{"status":"ok","message-type":"work","message-version":"1.0.0","message":{"indexed":{"date-parts":[[2026,5,12]],"date-time":"2026-05-12T19:33:52Z","timestamp":1778614432045,"version":"3.51.4"},"reference-count":28,"publisher":"Springer Science and Business Media LLC","issue":"6686","license":[{"start":{"date-parts":[[1998,6,1]],"date-time":"1998-06-01T00:00:00Z","timestamp":896659200000},"content-version":"tdm","delay-in-days":0,"URL":"http:\/\/www.springer.com\/tdm"}],"content-domain":{"domain":[],"crossmark-restriction":false},"short-container-title":["Nature"],"published-print":{"date-parts":[[1998,6]]},"DOI":"10.1038\/31508","type":"journal-article","created":{"date-parts":[[2002,7,26]],"date-time":"2002-07-26T08:39:15Z","timestamp":1027672755000},"page":"702-705","source":"Crossref","is-referenced-by-count":2863,"title":["Association of missense and 5\u2032-splice-site mutations in tau  with the inherited dementia FTDP-17"],"prefix":"10.1038","volume":"393","author":[{"given":"Mike","family":"Hutton","sequence":"first","affiliation":[]},{"given":"Corinne L.","family":"Lendon","sequence":"additional","affiliation":[]},{"given":"Patrizia","family":"Rizzu","sequence":"additional","affiliation":[]},{"given":"Matt","family":"Baker","sequence":"additional","affiliation":[]},{"given":"Susanne","family":"Froelich","sequence":"additional","affiliation":[]},{"given":"Henry","family":"Houlden","sequence":"additional","affiliation":[]},{"given":"Stuart","family":"Pickering-Brown","sequence":"additional","affiliation":[]},{"given":"Sumi","family":"Chakraverty","sequence":"additional","affiliation":[]},{"given":"Adrian","family":"Isaacs","sequence":"additional","affiliation":[]},{"given":"Andrew","family":"Grover","sequence":"additional","affiliation":[]},{"given":"Jennifer","family":"Hackett","sequence":"additional","affiliation":[]},{"given":"Jennifer","family":"Adamson","sequence":"additional","affiliation":[]},{"given":"Sarah","family":"Lincoln","sequence":"additional","affiliation":[]},{"given":"Dennis","family":"Dickson","sequence":"additional","affiliation":[]},{"given":"Peter","family":"Davies","sequence":"additional","affiliation":[]},{"given":"Ronald C.","family":"Petersen","sequence":"additional","affiliation":[]},{"given":"Martijn","family":"Stevens","sequence":"additional","affiliation":[]},{"given":"Esther","family":"de Graaff","sequence":"additional","affiliation":[]},{"given":"Erwin","family":"Wauters","sequence":"additional","affiliation":[]},{"given":"Jeltje","family":"van Baren","sequence":"additional","affiliation":[]},{"given":"Marcel","family":"Hillebrand","sequence":"additional","affiliation":[]},{"given":"Marijke","family":"Joosse","sequence":"additional","affiliation":[]},{"given":"Jennifer M.","family":"Kwon","sequence":"additional","affiliation":[]},{"given":"Petra","family":"Nowotny","sequence":"additional","affiliation":[]},{"given":"Lien Kuei","family":"Che","sequence":"additional","affiliation":[]},{"given":"Joanne","family":"Norton","sequence":"additional","affiliation":[]},{"given":"John C.","family":"Morris","sequence":"additional","affiliation":[]},{"given":"Lee