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There is growing interest in intermediate repeat expansions in <jats:italic>C9orf72<\/jats:italic> and their relationship to a wide range of neurological presentations, including Alzheimer\u2019s disease, Parkinson\u2019s disease, progressive supranuclear palsy, corticobasal degeneration, and corticobasal syndromes.<\/jats:p>\n          <\/jats:sec>\n          <jats:sec>\n            <jats:title>Aims<\/jats:title>\n            <jats:p>To assess the prevalence of intermediate <jats:italic>C9orf72<\/jats:italic> repeat expansions in a large cohort of prospectively-recruited patients clinically diagnosed with progressive supranuclear palsy (PSP), corticobasal syndrome (CBS), and atypical parkinsonism (APS), compared with healthy controls. We also sought to replicate the association between C9orf72 repeat length and\u00a0CBD in neuropathologically confirmed cases.<\/jats:p>\n          <\/jats:sec>\n          <jats:sec>\n            <jats:title>Methods<\/jats:title>\n            <jats:p>626 cases, including PSP (<jats:italic>n<\/jats:italic>\u2009=\u2009366), CBS (<jats:italic>n<\/jats:italic>\u2009=\u2009130), and APS (<jats:italic>n<\/jats:italic>\u2009=\u200953) from the PROSPECT study, and 77 cases with pathologically confirmed CBD were screened for intermediate repeat expansions in <jats:italic>C9orf72<\/jats:italic> using repeat-primed PCR. These were compared to controls from the PROSPECT-M-UK study and from the 1958 Birth Cohort.<\/jats:p>\n          <\/jats:sec>\n          <jats:sec>\n            <jats:title>Results<\/jats:title>\n            <jats:p>There was no difference in the mean or largest allele size in any affected patient group compared with controls. A higher proportion of our affected cohort had large <jats:italic>C9orf72<\/jats:italic> repeat expansions compared to controls, but there was no difference when comparing the frequency of intermediate expansions between affected patients and controls. There was no relationship between repeat length and age at onset, level of disability, or survival.<\/jats:p>\n          <\/jats:sec>\n          <jats:sec>\n            <jats:title>Conclusions<\/jats:title>\n            <jats:p>Intermediate expansions in <jats:italic>C9orf72<\/jats:italic> do not appear to be a genetic risk factor for PSP, CBS, CBD, or atypical parkinsonism. They are not associated with age at onset, disability, or survival in our study.<\/jats:p>\n          <\/jats:sec>","DOI":"10.1007\/s00415-025-12990-9","type":"journal-article","created":{"date-parts":[[2025,3,29]],"date-time":"2025-03-29T05:13:48Z","timestamp":1743225228000},"update-policy":"https:\/\/doi.org\/10.1007\/springer_crossmark_policy","source":"Crossref","is-referenced-by-count":4,"title":["Analysis of C9orf72 repeat length in progressive supranuclear palsy, corticobasal syndrome, corticobasal degeneration, and atypical parkinsonism"],"prefix":"10.1007","volume":"272","author":[{"given":"David P.","family":"Vaughan","sequence":"first","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Raquel","family":"Real","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Marte Theilmann","family":"Jensen","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Riona G.","family":"Fumi","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Megan","family":"Hodgson","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Edwin","family":"Jabbari","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Danielle","family":"Lux","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Lesley","family":"Wu","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"name":"PROSPECT consortium","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"name":"MD-GAP","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Thomas T.","family":"Warner","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Zane","family":"Jaunmuktane","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Tamas","family":"Revesz","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"James B.","family":"Rowe","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Jonathan","family":"Rohrer","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"ORCID":"https:\/\/orcid.org\/0000-0002-5473-3774","authenticated-orcid":false,"given":"Huw R.","family":"Morris","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]}],"member":"297","published-online":{"date-parts":[[2025,3,26]]},"reference":[{"key":"12990_CR1","doi-asserted-by":"publisher","first-page":"699","DOI":"10.1038\/ng.859","volume":"43","author":"GU H\u00f6glinger","year":"2011","unstructured":"H\u00f6glinger GU, Melhem NM, Dickson DW, Sleiman PMA, Wang LS, Klei L, Rademakers R, de Silva R, Litvan I, Riley D, van Swieten JC, Heutink P, Wszolek ZK, Uitti RJ, Vandrovcova J, Hurtig HI, Gross RG, Maetzler W, Goldwurm S, Tolosa E, Borroni B, Pastor P, Cantwell LB, Han MR, Dillman A, van der Brug MP, Raphael Gibbs J, Cookson MR, Hernandez DG, Singleton AB, Farrer MJ, Chang-En Y, Golbe LI, Revesz T, Hardy J, Lees AJ, Devlin B, Hakonarson H, M\u00fcller U, Schellenberg GD (2011) Identification of common variants influencing risk of the tauopathy progressive supranuclear palsy. 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