{"status":"ok","message-type":"work","message-version":"1.0.0","message":{"indexed":{"date-parts":[[2026,8,1]],"date-time":"2026-08-01T01:50:08Z","timestamp":1785549008152,"version":"3.56.0"},"reference-count":53,"publisher":"Springer Science and Business Media LLC","issue":"10","license":[{"start":{"date-parts":[[2021,3,26]],"date-time":"2021-03-26T00:00:00Z","timestamp":1616716800000},"content-version":"tdm","delay-in-days":0,"URL":"https:\/\/creativecommons.org\/licenses\/by\/4.0"},{"start":{"date-parts":[[2021,3,26]],"date-time":"2021-03-26T00:00:00Z","timestamp":1616716800000},"content-version":"vor","delay-in-days":0,"URL":"https:\/\/creativecommons.org\/licenses\/by\/4.0"}],"funder":[{"name":"Alma Mater Studiorum - Universit\u00e0 di Bologna"}],"content-domain":{"domain":["link.springer.com"],"crossmark-restriction":false},"short-container-title":["J Neurol"],"published-print":{"date-parts":[[2021,10]]},"abstract":"<jats:title>Abstract<\/jats:title><jats:sec>\n                <jats:title>Background<\/jats:title>\n                <jats:p>5\u201310% of amyotrophic lateral sclerosis (ALS) patients presented a positive family history (fALS). More than 30 genes have been identified in association with ALS\/frontotemporal dementia (FTD) spectrum, with four major genes accounting for 60\u201370% of fALS. In this paper, we aimed to assess the contribution to the pathogenesis of major and rare ALS\/FTD genes in ALS patients.<\/jats:p>\n              <\/jats:sec><jats:sec>\n                <jats:title>Methods<\/jats:title>\n                <jats:p>We analyzed ALS and ALS\/FTD associated genes by direct sequencing or next-generation sequencing multigene panels in ALS patients.<\/jats:p>\n              <\/jats:sec><jats:sec>\n                <jats:title>Results<\/jats:title>\n                <jats:p>Genetic abnormalities in ALS major genes included repeated expansions of hexanucleotide in <jats:italic>C9orf72<\/jats:italic> gene (7.3%), mutations in <jats:italic>SOD1<\/jats:italic> (4.9%), <jats:italic>FUS<\/jats:italic> (2.1%), and <jats:italic>TARDBP<\/jats:italic> (2.4%), whereas variants in rare ALS\/FTD genes affected 15.5% of subjects overall,  most frequently involving <jats:italic>SQSTM1<\/jats:italic> (3.4%), and <jats:italic>CHMP2B<\/jats:italic> (1.9%). We found clustering of variants in ALS major genes in patients with a family history for \u201cpure\u201d ALS, while ALS\/FTD related genes mainly occurred in patients with a family history for other neurodegenerative diseases (dementia and\/or parkinsonism).<\/jats:p>\n              <\/jats:sec><jats:sec>\n                <jats:title>Conclusions<\/jats:title>\n                <jats:p>Our data support the presence of two different genetic components underlying ALS pathogenesis, related to the presence of a family history for ALS or other neurodegenerative diseases.  Thus, family history may help in optimizing the genetic screening protocol to be applied.<\/jats:p>\n              <\/jats:sec>","DOI":"10.1007\/s00415-021-10521-w","type":"journal-article","created":{"date-parts":[[2021,3,26]],"date-time":"2021-03-26T11:02:51Z","timestamp":1616756571000},"page":"3766-3776","update-policy":"https:\/\/doi.org\/10.1007\/springer_crossmark_policy","source":"Crossref","is-referenced-by-count":21,"title":["Targeted sequencing panels in Italian ALS patients support different etiologies in the ALS\/FTD continuum"],"prefix":"10.1007","volume":"268","author":[{"given":"Anna","family":"Bartoletti-Stella","sequence":"first","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Veria","family":"Vacchiano","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Silvia","family":"De Pasqua","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Giacomo","family":"Mengozzi","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Dario","family":"De Biase","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Ilaria","family":"Bartolomei","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Patrizia","family":"Avoni","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Giovanni","family":"Rizzo","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Piero","family":"Parchi","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Vincenzo","family":"Donadio","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Adriano","family":"Chi\u00f2","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Annalisa","family":"Pession","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Federico","family":"Oppi","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Fabrizio","family":"Salvi","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Rocco","family":"Liguori","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Sabina","family":"Capellari","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"name":"BoReALS","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]}],"member":"297","published-online":{"date-parts":[[2021,3,26]]},"reference":[{"issue":"2","key":"10521_CR1","doi-asserted-by":"publisher","first-page":"118","DOI":"10.1159\/000351153","volume":"41","author":"A Chi\u00f2","year":"2013","unstructured":"Chi\u00f2 A, Logroscino G, Traynor BJ et al (2013) Global epidemiology of amyotrophic lateral sclerosis: a systematic review of the published literature. 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