A.","family":"Reed","sequence":"additional","affiliation":[]},{"given":"John","family":"Trojanowski","sequence":"additional","affiliation":[]},{"given":"Hans","family":"Basun","sequence":"additional","affiliation":[]},{"given":"Lars","family":"Lannfelt","sequence":"additional","affiliation":[]},{"given":"Michael","family":"Neystat","sequence":"additional","affiliation":[]},{"given":"Stanley","family":"Fahn","sequence":"additional","affiliation":[]},{"given":"Francis","family":"Dark","sequence":"additional","affiliation":[]},{"given":"Tony","family":"Tannenberg","sequence":"additional","affiliation":[]},{"given":"Peter R.","family":"Dodd","sequence":"additional","affiliation":[]},{"given":"Nick","family":"Hayward","sequence":"additional","affiliation":[]},{"given":"John B. J.","family":"Kwok","sequence":"additional","affiliation":[]},{"given":"Peter R.","family":"Schofield","sequence":"additional","affiliation":[]},{"given":"Athena","family":"Andreadis","sequence":"additional","affiliation":[]},{"given":"Julie","family":"Snowden","sequence":"additional","affiliation":[]},{"given":"David","family":"Craufurd","sequence":"additional","affiliation":[]},{"given":"David","family":"Neary","sequence":"additional","affiliation":[]},{"given":"Frank","family":"Owen","sequence":"additional","affiliation":[]},{"given":"Ben A.","family":"Oostra","sequence":"additional","affiliation":[]},{"given":"John","family":"Hardy","sequence":"additional","affiliation":[]},{"given":"Alison","family":"Goate","sequence":"additional","affiliation":[]},{"given":"John","family":"van Swieten","sequence":"additional","affiliation":[]},{"given":"David","family":"Mann","sequence":"additional","affiliation":[]},{"given":"Timothy","family":"Lynch","sequence":"additional","affiliation":[]},{"given":"Peter","family":"Heutink","sequence":"additional","affiliation":[]}],"member":"297","reference":[{"key":"BF31508_CR1","doi-asserted-by":"publisher","first-page":"706","DOI":"10.1002\/ana.410410606","volume":"41","author":"NL Foster","year":"1997","unstructured":"Foster, N. L. et al. Frontotemporal Dementia and Parkinsonism Linked to Chromosome 17: A Consensus Statement. Annu. Neurol. 41, 706\u2013715 (1997).","journal-title":"Annu. Neurol."},{"key":"BF31508_CR2","first-page":"1159","volume":"55","author":"KC Wilhelmsen","year":"1994","unstructured":"Wilhelmsen, K. C., Lynch, T., Pavlou, E. & Nygaard, T. G. Localization of disinhibition-dementia-parkinsonism-amyotrophy complex to 17q21-22.  Am. J. Hum. Genet. 55, 1159\u20131165 (1994).","journal-title":"Am. J. Hum. Genet."},{"key":"BF31508_CR3","doi-asserted-by":"publisher","first-page":"794","DOI":"10.1002\/ana.410420516","volume":"42","author":"M Baker","year":"1997","unstructured":"Baker, M. et al. Localization of frontotemporal dementia with parkinsonism in an Australian kindred to chromosome 17q21-22. Annu. Neurol.  42, 794\u2013798 (1997).","journal-title":"Annu. Neurol."},{"key":"BF31508_CR4","doi-asserted-by":"publisher","first-page":"380","DOI":"10.1002\/(SICI)1096-8628(19970725)74:4<380::AID-AJMG8>3.0.CO;2-T","volume":"74","author":"S Froelich","year":"1997","unstructured":"Froelich, S. et al. Mapping of a disease locus for familial rapidly progressive frontotemporal dementia to chromosome 17q12-21. Am. J. Med. Genet.  74, 380\u2013385 ( 1997).","journal-title":"Am. J. Med. Genet."},{"key":"BF31508_CR5","doi-asserted-by":"publisher","first-page":"1131","DOI":"10.1086\/301594","volume":"61","author":"J Murrell","year":"1997","unstructured":"Murrell, J. et al. Familial multiple system tauopathy with presenile dementia localized to chromosome 17. Am. J. Hum. Genet. 