{"status":"ok","message-type":"work","message-version":"1.0.0","message":{"indexed":{"date-parts":[[2026,10,13]],"date-time":"2026-10-13T19:35:44Z","timestamp":1791920144379,"version":"4.3.4"},"reference-count":42,"publisher":"Springer Science and Business Media LLC","issue":"8","license":[{"start":{"date-parts":[[2023,5,3]],"date-time":"2023-05-03T00:00:00Z","timestamp":1683072000000},"content-version":"tdm","delay-in-days":0,"URL":"https:\/\/creativecommons.org\/licenses\/by\/4.0"},{"start":{"date-parts":[[2023,5,3]],"date-time":"2023-05-03T00:00:00Z","timestamp":1683072000000},"content-version":"vor","delay-in-days":0,"URL":"https:\/\/creativecommons.org\/licenses\/by\/4.0"}],"content-domain":{"domain":["link.springer.com"],"crossmark-restriction":false},"short-container-title":["J Neurol"],"published-print":{"date-parts":[[2023,8]]},"abstract":"<jats:title>Abstract<\/jats:title><jats:sec>\n                <jats:title>Background and objectives<\/jats:title>\n                <jats:p>Primary lateral sclerosis (PLS) is a motor neuron disease characterised by loss of the upper motor neurons. Most patients present with slowly progressive spasticity of the legs, which may also spread to the arms or bulbar regions. It is challenging to distinguish between PLS, early-stage amyotrophic lateral sclerosis (ALS) and hereditary spastic paraplegia (HSP). The current diagnostic criteria advise against extensive genetic testing. This recommendation is, however, based on limited data.<\/jats:p>\n              <\/jats:sec><jats:sec>\n                <jats:title>Methods<\/jats:title>\n                <jats:p>We aim to genetically characterize a PLS cohort using whole exome sequencing (WES) for genes associated with ALS, HSP, ataxia and movement disorders (364 genes) and <jats:italic>C9orf72<\/jats:italic> repeat expansions. Patients fulfilling the definite PLS criteria by Turner et al. and with available DNA samples of sufficient quality were recruited from an on-going, population-based epidemiological study. Genetic variants were classified according to the ACMG criteria and assigned to groups based on disease association.<\/jats:p>\n              <\/jats:sec><jats:sec>\n                <jats:title>Results<\/jats:title>\n                <jats:p>WES was performed in 139 patients and the presence of repeat expansions in <jats:italic>C9orf72<\/jats:italic> was analysed separately in 129 patients. This resulted in 31 variants of which 11 were (likely) pathogenic. (Likely) pathogenic variants resulted in 3 groups based on disease association: ALS-FTD (<jats:italic>C9orf72<\/jats:italic>, <jats:italic>TBK1<\/jats:italic>), pure HSP (<jats:italic>SPAST<\/jats:italic>, <jats:italic>SPG7<\/jats:italic>), \u201cALS-HSP-CMT overlap\u201d (<jats:italic>FIG4<\/jats:italic>, <jats:italic>NEFL<\/jats:italic>, <jats:italic>SPG11<\/jats:italic>).<\/jats:p>\n              <\/jats:sec><jats:sec>\n                <jats:title>Discussion<\/jats:title>\n                <jats:p>In a cohort of 139 PLS patients, genetic analyses resulted in 31 variants (22%) of which 10 (7%) (likely) pathogenic associated with different diseases (predominantly ALS and HSP). Based on these results and the literature, we advise to consider genetic analyses in the diagnostic work-up for PLS.