{"status":"ok","message-type":"work","message-version":"1.0.0","message":{"indexed":{"date-parts":[[2026,6,27]],"date-time":"2026-06-27T08:36:14Z","timestamp":1782549374606,"version":"3.54.5"},"reference-count":36,"publisher":"S. Karger AG","issue":"1-2","license":[{"start":{"date-parts":[[2019,1,1]],"date-time":"2019-01-01T00:00:00Z","timestamp":1546300800000},"content-version":"vor","delay-in-days":0,"URL":"https:\/\/www.karger.com\/Services\/SiteLicenses"},{"start":{"date-parts":[[2019,1,1]],"date-time":"2019-01-01T00:00:00Z","timestamp":1546300800000},"content-version":"tdm","delay-in-days":0,"URL":"https:\/\/www.karger.com\/Services\/SiteLicenses"}],"content-domain":{"domain":[],"crossmark-restriction":false},"short-container-title":["Dement Geriatr Cogn Disord"],"published-print":{"date-parts":[[2019]]},"abstract":"<b><i>Background\/Aims:<\/i><\/b> The <i>C9ORF72<\/i> expansion is known to cause frontotemporal lobar degeneration (FTLD) and amyotrophic lateral sclerosis (ALS). We aim to identify the prevalence of the <i>C9ORF72<\/i> expansion in idiopathic normal pressure hydrocephalus (iNPH). <b><i>Methods:<\/i><\/b> We analysed the <i>C9ORF72<\/i> expansion in a large cohort of patients with possible iNPH (<i>n<\/i> = 487) and cognitively intact elderly controls (<i>n<\/i> = 432; age &#x3e; 65 years). <b><i>Results:<\/i><\/b> While the <i>C9ORF72<\/i> expansion was detected in 1.6% (<i>n<\/i> = 8\/487) of cases with possible iNPH, no control subject was found to carry the mutation. The mean age at onset of symptoms of <i>C9ORF72<\/i> expansion carriers was 59 years (range: 52\u201367 years), 11 years less than non-carriers (<i>p<\/i> = 0.0002). The most frequent initial\/main symptom pertained to gait difficulties. Despite identified mutation, only 3 of the patients fulfilled the criteria for the FTLD-ALS spectrum. Clinically significant shunt response was detected in 6 out of 7 shunted <i>C9ORF72<\/i> expansion carriers. <b><i>Conclusion:<\/i><\/b> This is the first study cohort identifying the underlying <i>C9ORF72<\/i> expansion in patients with iNPH providing evidence for the potential comorbidity between iNPH and the FTLD-ALS spectrum. Analysis of the <i>C9ORF72<\/i> expansion should be considered for patients with probable iNPH presenting with frontal atrophy and personality changes or other severe psychiatric symptoms.<\/jats:p>","DOI":"10.1159\/000497306","type":"journal-article","created":{"date-parts":[[2019,3,12]],"date-time":"2019-03-12T22:00:27Z","timestamp":1552428027000},"page":"91-103","source":"Crossref","is-referenced-by-count":18,"title":["Prevalence of <b><i>C9ORF72<\/i><\/b> Expansion in a Large Series of Patients with Idiopathic Normal-Pressure Hydrocephalus"],"prefix":"10.1159","volume":"47","author":[{"given":"Ville\u00a0E.","family":"Korhonen","sequence":"first","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Anne\u00a0M.","family":"Remes","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Seppo","family":"Helisalmi","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Tuomas","family":"Rauramaa","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Anna","family":"Sutela","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Ritva","family":"Vanninen","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Noora-Maria","family":"Suhonen","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Annakaisa","family":"Haapasalo","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