61, 1131\u20131138 (1997).","journal-title":"Am. J. Hum. Genet."},{"key":"BF31508_CR6","doi-asserted-by":"publisher","first-page":"151","DOI":"10.1093\/hmg\/5.1.151","volume":"5","author":"M Wijker","year":"1996","unstructured":"Wijker, M. et al. Localization of the gene for rapidly progressive autosomal dominant parkinsonism and dementia with pallido-ponto-nigral degeneration to chromosome 17q21. Hum. Mol. Genet. 5, 151\u2013 154 (1996).","journal-title":"Hum. Mol. Genet."},{"key":"BF31508_CR7","doi-asserted-by":"publisher","first-page":"150","DOI":"10.1002\/ana.410410205","volume":"41","author":"P Heutink","year":"1997","unstructured":"Heutink, P. et al. Hereditary fronto-temporal dementia is linked to chromosome 17q21-22. A genetic and clinico-pathological study of three Dutch families. Annu. Neurol. 41, 150\u2013 159 (1997).","journal-title":"Annu. Neurol."},{"key":"BF31508_CR8","first-page":"1306","volume":"59","author":"LH Yamaoka","year":"1996","unstructured":"Yamaoka, L. H. et al . Linkage of frontotemporal dementia to chromosome 17- clinical and neuropathological characterization of phenotype. Am. J. Hum. Genet. 59, 1306\u20131312 ( 1996).","journal-title":"Am. J. Hum. Genet."},{"key":"BF31508_CR9","doi-asserted-by":"publisher","first-page":"139","DOI":"10.3109\/00048679709073812","volume":"31","author":"F Dark","year":"1997","unstructured":"Dark, F. Afamily with autosomal dominant, non-Alzheimer's presenile dementia. Austr. N. Z. J. Psychiat. 31, 139\u2013144 (1997).","journal-title":"Austr. N. Z. J. Psychiat."},{"key":"BF31508_CR10","doi-asserted-by":"publisher","first-page":"208","DOI":"10.1159\/000114320","volume":"11","author":"J Constantinidis","year":"1974","unstructured":"Constantinidis, J., Richard, J. & Tissot, R. Pick's disease: Histological and clinical classification. Eur. Neurol. 11, 208\u2013217 (1974).","journal-title":"Eur. Neurol."},{"key":"BF31508_CR11","doi-asserted-by":"publisher","first-page":"10626","DOI":"10.1021\/bi00158a027","volume":"31","author":"A Andreadis","year":"1992","unstructured":"Andreadis, A., Brown, W. M. & Kosik, K. S. Structure and novel exons of the human tau gene. Biochemistry 31, 10626\u2013 10633 (1992).","journal-title":"Biochemistry"},{"key":"BF31508_CR12","doi-asserted-by":"publisher","first-page":"387","DOI":"10.1111\/j.1750-3639.1998.tb00162.x","volume":"8","author":"MG Spillantini","year":"1998","unstructured":"Spillantini, M. G., Bird, T. D. & Ghetti, B. Frontotemporal dementia and parkinsonism linked to chromosome 17: A new group of tauopathies. Brain Path. 8, 387\u2013402 (1998).","journal-title":"Brain Path."},{"key":"BF31508_CR13","doi-asserted-by":"publisher","first-page":"393","DOI":"10.1002\/j.1460-2075.1989.tb03390.x","volume":"8","author":"M Goedert","year":"1989","unstructured":"Goedert, M., Spillantini, M. G., Potier, M. C., Ulrich, J. & Crowther, R. A. Cloning and sequencing of the cDNA encoding an isoform of microtubule-associated protein tau containing four tandem repeats: differential expression of tau protein mRNAs in human brain. EMBO J. 8, 393\u2013399 (1989).","journal-title":"EMBO J."