<\/jats:p>\n              <\/jats:sec>","DOI":"10.1007\/s00415-023-11746-7","type":"journal-article","created":{"date-parts":[[2023,5,3]],"date-time":"2023-05-03T05:01:37Z","timestamp":1683090097000},"page":"3970-3980","update-policy":"https:\/\/doi.org\/10.1007\/springer_crossmark_policy","source":"Crossref","is-referenced-by-count":23,"title":["Genetic characterization of primary lateral sclerosis"],"prefix":"10.1007","volume":"270","author":[{"ORCID":"https:\/\/orcid.org\/0000-0002-2629-2748","authenticated-orcid":false,"given":"Eva M. J.","family":"de Boer","sequence":"first","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Balint S.","family":"de Vries","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"ORCID":"https:\/\/orcid.org\/0000-0001-5485-7497","authenticated-orcid":false,"given":"Maartje","family":"Pennings","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"ORCID":"https:\/\/orcid.org\/0000-0001-6480-1892","authenticated-orcid":false,"given":"Erik-Jan","family":"Kamsteeg","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"ORCID":"https:\/\/orcid.org\/0000-0001-5572-9657","authenticated-orcid":false,"given":"Jan H.","family":"Veldink","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"ORCID":"https:\/\/orcid.org\/0000-0002-5203-9674","authenticated-orcid":false,"given":"Leonard H.","family":"van den Berg","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"ORCID":"https:\/\/orcid.org\/0000-0002-7709-5883","authenticated-orcid":false,"given":"Michael A.","family":"van Es","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]}],"member":"297","published-online":{"date-parts":[[2023,5,3]]},"reference":[{"key":"11746_CR1","doi-asserted-by":"publisher","first-page":"749","DOI":"10.1016\/j.ncl.2015.07.007","volume":"33","author":"JM Statland","year":"2015","unstructured":"Statland JM, Barohn RJ, Dimachkie MM, Floeter MK, Mitsumoto H (2015) Primary lateral sclerosis. Neurol Clin 33:749\u2013760. https:\/\/doi.org\/10.1016\/j.ncl.2015.07.007","journal-title":"Neurol Clin"},{"key":"11746_CR2","doi-asserted-by":"publisher","first-page":"2084","DOI":"10.1016\/S0140-6736(17)31287-4","volume":"390","author":"MA van Es","year":"2017","unstructured":"van Es MA, Hardiman O, Chio A, Al-Chalabi A, Pasterkamp RJ, Veldink JH et al (2017) Amyotrophic lateral sclerosis. The Lancet 390:2084\u20132098. https:\/\/doi.org\/10.1016\/S0140-6736(17)31287-4","journal-title":"The Lancet"},{"key":"11746_CR3","doi-asserted-by":"publisher","first-page":"141","DOI":"10.1136\/jnnp-2018-318788","volume":"90","author":"BS De Vries","year":"2019","unstructured":"De Vries BS, Rustemeijer LMM, Bakker LA, Schr\u00f6der CD, Veldink JH, Van Den Berg LH et al (2019) Cognitive and behavioural changes in PLS and PMA: challenging the concept of restricted phenotypes. J Neurol Neurosurg Psychiatry 90:141\u2013147. https:\/\/doi.org\/10.1136\/jnnp-2018-318788","journal-title":"J Neurol Neurosurg Psychiatry"},{"key":"11746_CR4","doi-asserted-by":"publisher","first-page":"376","DOI":"10.1080\/21678421.2019.1620284","volume":"20","author":"BS de Vries","year":"2019","unstructured":"de Vries BS, Spreij LA, Rustemeijer LMM, Bakker LA, Veldink JH, van den Berg LH et al (2019) A neuropsychological and behavioral study of PLS. Amyotroph Lateral