{"status":"ok","message-type":"work","message-version":"1.0.0","message":{"indexed":{"date-parts":[[2026,9,24]],"date-time":"2026-09-24T23:12:45Z","timestamp":1790291565569,"version":"4.1.0"},"reference-count":19,"publisher":"Wiley","issue":"8","license":[{"start":{"date-parts":[[2021,6,23]],"date-time":"2021-06-23T00:00:00Z","timestamp":1624406400000},"content-version":"vor","delay-in-days":0,"URL":"http:\/\/onlinelibrary.wiley.com\/termsAndConditions#vor"}],"content-domain":{"domain":["onlinelibrary.wiley.com"],"crossmark-restriction":true},"short-container-title":["Euro J of Neurology"],"published-print":{"date-parts":[[2021,8]]},"abstract":"<jats:title>Abstract<\/jats:title><jats:sec><jats:title>Background and purpose<\/jats:title><jats:p>Primary lateral sclerosis (PLS) is a motor neuron disorder characterized by a pure upper motor neuron degeneration in the bulbar and spinal regions. The key difference with amyotrophic lateral sclerosis (ALS) is the lower motor neuron system integrity. Despite important literature on this disease, the pathophysiology of PLS remains unknown, and the link with ALS still balances between a continuum and a separate entity from ALS.<\/jats:p><\/jats:sec><jats:sec><jats:title>Methods<\/jats:title><jats:p>We report nine families in which both PLS and ALS cases occurred, in general among first\u2010degree relatives.<\/jats:p><\/jats:sec><jats:sec><jats:title>Results<\/jats:title><jats:p>The patients with PLS and ALS had a typical disease presentation. Genetic studies revealed mutations in <jats:italic>SQSMT1, TBK1<\/jats:italic>, and <jats:italic>TREM2<\/jats:italic> genes in two PLS patients and one ALS patient.<\/jats:p><\/jats:sec><jats:sec><jats:title>Conclusions<\/jats:title><jats:p>These results strongly support a phenotypic continuum between PLS and ALS.<\/jats:p><\/jats:sec>","DOI":"10.1111\/ene.14960","type":"journal-article","created":{"date-parts":[[2021,6,10]],"date-time":"2021-06-10T19:25:29Z","timestamp":1623353129000},"page":"2780-2783","update-policy":"https:\/\/doi.org\/10.1002\/crossmark_policy","source":"Crossref","is-referenced-by-count":17,"title":["Familial clustering of primary lateral sclerosis and amyotrophic lateral sclerosis: Supplementary evidence for a continuum"],"prefix":"10.1111","volume":"28","author":[{"ORCID":"https:\/\/orcid.org\/0000-0002-1625-8845","authenticated-orcid":false,"given":"Philippe","family":"Corcia","sequence":"first","affiliation":[{"name":"ALS Center CHU Bretonneau Tours Tours France"},{"name":"UMR 1253 iBrain, Universit\u00e9 de Tours, Inserm Tours France"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Christian","family":"Lunetta","sequence":"additional","affiliation":[{"name":"NEMO Clinical Center Serena Onlus Foundation Milan Italy"},{"name":"NEMO Lab Milan Italy"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Philippe","family":"Couratier","sequence":"additional","affiliation":[{"name":"ALS Center CHU Dupuyten Limoges France"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Patrick","family":"Vourc'h","sequence":"additional","affiliation":[{"name":"UMR 1253 iBrain, Universit\u00e9 de Tours, Inserm Tours France"},{"name":"Department of Biochemistry, Molecular Biology CHU Tours Tours France"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"ORCID":"https:\/\/orcid.org\/0000-0003-2111-4579","authenticated-orcid":false,"given":"Marta","family":"Gromicho","sequence":"additional","affiliation":[{"name":"Faculty of Medicine Instituto de Fisiologia Instituto de Medicina Molecular Universidade de Lisboa Lisbon Portugal"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Claude","family":"Desnuelle","sequence":"additional","affiliation":[{"name":"ALS Center CHU Nice H\u00f4pital Pasteur 2 Nice France"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Marie\u2010H\u00e9l\u00e8ne","family":"Soriani","sequence":"additional","affiliation":[{"name":"ALS Center CHU Nice H\u00f4pital Pasteur 2 Nice France"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Susana","family":"Pinto","sequence":"additional","affiliation":[{"name":"Faculty of Medicine Instituto de Fisiologia Instituto de Medicina Molecular