},{"key":"BF31508_CR14","doi-asserted-by":"publisher","first-page":"4113","DOI":"10.1073\/pnas.94.8.4113","volume":"94","author":"MG Spillantini","year":"1997","unstructured":"Spillantini, M. G.  et al. Familial multiple system tauopathy with presenile dementia: a disease with abundant neuronal and glial tau filaments.  Proc. Natl Acad. Sci. USA 94, 4113\u2013 4118 (1997).","journal-title":"Proc. Natl Acad. Sci. USA"},{"key":"BF31508_CR15","doi-asserted-by":"publisher","first-page":"550","DOI":"10.1038\/383550a0","volume":"383","author":"M Goedert","year":"1996","unstructured":"Goedert, M. et al. Assembly of microtuble-associated protein tau into Alzheimer-like filaments induced by sulphated glycosaminoglycans. Nature  383, 550\u2013553 (1996).","journal-title":"Nature"},{"key":"BF31508_CR16","doi-asserted-by":"publisher","first-page":"519","DOI":"10.1016\/0896-6273(89)90210-9","volume":"3","author":"M Goedert","year":"1989","unstructured":"Goedert, M., Spillantini, M. G., Jakes, R., Rutherford, D. & Crowther, R. A. Multiple isoforms of human microtuble-associated protein tau: sequence and localization in neurofibrillary tangles of Alzheimer's disease. Neuron 3, 519\u2013 526 (1989).","journal-title":"Neuron"},{"key":"BF31508_CR17","doi-asserted-by":"publisher","first-page":"416","DOI":"10.1136\/jnnp.57.4.416","volume":"57","author":"The Lund and Manchester groups","year":"1994","unstructured":"The Lund and Manchester groups. Clinical and neuropathological criteria for frontotemporal dementia.  J. Neurol. Neurosurg. Psychiat. 57, 416\u2013 418 (1994).","journal-title":"J. Neurol. Neurosurg. Psychiat."},{"key":"BF31508_CR18","doi-asserted-by":"publisher","first-page":"717","DOI":"10.1083\/jcb.115.3.717","volume":"115","author":"KA Butner","year":"1991","unstructured":"Butner, K. A. Kirschner, M. W. J. Tau protein binds to microtubules through a flexible array of distributed weak sites.  J. Cell. Biol. 115, 717\u2013730 (1991).","journal-title":"J. Cell. Biol."},{"key":"BF31508_CR19","doi-asserted-by":"publisher","first-page":"564","DOI":"10.1002\/ana.410420406","volume":"42","author":"LA Reed","year":"1997","unstructured":"Reed, L. A. et al. Autosomal dominant dementia with widespread neurofibrillary tangles. Annu. Neurol. 42, 564\u2013 572 (1997).","journal-title":"Annu. Neurol."},{"key":"BF31508_CR20","doi-asserted-by":"publisher","first-page":"400","DOI":"10.1212\/WNL.49.2.400","volume":"49","author":"PL McGeer","year":"1997","unstructured":"McGeer, P. L., Schwab, C., McGeer, E. G., Haddock, R. L. & Steele, J. C. Familial nature and continuing morbidity of the amyotropic lateral sclerosis-parkinsonism dementia complex of Guam. Neurology 49, 400\u2013 409 (1997).","journal-title":"Neurology"},{"key":"BF31508_CR21","doi-asserted-by":"publisher","first-page":"460","DOI":"10.1016\/0166-2236(93)90078-Z","volume":"16","author":"M Goedert","year":"1993","unstructured":"Goedert, M. Tau protein and the neurofibrillary pathology of Alzheimer's disease.  Trends Neurosci. 16, 460\u2013465 (1993).","journal-title":"Trends Neurosci."},{"key":"BF31508_CR22","doi-asserted-by":"publisher","first-page":"98","DOI":"10.1038\/ng0194-98","volume":"6","author":"DM Church","year":"1994","unstructured":"Church, D. M. et al . Isolation of genes from complex sources of mammalian genomic DNA using exon amplification. Nature Genet 6, 98\u2013105 (1994).","journal-title":"Nature Genet"},{"key":"BF31508_CR23","doi-asserted-by":"publisher","first-page":"393","DOI":"10.1016\/0092-8674(88)90202-4","volume":"54","author":"LP Eperon","year":"1988","unstructured":"Eperon, L. P., Graham, I. R., Griffiths, A. D. & Eperon, I. C. Effects of RNA secondary structure on alternative splicing of pre-mRNA: is folding limited to a region behind the transcribing RNA polymerase?  