Scler Frontotemporal Degener 20:376\u2013384. https:\/\/doi.org\/10.1080\/21678421.2019.1620284","journal-title":"Amyotroph Lateral Scler Frontotemporal Degener"},{"key":"11746_CR5","doi-asserted-by":"publisher","first-page":"133","DOI":"10.1080\/21678421.2018.1550518","volume":"20","author":"E Finegan","year":"2019","unstructured":"Finegan E, Chipika RH, Shing SLH, Hardiman O, Bede P (2019) Primary lateral sclerosis: a distinct entity or part of the ALS spectrum? Amyotroph Lateral Scler Frontotemporal Degener 20:133\u2013145. https:\/\/doi.org\/10.1080\/21678421.2018.1550518","journal-title":"Amyotroph Lateral Scler Frontotemporal Degener"},{"key":"11746_CR6","doi-asserted-by":"publisher","first-page":"495","DOI":"10.1093\/brain\/115.2.495","volume":"115","author":"CE Pringle","year":"1992","unstructured":"Pringle CE, Hudson AJ, Munoz DG, Kiernan JA, Brown WF, Ebers GC (1992) Primary lateral sclerosis clinical features, neuropathology and diagnostic criteria. Brain 115:495\u2013520","journal-title":"Brain"},{"key":"11746_CR7","doi-asserted-by":"publisher","first-page":"647","DOI":"10.1212\/01.wnl.0000200962.94777.71","volume":"66","author":"PH Gordon","year":"2006","unstructured":"Gordon PH, Cheng B, Katz IB, Pinto M, Hays AP, Mitsumoto H et al (2006) The natural history of primary lateral sclerosis. Neurology 66:647\u2013653. https:\/\/doi.org\/10.1212\/01.wnl.0000200962.94777.71","journal-title":"Neurology"},{"key":"11746_CR8","doi-asserted-by":"publisher","first-page":"373","DOI":"10.1136\/jnnp-2019-322541","volume":"91","author":"MR Turner","year":"2020","unstructured":"Turner MR, Barohn RJ, Corcia P, Fink JK, Harms MB, Kiernan MC et al (2020) Primary lateral sclerosis: consensus diagnostic criteria. J Neurol Neurosurg Psychiatry 91:373\u2013377. https:\/\/doi.org\/10.1136\/jnnp-2019-322541","journal-title":"J Neurol Neurosurg Psychiatry"},{"key":"11746_CR9","doi-asserted-by":"publisher","first-page":"1","DOI":"10.3389\/fnagi.2022.804385","volume":"14","author":"P Krzosek","year":"2022","unstructured":"Krzosek P, Madetko N, Migda A, Migda B, Jagu\u015b D, Alster P (2022) Differential diagnosis of rare subtypes of progressive supranuclear palsy and PSP-like syndromes\u2014infrequent manifestations of the most common form of atypical parkinsonism. Front Aging Neurosci 14:1\u20139. https:\/\/doi.org\/10.3389\/fnagi.2022.804385","journal-title":"Front Aging Neurosci"},{"key":"11746_CR10","doi-asserted-by":"publisher","first-page":"525","DOI":"10.1007\/s12311-016-0803-z","volume":"16","author":"PVS de Souza","year":"2017","unstructured":"de Souza PVS, de Rezende Pinto WBV, de Rezende Batistella GN, Bortholin T, Oliveira ASB (2017) Hereditary spastic paraplegia: clinical and genetic hallmarks. Cerebellum 16:525\u2013551. https:\/\/doi.org\/10.1007\/s12311-016-0803-z","journal-title":"Cerebellum"},{"key":"11746_CR11","doi-asserted-by":"publisher","first-page":"2065","DOI":"10.1007\/s00415-019-09633-1","volume":"268","author":"M Erfanian Omidvar","year":"2021","unstructured":"Erfanian Omidvar M, Torkamandi S, Rezaei S, Alipoor B, Omrani MD, Darvish H et al (2021) Genotype\u2013phenotype associations in hereditary spastic paraplegia: a systematic review and meta-analysis on 13,570 patients. J Neurol 