Mikko","family":"Hiltunen","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Juha\u00a0E.","family":"J\u00e4\u00e4skel\u00e4inen","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Hilkka","family":"Soininen","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Anne\u00a0M.","family":"Koivisto","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Ville","family":"Leinonen","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]}],"member":"127","published-online":{"date-parts":[[2019,3,12]]},"reference":[{"key":"ref1","doi-asserted-by":"publisher","DOI":"10.1136\/jnnp-2013-306117"},{"key":"ref2","doi-asserted-by":"publisher","DOI":"10.1186\/2045-8118-10-22"},{"key":"ref3","doi-asserted-by":"publisher","DOI":"10.1212\/CPJ.0b013e3182a78f6b"},{"key":"ref4","doi-asserted-by":"publisher","DOI":"10.1159\/000328924"},{"key":"ref5","doi-asserted-by":"publisher","DOI":"10.1093\/brain\/awr179"},{"key":"ref6","doi-asserted-by":"publisher","DOI":"10.1016\/j.neuron.2011.09.011"},{"key":"ref7","doi-asserted-by":"publisher","DOI":"10.1016\/j.neuron.2011.09.010"},{"key":"ref8","doi-asserted-by":"publisher","DOI":"10.1159\/000351859"},{"key":"ref9","doi-asserted-by":"publisher","DOI":"10.1093\/brain\/awr354"},{"key":"ref10","doi-asserted-by":"publisher","DOI":"10.1186\/s12987-017-0060-7"},{"key":"ref11","doi-asserted-by":"publisher","DOI":"10.1212\/WNL.0000000000001012"},{"key":"ref12","doi-asserted-by":"publisher","DOI":"10.1002\/humu.22244"},{"key":"ref13","doi-asserted-by":"publisher","DOI":"10.1111\/ahg.12033"},{"key":"ref14","doi-asserted-by":"publisher","DOI":"10.1002\/mds.25838"},{"key":"ref15","doi-asserted-by":"publisher","DOI":"10.1016\/j.neurobiolaging.2014.08.024"},{"key":"ref16","doi-asserted-by":"publisher","DOI":"10.1007\/s00415-015-7873-6"},{"key":"ref17","doi-asserted-by":"publisher","DOI":"10.1007\/s00415-016-8021-7"},{"key":"ref18","doi-asserted-by":"publisher","DOI":"10.1093\/brain\/aws357"},{"key":"ref19","doi-asserted-by":"publisher","DOI":"10.1016\/j.jns.2017.04.027"},{"key":"ref20","doi-asserted-by":"publisher","DOI":"10.1002\/ana.25046"},{"key":"ref21","doi-asserted-by":"publisher","DOI":"10.1212\/WNL.0b013e318292a342"},{"key":"ref22","doi-asserted-by":"publisher","DOI":"10.1227\/01.NEU.0000175724.00147.10"},{"key":"ref23","doi-asserted-by":"publisher","DOI":"10.1159\/000087092"},{"key":"ref24","doi-asserted-by":"publisher","DOI":"10.1007\/s00401-013-1232-4"},{"key":"ref25","doi-asserted-by":"publisher","DOI":"10.1007\/s00401-012-1048-7"},{"key":"ref26","doi-asserted-by":"publisher","DOI":"10.1159\/000371704"},{"key":"ref27","doi-asserted-by":"publisher","DOI":"10.1111\/j.1365-2990.2011.01195.x"},{"key":"ref28","doi-asserted-by":"publisher","DOI":"10.1093\/neuros\/nyy147"},{"key":"ref29","doi-asserted-by":"publisher","DOI":"10.1186\/alzrt144"},{"key":"ref30","doi-asserted-by":"publisher","DOI":"10.2169\/internalmedicine.50.4505"},{"key":"ref31","doi-asserted-by":"publisher","DOI":"10.1001\/archneur.1984.04050150117029"},{"key":"ref32","doi-asserted-by":"publisher","DOI":"10.1016\/j.jns.2016.06.052"},{"key":"ref33","doi-asserted-by":"publisher","DOI":"10.1016\/j.jns.2011.06.018"},{"key":"ref34","doi-asserted-by":"publisher","DOI":"10.1017\/S031716710001146X"},{"key":"ref35","doi-asserted-by":"publisher","DOI":"10.1212\/NXG.0000000000000291"},{"key":"ref36","doi-asserted-by":"publisher","DOI":"10.1002\/jnr.23238"}],"container-title":["Dementia 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