR19","doi-asserted-by":"crossref","first-page":"31","DOI":"10.1007\/s00401-007-0236-3","volume":"114","author":"J Snowden","year":"2007","unstructured":"Snowden J, Neary D, Mann D (2007) Frontotemporal lobar degeneration: clinical and pathological relationships. Acta Neuropathol 114:31\u201338","journal-title":"Acta Neuropathol"},{"key":"1579_CR20","doi-asserted-by":"publisher","first-page":"776","DOI":"10.1038\/sj.mp.4001072","volume":"7","author":"K Taddei","year":"2002","unstructured":"Taddei K, Fisher C, Laws SM, Martins G, Paton A, Clarnette RM et al (2002) Association between presenilin-1 Glu318Gly mutation and familial Alzheimer\u2019s disease in the Australian population. Mol Psychiatry 7:776\u2013781. doi: 10.1038\/sj.mp.4001072","journal-title":"Mol Psychiatry"},{"key":"1579_CR21","doi-asserted-by":"publisher","first-page":"33","DOI":"10.1007\/s00401-010-0698-6","volume":"120","author":"H Urwin","year":"2010","unstructured":"Urwin H, Josephs KA, Rohrer JD et al (2010) FUS pathology defines the majority of tau- and TDP-43-negative frontotemporal lobar degeneration. Acta Neuropathol 120:33\u201341. doi: 10.1007\/s00401-010-0698-6","journal-title":"Acta Neuropathol"},{"key":"1579_CR22","doi-asserted-by":"publisher","first-page":"372","DOI":"10.1007\/s12031-011-9533-3","volume":"45","author":"JL Whitwell","year":"2011","unstructured":"Whitwell JL, Jack CR Jr, Parisi JE, Knopman DS, Boeve BF, Petersen RC, Dickson DW, Josephs KA (2011) Imaging signatures of molecular pathology in behavioral variant frontotemporal dementia. J Mol Neurosci 45:372\u2013378. doi: 10.1007\/s12031-011-9533-3","journal-title":"J Mol Neurosci"},{"key":"1579_CR23","doi-asserted-by":"publisher","first-page":"167","DOI":"10.1016\/j.neulet.2003.12.052","volume":"357","author":"C Zekanowski","year":"2004","unstructured":"Zekanowski C, Pep\u0142o\u0144ska B, Styczy\u0144ska M, Religa D, Pfeffer A, Czyzewski K et al (2004) The E318G substitution in PSEN1 gene is not connected with Alzheimer\u2019s disease in a large Polish cohort. Neurosci Lett 357:167\u2013170. doi: 10.1016\/j.neulet.2003.12.052","journal-title":"Neurosci Lett"}],"container-title":["Journal of Neural Transmission"],"original-title":[],"language":"en","link":[{"URL":"http:\/\/link.springer.com\/content\/pdf\/10.1007\/s00702-016-1579-5.pdf","content-type":"application\/pdf","content-version":"vor","intended-application":"text-mining"},{"URL":"http:\/\/link.springer.com\/article\/10.1007\/s00702-016-1579-5\/fulltext.html","content-type":"text\/html","content-version":"vor","intended-application":"text-mining"},{"URL":"http:\/\/link.springer.com\/content\/pdf\/10.1007\/s00702-016-1579-5.pdf","content-type":"application\/pdf","content-version":"vor","intended-application":"similarity-checking"}],"deposited":{"date-parts":[[2017,6,24]],"date-time":"2017-06-24T12:08:48Z","timestamp":1498306128000},"score":1,"resource":{"primary":{"URL":"http:\/\/link.springer.com\/10.1007\/s00702-016-1579-5"}},"subtitle":[],"short-title":[],"issued":{"date-parts":[[2016,6,10]]},"references-count":23,"journal-issue":{"issue":"12","published-print":{"date-parts":[[2016,12]]}},"alternative-id":["1579"],"URL":"https:\/\/doi.org\/10.1007\/s00702-016-1579-5","relation":{},"ISSN":["0300-9564","1435-1463"],"issn-type":[{"type":"print","value":"0300-9564"},{"type":"electronic","value":"1435-1463"}],"subject":[],"published":{"date-parts":[[2016,6,10]]}}}