Universidade de Lisboa Lisbon Portugal"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"ORCID":"https:\/\/orcid.org\/0000-0001-7556-0158","authenticated-orcid":false,"given":"Mamede","family":"de Carvalho","sequence":"additional","affiliation":[{"name":"Faculty of Medicine Instituto de Fisiologia Instituto de Medicina Molecular Universidade de Lisboa Lisbon Portugal"},{"name":"Department of Neurosciences and Mental Health Hospital de Santa Maria\u2013Centro Hospitalar Universit\u00e1rio Lisboa Norte Lisbon Portugal"}],"role":[{"vocabulary":"crossref","role":"author"}]}],"member":"311","published-online":{"date-parts":[[2021,6,23]]},"reference":[{"key":"e_1_2_8_2_1","doi-asserted-by":"publisher","DOI":"10.1136\/jnnp-2019-322541"},{"key":"e_1_2_8_3_1","doi-asserted-by":"publisher","DOI":"10.1080\/21678421.2020.1837174"},{"key":"e_1_2_8_4_1","doi-asserted-by":"publisher","DOI":"10.3109\/17482968.2012.719237"},{"key":"e_1_2_8_5_1","doi-asserted-by":"publisher","DOI":"10.1093\/brain\/124.10.1989"},{"key":"e_1_2_8_6_1","doi-asserted-by":"publisher","DOI":"10.1093\/brain\/115.2.495"},{"key":"e_1_2_8_7_1","doi-asserted-by":"publisher","DOI":"10.1212\/WNL.42.8.1488"},{"key":"e_1_2_8_8_1","doi-asserted-by":"publisher","DOI":"10.1212\/01.WNL.0000162033.47893.F7"},{"key":"e_1_2_8_9_1","doi-asserted-by":"publisher","DOI":"10.3109\/17482960802483038"},{"issue":"1","key":"e_1_2_8_10_1","first-page":"S295","article-title":"Heterogeneity in familial motor neuron disease","volume":"258","author":"Antunes A","year":"2011","journal-title":"J Neurol"},{"key":"e_1_2_8_11_1","doi-asserted-by":"publisher","DOI":"10.1016\/j.jns.2019.06.029"},{"key":"e_1_2_8_12_1","doi-asserted-by":"publisher","DOI":"10.1080\/21678421.2019.1632347"},{"key":"e_1_2_8_13_1","doi-asserted-by":"publisher","DOI":"10.1007\/s00415-019-09235-x"},{"key":"e_1_2_8_14_1","doi-asserted-by":"publisher","DOI":"10.1080\/21678421.2018.1440406"},{"key":"e_1_2_8_15_1","doi-asserted-by":"publisher","DOI":"10.1080\/21678421.2020.1790607"},{"key":"e_1_2_8_16_1","doi-asserted-by":"publisher","DOI":"10.1038\/gim.2015.30"},{"key":"e_1_2_8_17_1","doi-asserted-by":"publisher","DOI":"10.1136\/practneurol-2019-002300"},{"key":"e_1_2_8_18_1","doi-asserted-by":"publisher","DOI":"10.1038\/nrdp.2017.71"},{"key":"e_1_2_8_19_1","doi-asserted-by":"publisher","DOI":"10.1212\/01.NXG.0000464294.88607.dd"},{"key":"e_1_2_8_20_1","doi-asserted-by":"publisher","DOI":"10.1080\/21678421.2020.1837177"}],"container-title":["European Journal of Neurology"],"original-title":[],"language":"en","link":[{"URL":"https:\/\/onlinelibrary.wiley.com\/doi\/pdf\/10.1111\/ene.14960","content-type":"application\/pdf","content-version":"vor","intended-application":"text-mining"},{"URL":"https:\/\/onlinelibrary.wiley.com\/doi\/full-xml\/10.1111\/ene.14960","content-type":"application\/xml","content-version":"vor","intended-application":"text-mining"},{"URL":"https:\/\/onlinelibrary.wiley.com\/doi\/pdf\/10.1111\/ene.14960","content-type":"unspecified","content-version":"vor","intended-application":"similarity-checking"}],"deposited":{"date-parts":[[2023,8,25]],"date-time":"2023-08-25T15:41:29Z","timestamp":1692978089000},"score":1,"resource":{"primary":{"URL":"https:\/\/onlinelibrary.wiley.com\/doi\/10.1111\/ene.14960"}},"subtitle":[],"short-title":[],"issued":{"date-parts":[[2021,6,23]]},"references-count":19,"journal-issue":{"issue":"8","published-print":{"date-parts":[[2021,8]]}},"alternative-id":["10.1111\/ene.14960"],"URL":"https:\/\/doi.org\/10.1111\/ene.14960","archive":["Portico"],"relation":{},"ISSN":["1351-5101","1468-1331"],"issn-type":[{"value":"1351-5101","type":"print"},{"value":"1468-1331","type":"electronic"}],"subject":[],"published":{"date-parts":[[2021,6,23]]},"assertion":[{"value":"2021-04-19","order":0,"name":"received","label":"Received","group":{"name":"publication_history","label":"Publication History"}},{"value":"2021-05-27","order":1,"name":"accepted","label":"Accepted","group":{"name":"publication_history","label":"Publication History"}},{"value":"2021-06-23","order":2,"name":"published","label":"Published","group":{"name":"publication_history","label":"Publication History"}}]}}