{"status":"ok","message-type":"work","message-version":"1.0.0","message":{"indexed":{"date-parts":[[2026,9,30]],"date-time":"2026-09-30T05:10:54Z","timestamp":1790745054128,"version":"4.1.0"},"reference-count":27,"publisher":"S. Karger AG","issue":"3","license":[{"start":{"date-parts":[[2013,1,1]],"date-time":"2013-01-01T00:00:00Z","timestamp":1356998400000},"content-version":"vor","delay-in-days":0,"URL":"https:\/\/www.karger.com\/Services\/SiteLicenses"},{"start":{"date-parts":[[2013,1,1]],"date-time":"2013-01-01T00:00:00Z","timestamp":1356998400000},"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":[[2013]]},"abstract":"<b><i>Background:<\/i><\/b> Recently, mutations in the <i>TARDBP<\/i> gene encoding the TAR DNA-binding protein 43 (TDP-43) have been identified<b> <\/b>in some familial amyotrophic lateral sclerosis (ALS) and sporadic ALS patients. The phenotype and frequency of <i>TARDBP<\/i> mutation carriers reportedly varies greatly among European populations. <b><i>Objective:<\/i><\/b> To define the phenotypic spectrum of <i>TARDBP<\/i> mutations and their frequency in a Swiss population. <b><i>Methods:<\/i><\/b> A total of 225 patients diagnosed with ALS (182 sporadic cases, 43 familial cases) were screened for<i> TARDBP<\/i> mutations. All patients were carefully examined and interviewed for a familial predisposition. Except for 1 patient who was followed at the University of Geneva, all patients were followed at the Kantonsspital St. Gallen. <b><i>Results:<\/i><\/b> 43 patients (19.5%) had a definite family history for ALS. A <i>TARDBP<\/i> mutation was identified in 4 of these (9.3%). Two female ALS patients carried the p.Asn352Ser mutation. Both had limb onset and a slowly progressive course of the disease. A novel mutation (p.Gly376Asp) was identified in a 44-year-old female patient. Survival amongst affected family members varied between 6 and 18 months. The patient and also the other siblings affected with ALS had an accessory nipple. A fourth male patient carried the p.Ala90Val mutation. None of the patients had overt cognitive impairment. <i>TARDBP<\/i> mutations were not found among patients with sporadic forms of ALS. <b><i>Conclusion:<\/i><\/b> In this Swiss population, the frequency of familial ALS is higher than reported earlier in other populations. The novel p.Gly376Asp <i>TARDBP<\/i> mutation is associated with rapid disease progression and may be associated with an accessory nipple while the p.Asn352Ser mutation is associated with slow disease progression.<\/jats:p>","DOI":"10.1159\/000345835","type":"journal-article","created":{"date-parts":[[2013,1,14]],"date-time":"2013-01-14T07:53:13Z","timestamp":1358149993000},"page":"150-155","source":"Crossref","is-referenced-by-count":18,"title":["Phenotypes in Swiss Patients with Familial ALS Carrying <b><i>TARDBP<\/i><\/b> Mutations"],"prefix":"10.1159","volume":"12","author":[{"given":"D.","family":"Czell","sequence":"first","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"P.M.","family":"Andersen","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"M.","family":"Morita","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"C.","family":"Neuwirth","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"F.","family":"Perren","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"M.","family":"Weber","