{"status":"ok","message-type":"work","message-version":"1.0.0","message":{"indexed":{"date-parts":[[2026,10,9]],"date-time":"2026-10-09T11:10:54Z","timestamp":1791544254801,"version":"4.3.4"},"reference-count":20,"publisher":"S. Karger AG","issue":"5-6","license":[{"start":{"date-parts":[[2018,1,1]],"date-time":"2018-01-01T00:00:00Z","timestamp":1514764800000},"content-version":"vor","delay-in-days":0,"URL":"https:\/\/www.karger.com\/Services\/SiteLicenses"},{"start":{"date-parts":[[2018,1,1]],"date-time":"2018-01-01T00:00:00Z","timestamp":1514764800000},"content-version":"tdm","delay-in-days":0,"URL":"https:\/\/www.karger.com\/Services\/SiteLicenses"}],"content-domain":{"domain":[],"crossmark-restriction":false},"short-container-title":["Neurodegener Dis"],"published-print":{"date-parts":[[2018]]},"abstract":"The aim of our study was to evaluate the role of mutations in the <i>MAPT<\/i> gene in patients with pure amyotrophic lateral sclerosis (ALS). A cohort of 120 ALS patients, both sporadic and familial, without cognitive impairment was analyzed by next-generation sequencing with a multiple-gene panel comprising 23 genes, including <i>MAPT<\/i>, known to be associated with ALS and frontotemporal dementia. The presence of the <i>C9orf72<\/i> expansion was also investigated. Twelve patients had mutations in the <i>SOD1<\/i>,<i> TARDBP<\/i>,<i> MATR3<\/i>, and <i>FUS<\/i> genes, while 10 patients carried the <i>C9orf72<\/i> expansion. One female patient was found to carry the D348G mutation in <i>MAPT<\/i>, previously reported in an Italian family with lower motor neuron disease. Our patient presented both upper and lower motor neuron signs, early development of dyspnea, resting and kinetic tremor, and a slow disease course (&#x3e; 11 years). The present case further broadens the clinical phenotype associated with <i>MAPT<\/i> mutations and suggests that, although rarely, <i>MAPT<\/i> mutations can cause ALS and, therefore, should be analyzed in ALS patients, especially in those with early breathing difficulties and long-lasting disease.<\/jats:p>","DOI":"10.1159\/000497820","type":"journal-article","created":{"date-parts":[[2019,3,20]],"date-time":"2019-03-20T22:00:41Z","timestamp":1553119241000},"page":"310-314","source":"Crossref","is-referenced-by-count":22,"title":["Role of <b><i>MAPT<\/i><\/b> in Pure Motor Neuron Disease: Report of a Recurrent Mutation in Italian Patients"],"prefix":"10.1159","volume":"18","author":[{"given":"Paola","family":"Origone","sequence":"first","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Alessandro","family":"Geroldi","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Merit","family":"Lamp","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Francesca","family":"Sanguineri","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Claudia","family":"Caponnetto","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Corrado","family":"Cabona","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Fabio","family":"Gotta","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Lucia","family":"Trevisan","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Emilia","family":"Bellone","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Fiore","family":"Manganelli","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Grazia","family":"Devigili","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Paola","family":"Mandich","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]}],"member":"127","published-online":{"date-parts":[[2019,3,20]]},"reference":[{"key":"ref1","doi-asserted-by":"publisher","DOI":"10.1038\/nature20413"},{"key":"ref2","doi-asserted-by":"publisher","DOI":"10.1038\/362059a0"},{"key":"ref3","doi-asserted-by":"publisher","DOI":"10.1038\/nrdp.2017.71"},{"key":"ref4","doi-asserted-by":"publisher","DOI":"10.1016\/S1474-4422(17)30401-5"},{"key":"ref5","doi-asserted-by":"publisher","DOI":"10.1038\/nn.3584"},{"key":"ref6","doi-asserted-by":"publisher","DOI":"10.1242\/dmm.029058"},{"key":"ref7","doi-asserted-by":"publisher","DOI":"10.1212\/01.WNL.0000160116.65034.12"},{"key":"ref8","doi-asserted-by":"publisher","DOI":"10.1016\/j.jns.2005.04.004"},{"key":"ref9","doi-asserted-by":"publisher","DOI":"10.1007\/s00401-014-1293-z"},{"key":"ref10","doi-asserted-by":"publisher","DOI":"10.1186\/s12883-017-0966-3"},{"key":"ref11","doi-asserted-by":"publisher","DOI":"10.1111\/nan.12456"},{"key":"ref12","doi-asserted-by":"publisher","DOI":"10.1016\/j.neurobiolaging.2018.01.013"},{"key":"ref13","doi-asserted-by":"publisher","DOI":"10.1093\/geront\/gnt086"},{"key":"ref14","doi-asserted-by":"publisher","DOI":"10.1016\/S0022-510X(99)00210-5"},{"key":"ref15","doi-asserted-by":"publisher","DOI":"10.3109\/21678421.2015.1074700"},{"key":"ref16","doi-asserted-by":"publisher","DOI":"10.1212\/WNL.0000000000000476"},{"key":"ref17","doi-asserted-by":"publisher","DOI":"10.3390\/biom6010009"},{"key":"ref18","doi-asserted-by":"publisher","DOI":"10.18632\/oncotarget.16690"},{"key":"ref19","doi-asserted-by":"publisher","DOI":"10.1038\/78078"},{"key":"ref20","doi-asserted-by":"publisher","DOI":"10.1016\/S0896-6273(02)00789-4"}],"container-title":["Neurodegenerative Diseases"],"original-title":[],"language":"en","link":[{"URL":"https:\/\/www.karger.com\/Article\/Pdf\/497820","content-type":"application\/pdf","content-version":"vor","intended-application":"text-mining"},{"URL":"https:\/\/www.karger.com\/Article\/Pdf\/497820","content-type":"unspecified","content-version":"vor","intended-application":"similarity-checking"}],"deposited":{"date-parts":[[2025,4,23]],"date-time":"2025-04-23T16:22:34Z","timestamp":1745425354000},"score":1,"resource":{"primary":{"URL":"https:\/\/karger.com\/article\/doi\/10.1159\/000497820"}},"subtitle":[],"short-title":[],"issued":{"date-parts":[[2018]]},"references-count":20,"journal-issue":{"issue":"5-6","published-online":{"date-parts":[[2019,4,11]]},"published-print":{"date-parts":[[2019,4,16]]}},"URL":"https:\/\/doi.org\/10.1159\/000497820","archive":["Portico"],"relation":{},"ISSN":["1660-2854","1660-2862"],"issn-type":[{"value":"1660-2854","type":"print"},{"value":"1660-2862","type":"electronic"}],"subject":[],"published":{"date-parts":[[2018]]}}}