268:2065\u20132082. https:\/\/doi.org\/10.1007\/s00415-019-09633-1","journal-title":"J Neurol"},{"key":"11746_CR12","doi-asserted-by":"publisher","first-page":"150","DOI":"10.1136\/jnnp.69.2.150","volume":"69","author":"CJ McDermott","year":"2000","unstructured":"McDermott CJ, White K, Bushby K, Shaw PJ (2000) Hereditary spastic paraparesis: a review of new developments. J Neurol Neurosurg Psychiatry 69:150\u2013160. https:\/\/doi.org\/10.1136\/jnnp.69.2.150","journal-title":"J Neurol Neurosurg Psychiatry"},{"key":"11746_CR13","doi-asserted-by":"publisher","first-page":"40","DOI":"10.1038\/s41431-019-0497-z","volume":"28","author":"M Pennings","year":"2020","unstructured":"Pennings M, Schouten MI, van Gaalen J, Meijer RPP, de Bot ST, Kriek M et al (2020) KIF1A variants are a frequent cause of autosomal dominant hereditary spastic paraplegia. Eur J Hum Genet 28:40\u201349. https:\/\/doi.org\/10.1038\/s41431-019-0497-z","journal-title":"Eur J Hum Genet"},{"key":"11746_CR14","doi-asserted-by":"publisher","first-page":"28","DOI":"10.1186\/s41065-019-0104-x","volume":"156","author":"N Liu","year":"2019","unstructured":"Liu N, Chen J, Xu C, Shi T, Li J (2019) Hereditary spastic paraplegia associated with a rare IFIH1 mutation: a case report and literature review. Hereditas 156:28. https:\/\/doi.org\/10.1186\/s41065-019-0104-x","journal-title":"Hereditas"},{"key":"11746_CR15","doi-asserted-by":"publisher","first-page":"e66","DOI":"10.1097\/PHM.0000000000001547","volume":"100","author":"C Rovito","year":"2021","unstructured":"Rovito C, Paganoni S, Babu S, Tenforde AS (2021) Improved function in a runner with hereditary spastic paraparesis with use of extracorporeal shockwave therapy: personal clinical experience. Am J Phys Med Rehabil 100:e66\u2013e68. https:\/\/doi.org\/10.1097\/PHM.0000000000001547","journal-title":"Am J Phys Med Rehabil"},{"key":"11746_CR16","doi-asserted-by":"publisher","first-page":"1029","DOI":"10.1093\/brain\/awab386","volume":"145","author":"JL Mereaux","year":"2022","unstructured":"Mereaux JL, Banneau G, Papin M, Coarelli G, Valter R, Raymond L et al (2022) Clinical and genetic spectra of 1550 index patients with hereditary spastic paraplegia. Brain 145:1029\u20131037. https:\/\/doi.org\/10.1093\/brain\/awab386","journal-title":"Brain"},{"key":"11746_CR17","doi-asserted-by":"publisher","first-page":"1165","DOI":"10.1136\/jnnp.2011.244939","volume":"82","author":"MHB Huisman","year":"2011","unstructured":"Huisman MHB, De Jong SW, Van Doormaal PTC, Weinreich SS, Schelhaas HJ, Van Der Kooi AJ et al (2011) Population based epidemiology of amyotrophic lateral sclerosis using capture-recapture methodology. J Neurol Neurosurg Psychiatry 82:1165\u20131170. https:\/\/doi.org\/10.1136\/jnnp.2011.244939","journal-title":"J Neurol Neurosurg Psychiatry"},{"key":"11746_CR18","doi-asserted-by":"publisher","first-page":"9","DOI":"10.3109\/21678421.2013.805784","volume":"15","author":"S Abrahams","year":"2014","unstructured":"Abrahams S, Newton J, Niven E, Foley J, Bak TH (2014) Screening for cognition and behaviour changes in ALS. Amyotroph Lateral Scler Frontotemporal Degener 15:9\u201314. https:\/\/doi.org\/10.3109\/21678421.2013.805784","journal-title":"Amyotroph Lateral Scler Frontotemporal