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]}],"member":"127","published-online":{"date-parts":[[2013,1,10]]},"reference":[{"key":"ref1","doi-asserted-by":"publisher","DOI":"10.1126\/science.1134108"},{"key":"ref2","doi-asserted-by":"publisher","DOI":"10.1007\/s00401-007-0226-5"},{"key":"ref3","doi-asserted-by":"publisher","DOI":"10.1007\/s10048-009-0218-9"},{"key":"ref4","doi-asserted-by":"publisher","DOI":"10.1002\/humu.21100"},{"key":"ref5","doi-asserted-by":"publisher","DOI":"10.1007\/s10048-011-0288-3"},{"key":"ref6","doi-asserted-by":"publisher","DOI":"10.3109\/17482960903165039"},{"key":"ref7","doi-asserted-by":"publisher","DOI":"10.1001\/archneur.65.9.1185"},{"key":"ref8","doi-asserted-by":"publisher","DOI":"10.1002\/humu.20950"},{"key":"ref9","doi-asserted-by":"publisher","DOI":"10.1111\/j.1468-1331.2009.02574.x"},{"key":"ref10","doi-asserted-by":"publisher","DOI":"10.1212\/WNL.0b013e31825dceca"},{"key":"ref11","doi-asserted-by":"publisher","DOI":"10.1038\/jhg.2012.24"},{"key":"ref12","doi-asserted-by":"publisher","DOI":"10.1080\/146608200300079536"},{"key":"ref13","doi-asserted-by":"publisher","DOI":"10.1186\/1750-1172-4-3"},{"key":"ref14","doi-asserted-by":"publisher","DOI":"10.1136\/jnnp.2011.241349"},{"key":"ref15","doi-asserted-by":"publisher","DOI":"10.1159\/000070564"},{"key":"ref16","doi-asserted-by":"publisher","DOI":"10.1093\/aje\/155.4.313"},{"key":"ref17","doi-asserted-by":"publisher","DOI":"10.1136\/jnnp.2010.237412"},{"key":"ref18","doi-asserted-by":"publisher","DOI":"10.1016\/j.jns.2009.04.017"},{"key":"ref19","doi-asserted-by":"publisher","DOI":"10.3233\/JAD-2010-100198"},{"key":"ref20","doi-asserted-by":"publisher","DOI":"10.1016\/j.febslet.2008.05.024"},{"key":"ref21","doi-asserted-by":"publisher","DOI":"10.1126\/science.1154584"},{"key":"ref22","doi-asserted-by":"publisher","DOI":"10.1002\/ana.21344"},{"key":"ref23","doi-asserted-by":"publisher","DOI":"10.1016\/S1474-4422(08)70071-1"},{"key":"ref24","doi-asserted-by":"publisher","DOI":"10.1038\/nrneurol.2011.150"},{"key":"ref25","doi-asserted-by":"publisher","DOI":"10.1038\/ng.132"},{"key":"ref26","doi-asserted-by":"publisher","DOI":"10.1371\/journal.ppat.1000193"},{"key":"ref27","doi-asserted-by":"publisher","DOI":"10.1212\/01.wnl.0000299187.90432.3f"}],"container-title":["Neurodegenerative Diseases"],"original-title":[],"language":"en","link":[{"URL":"https:\/\/www.karger.com\/Article\/Pdf\/345835","content-type":"application\/pdf","content-version":"vor","intended-application":"text-mining"},{"URL":"https:\/\/www.karger.com\/Article\/Pdf\/345835","content-type":"unspecified","content-version":"vor","intended-application":"similarity-checking"}],"deposited":{"date-parts":[[2025,4,23]],"date-time":"2025-04-23T18:39:44Z","timestamp":1745433584000},"score":1,"resource":{"primary":{"URL":"https:\/\/karger.com\/article\/doi\/10.1159\/000345835"}},"subtitle":[],"short-title":[],"issued":{"date-parts":[[2013]]},"references-count":27,"journal-issue":{"issue":"3","published-online":{"date-parts":[[2013,9,1]]},"published-print":{"date-parts":[[2013,9,12]]}},"URL":"https:\/\/doi.org\/10.1159\/000345835","archive":["Portico"],"relation":{},"ISSN":["1660-2854","1660-2862"],"issn-type":[{"value":"1660-2854","type":"print"},{"value":"1660-2862","type":"electronic"}],"subject":[],"published":{"date-parts":[[2013]]}}}