Cell 54, 393\u2013401 ( 1988).","journal-title":"Cell"},{"key":"BF31508_CR24","doi-asserted-by":"publisher","first-page":"1045","DOI":"10.1126\/science.1825520","volume":"1251","author":"H-C Kuo","year":"1991","unstructured":"Kuo, H.-C., Nasim, F.-U. H. & Grabowski, P. J. Control of alternative splicing by the differential binding of U1 small nuclear ribonucleoprotein particle. Science  1251, 1045\u20131050 ( 1991).","journal-title":"Science"},{"key":"BF31508_CR25","doi-asserted-by":"publisher","first-page":"541","DOI":"10.1002\/ana.410420403","volume":"42","author":"D Dickson","year":"1997","unstructured":"Dickson, D. Neurodegenerative diseases with cytoskeletal pathology: a biochemical classification. Annu. Neurol. 42, 541\u2013 543 (1997).","journal-title":"Annu. Neurol."},{"key":"BF31508_CR26","doi-asserted-by":"publisher","first-page":"277","DOI":"10.1002\/ana.410410222","volume":"41","author":"C Conrad","year":"1997","unstructured":"Conrad, C. et al. Genetic evidence of the involvement of \u03c4 in progressive supranuclear palsy. Annu. Neurol. 41, 277 \u2013281 (1997).","journal-title":"Annu. Neurol."},{"key":"BF31508_CR27","doi-asserted-by":"publisher","first-page":"270","DOI":"10.1212\/WNL.50.1.270","volume":"50","author":"JJ Higgins","year":"1998","unstructured":"Higgins, J. J., Litvan, I., Pho, L. T., Li, W. & Nee, L. E. Progressive supranuclear palsy is in linkage disequilibrium with the \u03c4 and not the \u03b1-synuclein gene. Neurology 50, 270\u2013273 (1998).","journal-title":"Neurology"},{"key":"BF31508_CR28","doi-asserted-by":"publisher","first-page":"9373","DOI":"10.1073\/pnas.83.24.9373","volume":"83","author":"SM Freier","year":"1986","unstructured":"Freier, S. M. et al . Improved free-energy parameters for predictions of RNA duplex stability. Proc. Natl Acad. Sci. USA 83, 9373\u20139377 (1986).","journal-title":"Proc. Natl Acad. Sci. USA"}],"container-title":["Nature"],"original-title":[],"language":"en","link":[{"URL":"http:\/\/www.nature.com\/articles\/31508.pdf","content-type":"application\/pdf","content-version":"vor","intended-application":"text-mining"},{"URL":"http:\/\/www.nature.com\/articles\/31508","content-type":"text\/html","content-version":"vor","intended-application":"text-mining"},{"URL":"http:\/\/www.nature.com\/articles\/31508.pdf","content-type":"application\/pdf","content-version":"vor","intended-application":"similarity-checking"}],"deposited":{"date-parts":[[2023,5,17]],"date-time":"2023-05-17T01:20:25Z","timestamp":1684286425000},"score":1,"resource":{"primary":{"URL":"https:\/\/www.nature.com\/articles\/31508"}},"subtitle":[],"short-title":[],"issued":{"date-parts":[[1998,6]]},"references-count":28,"journal-issue":{"issue":"6686","published-print":{"date-parts":[[1998,6]]}},"alternative-id":["BF31508"],"URL":"https:\/\/doi.org\/10.1038\/31508","relation":{},"ISSN":["0028-0836","1476-4687"],"issn-type":[{"value":"0028-0836","type":"print"},{"value":"1476-4687","type":"electronic"}],"subject":[],"published":{"date-parts":[[1998,6]]}}}