Degener"},{"key":"11746_CR19","doi-asserted-by":"publisher","first-page":"1621","DOI":"10.1212\/WNL.55.11.1621","volume":"55","author":"B Dubois","year":"2000","unstructured":"Dubois B, Slachevsky A, Litvan I, Pillon B (2000) The FAB: a frontal assessment battery at bedside. Neurology 55:1621. https:\/\/doi.org\/10.1212\/WNL.55.11.1621","journal-title":"Neurology"},{"key":"11746_CR20","doi-asserted-by":"crossref","unstructured":"Raaphorst J, Beeldman E, Schmand B, Berkhout J, Linssen WHJP, Van Den Berg LH et al. (2012) The ALS-FTD-Q A new screening tool for behavioral disturbances in ALS","DOI":"10.1212\/WNL.0b013e31826c1aa1"},{"key":"11746_CR21","doi-asserted-by":"publisher","first-page":"344","DOI":"10.1016\/j.jclinepi.2007.11.008","volume":"61","author":"E von Elm","year":"2008","unstructured":"von Elm E, Altman DG, Egger M, Pocock SJ, G\u00f8tzsche PC, Vandenbroucke JP (2008) The Strengthening the Reporting of Observational Studies in Epidemiology (STROBE) statement: guidelines for reporting observational studies. J Clin Epidemiol 61:344\u2013349. https:\/\/doi.org\/10.1016\/j.jclinepi.2007.11.008","journal-title":"J Clin Epidemiol"},{"key":"11746_CR22","doi-asserted-by":"publisher","first-page":"1569","DOI":"10.1038\/s41436-021-01174-1","volume":"23","author":"BPGH van der Sanden","year":"2021","unstructured":"van der Sanden BPGH, Corominas J, de Groot M, Pennings M, Meijer RPP, Verbeek N et al (2021) Systematic analysis of short tandem repeats in 38,095 exomes provides an additional diagnostic yield. Genet Med 23:1569\u20131573. https:\/\/doi.org\/10.1038\/s41436-021-01174-1","journal-title":"Genet Med"},{"key":"11746_CR23","doi-asserted-by":"publisher","first-page":"1721","DOI":"10.1002\/humu.22450","volume":"34","author":"K Neveling","year":"2013","unstructured":"Neveling K, Feenstra I, Gilissen C, Hoefsloot LH, Kamsteeg EJ, Mensenkamp AR et al (2013) A Post-hoc comparison of the utility of sanger sequencing and exome sequencing for the diagnosis of heterogeneous diseases. Hum Mutat 34:1721\u20131726. https:\/\/doi.org\/10.1002\/humu.22450","journal-title":"Hum Mutat"},{"key":"11746_CR24","doi-asserted-by":"publisher","first-page":"1188","DOI":"10.1038\/ejhg.2010.10","volume":"18","author":"J Sequeiros","year":"2010","unstructured":"Sequeiros J, Seneca S, Martindale J (2010) Consensus and controversies in best practices for molecular genetic testing of spinocerebellar ataxias. Eur J Hum Genet 18:1188\u20131195. https:\/\/doi.org\/10.1038\/ejhg.2010.10","journal-title":"Eur J Hum Genet"},{"key":"11746_CR25","doi-asserted-by":"publisher","first-page":"878","DOI":"10.1212\/WNL.0b013e3182661d14","volume":"79","author":"W Van Rheenen","year":"2012","unstructured":"Van Rheenen W, Van Blitterswijk M, Huisman MHB, Vlam L, Van Doormaal PTC, Seelen M et al (2012) Hexanucleotide repeat expansions in C9ORF72 in the spectrum of motor neuron diseases. Neurology 79:878\u2013882. https:\/\/doi.org\/10.1212\/WNL.0b013e3182661d14","journal-title":"Neurology"},{"key":"11746_CR26","doi-asserted-by":"publisher","first-page":"117","DOI":"10.1016\/j.gde.2017.02.008","volume":"44","author":"S Van Mossevelde","year":"2017","unstructured":"Van Mossevelde S, van der Zee J, Cruts M, Van Broeckhoven C (2017) Relationship between C9orf72 repeat size and clinical phenotype. Curr Opin Genet Dev 44:117\u2013124. https:\/\/doi.org\/10.1016\/j.gde.2017.02.008","journal-title":"Curr Opin Genet Dev"},{"key":"11746_CR27","doi-asserted-by":"publisher","first-page":"1203","DOI":"10.1038\/ejhg.2012.108","volume":"20","author":"EJ Kamsteeg","year":"2012","unstructured":"Kamsteeg EJ, Kress W, Catalli C, Hertz JM, Witsch-Baumgartner M, Buckley MF et al (2012) Best practice guidelines and recommendations on the molecular diagnosis of myotonic dystrophy types 1 and 2. Eur J Hum Genet 20:1203\u20131208. https:\/\/doi.org\/10.1038\/ejhg.2012.108","journal-title":"Eur J Hum Genet"},{"key":"11746_CR28","doi-asserted-by":"publisher","first-page":"405","DOI":"10.1038\/gim.2015.30","volume":"17","author":"S Richards","year":"2015","unstructured":"Richards S, Aziz N, Bale S, Bick D, Das S, Gastier-Foster J et al (2015) Standards and guidelines for the interpretation of sequence variants: a joint consensus recommendation of the American College of Medical Genetics and Genomics and the Association for Molecular Pathology. Genetic Med 17:405\u2013424. https:\/\/doi.org\/10.1038\/gim.2015.30","journal-title":"Genetic Med"},{"key":"11746_CR29","unstructured":"Bethesda (MD): National Library of Medicine (US) NC for BI. Gene [Internet] n.d. https:\/\/www.ncbi.nlm.nih.gov\/gene. Accessed 25 Aug 2022"},{"key":"11746_CR30","doi-asserted-by":"publisher","first-page":"153","DOI":"10.1080\/21678421.2016.1267768.Amyotrophic","volume":"18","author":"MJ Strong","year":"2017","unstructured":"Strong MJ, Abrahams S, Goldstein LH, Woolley S, Mclaughlin P, Snowden J et al (2017) disorder (ALS-FTSD): revised diagnostic criteria. Amyotroph Lateral Scler Frontotemporal Degener 18:153\u2013174. https:\/\/doi.org\/10.1080\/21678421.2016.1267768.Amyotrophic","journal-title":"Amyotroph Lateral Scler Frontotemporal Degener"},{"key":"11746_CR31","doi-asserted-by":"publisher","first-page":"348","DOI":"10.1002\/(SICI)1098-1004(200004)15:4<348::AID-HUMU7>3.0.CO;2-N","volume":"15","author":"MBR Lachtermacher","year":"2000","unstructured":"Lachtermacher MBR, Seu\u00e1nez HN, Moser AB, Moser HW, Smith KD (2000) Determination of 30 X-linked adrenoleukodystrophy mutations, including 15 not previously described. Hum Mutat 15:348\u2013353. https:\/\/doi.org\/10.1002\/(SICI)1098-1004(200004)15:4%3c348::AID-HUMU7%3e3.0.CO;2-N","journal-title":"Hum Mutat"},{"key":"11746_CR32","doi-asserted-by":"publisher","first-page":"28","DOI":"10.1080\/21678421.2020.1837177","volume":"21","author":"V Silani","year":"2020","unstructured":"Silani V, Corcia P, Harms MB, Rouleau G, Siddique T, Ticozzi N (2020) Genetics of primary lateral sclerosis. Amyotroph Lateral Scler Frontotemporal Degener 21:28\u201334. https:\/\/doi.org\/10.1080\/21678421.2020.1837177","journal-title":"Amyotroph Lateral Scler Frontotemporal Degener"},{"key":"11746_CR33","doi-asserted-by":"publisher","DOI":"10.1212\/01.NXG.0000464294.88607.dd","author":"H Mitsumoto","year":"2015","unstructured":"Mitsumoto H, Nagy PL, Gennings C, Murphy J, Andrews H, Goetz R et al (2015) Phenotypic and molecular analyses of primary lateral sclerosis. Neurol Genet. https:\/\/doi.org\/10.1212\/01.NXG.0000464294.88607.dd","journal-title":"Neurol Genet"},{"key":"11746_CR34","doi-asserted-by":"publisher","first-page":"97","DOI":"10.1002\/cm.21676","volume":"78","author":"EJ Stone","year":"2021","unstructured":"Stone EJ, Kolb SJ, Brown A (2021) A review and analysis of the clinical literature on Charcot\u2013Marie\u2013Tooth disease caused by mutations in neurofilament protein L. Cytoskeleton 78:97\u2013110. https:\/\/doi.org\/10.1002\/cm.21676","journal-title":"Cytoskeleton"},{"key":"11746_CR35","doi-asserted-by":"publisher","first-page":"98","DOI":"10.1016\/j.parkreldis.2020.09.016","volume":"80","author":"K Mul","year":"2020","unstructured":"Mul K, Schouten MI, van der Looij E, Dooijes D, Hennekam FAM, Notermans NC et al (2020) A hereditary spastic paraplegia predominant phenotype caused by variants in the NEFL gene. Parkinsonism Relat Disord 80:98\u2013101. https:\/\/doi.org\/10.1016\/j.parkreldis.2020.09.016","journal-title":"Parkinsonism Relat Disord"},{"key":"11746_CR36","doi-asserted-by":"publisher","first-page":"293","DOI":"10.1080\/146608200300079536","volume":"1","author":"BR Brooks","year":"2000","unstructured":"Brooks BR, Miller RG, Swash M, Munsat TL (2000) El Escorial revisited: Revised criteria for the diagnosis of amyotrophic lateral sclerosis. Amyotroph Lateral Scler 1:293\u2013299. https:\/\/doi.org\/10.1080\/146608200300079536","journal-title":"Amyotroph Lateral Scler"},{"key":"11746_CR37","doi-asserted-by":"publisher","first-page":"199","DOI":"10.1055\/s-2001-15265","volume":"21","author":"JK Fink","year":"2001","unstructured":"Fink JK (2001) Progressive spastic paraparesis: hereditary spastic paraplegia and its relation to primary and amyotrophic lateral sclerosis. Semin Neurol 21:199\u2013207. https:\/\/doi.org\/10.1055\/s-2001-15265","journal-title":"Semin Neurol"},{"key":"11746_CR38","doi-asserted-by":"publisher","first-page":"571","DOI":"10.1007\/s00415-004-0366-7","volume":"251","author":"S Klebe","year":"2004","unstructured":"Klebe S, Stolze H, Kopper F, Lorenz D, Wenzelburger R, Volkmann J et al (2004) Gait analysis of sporadic and hereditary spastic paraplegia. J Neurol 251:571\u2013578. https:\/\/doi.org\/10.1007\/s00415-004-0366-7","journal-title":"J Neurol"},{"key":"11746_CR39","doi-asserted-by":"publisher","first-page":"1","DOI":"10.3389\/fneur.2022.872927","volume":"13","author":"Y Shi","year":"2022","unstructured":"Shi Y, Wang A, Chen B, Wang X, Niu S, Li W et al (2022) Clinical features and genetic spectrum of patients with clinically suspected hereditary progressive spastic paraplegia. Front Neurol 13:1\u201313. https:\/\/doi.org\/10.3389\/fneur.2022.872927","journal-title":"Front Neurol"},{"key":"11746_CR40","doi-asserted-by":"publisher","first-page":"509","DOI":"10.1001\/archneurol.2009.19","volume":"66","author":"F Brugman","year":"2009","unstructured":"Brugman F, Veldink JH, Franssen H, De Visser M, Vianney-de-Jong JMB, Faber CG et al (2009) Differentiation of hereditary spastic paraparesis from primary lateral sclerosis in sporadic adult-onset upper motor neuron syndromes. Arch Neurol 66:509\u2013514. https:\/\/doi.org\/10.1001\/archneurol.2009.19","journal-title":"Arch Neurol"},{"key":"11746_CR41","doi-asserted-by":"publisher","first-page":"534","DOI":"10.1080\/21678421.2017.1354996","volume":"18","author":"BS de Vries","year":"2017","unstructured":"de Vries BS, Rustemeijer LMM, van der Kooi AJ, Raaphorst J, Schr\u00f6der CD, Nijboer TCW et al (2017) A case series of PLS patients with frontotemporal dementia and overview of the literature. Amyotroph Lateral Scler Frontotemporal Degener 18:534\u2013548. https:\/\/doi.org\/10.1080\/21678421.2017.1354996","journal-title":"Amyotroph Lateral Scler Frontotemporal Degener"},{"key":"11746_CR42","doi-asserted-by":"publisher","first-page":"52","DOI":"10.1080\/21678421.2020.1790607","volume":"21","author":"IRA Mackenzie","year":"2020","unstructured":"Mackenzie IRA, Briemberg H (2020) TDP-43 pathology in primary lateral sclerosis. Amyotroph Lateral Scler Frontotemporal Degener 21:52\u201358. https:\/\/doi.org\/10.1080\/21678421.2020.1790607","journal-title":"Amyotroph Lateral Scler Frontotemporal Degener"}],"container-title":["Journal of Neurology"],"original-title":[],"language":"en","link":[{"URL":"https:\/\/link.springer.com\/content\/pdf\/10.1007\/s00415-023-11746-7.pdf","content-type":"application\/pdf","content-version":"vor","intended-application":"text-mining"},{"URL":"https:\/\/link.springer.com\/article\/10.1007\/s00415-023-11746-7\/fulltext.html","content-type":"text\/html","content-version":"vor","intended-application":"text-mining"},{"URL":"https:\/\/link.springer.com\/content\/pdf\/10.1007\/s00415-023-11746-7.pdf","content-type":"application\/pdf","content-version":"vor","intended-application":"similarity-checking"}],"deposited":{"date-parts":[[2023,7,13]],"date-time":"2023-07-13T13:06:09Z","timestamp":1689253569000},"score":1,"resource":{"primary":{"URL":"https:\/\/link.springer.com\/10.1007\/s00415-023-11746-7"}},"subtitle":[],"short-title":[],"issued":{"date-parts":[[2023,5,3]]},"references-count":42,"journal-issue":{"issue":"8","published-print":{"date-parts":[[2023,8]]}},"alternative-id":["11746"],"URL":"https:\/\/doi.org\/10.1007\/s00415-023-11746-7","relation":{},"ISSN":["0340-5354","1432-1459"],"issn-type":[{"value":"0340-5354","type":"print"},{"value":"1432-1459","type":"electronic"}],"subject":[],"published":{"date-parts":[[2023,5,3]]},"assertion":[{"value":"8 February 2023","order":1,"name":"received","label":"Received","group":{"name":"ArticleHistory","label":"Article History"}},{"value":"5 April 2023","order":2,"name":"revised","label":"Revised","group":{"name":"ArticleHistory","label":"Article History"}},{"value":"25 April 2023","order":3,"name":"accepted","label":"Accepted","group":{"name":"ArticleHistory","label":"Article History"}},{"value":"3 May 2023","order":4,"name":"first_online","label":"First Online","group":{"name":"ArticleHistory","label":"Article History"}},{"order":1,"name":"Ethics","group":{"name":"EthicsHeading","label":"Declarations"}},{"value":"Jan Veldink reports to have sponsored research agreements with Biogen and Astra Zeneca. Leonard van den Berg declares fees to his institution from Biogen, Wave, Amylyx, Ferrer, and Cytokinetics for being on a scientific advisory board; fees to his institution from Amylyx for a lecture; an unrestricted educational grant from Takeda, and is the Chair of ENCALS and TRICALS. Michael van Es has consulted for Biogen, and has received travel grants from Shire (formerly Baxalta), performs work as a medical monitor for an on-going trial from Ferrer (NCT05178810).","order":2,"name":"Ethics","group":{"name":"EthicsHeading","label":"Conflicts of interest"}}]}}