{"status":"ok","message-type":"work","message-version":"1.0.0","message":{"indexed":{"date-parts":[[2026,10,12]],"date-time":"2026-10-12T14:34:20Z","timestamp":1791815660167,"version":"4.3.4"},"reference-count":90,"publisher":"Frontiers Media SA","license":[{"start":{"date-parts":[[2022,4,26]],"date-time":"2022-04-26T00:00:00Z","timestamp":1650931200000},"content-version":"vor","delay-in-days":0,"URL":"https:\/\/creativecommons.org\/licenses\/by\/4.0\/"}],"content-domain":{"domain":["frontiersin.org"],"crossmark-restriction":true},"short-container-title":["Front. Neurol."],"abstract":"<jats:p>The progressive supranuclear palsy (PSP) syndrome encompasses different entities. PSP disease of sporadic origin is the most frequent presentation, but different genetic mutations can lead either to monogenic variants of PSP disease, or to other conditions with a different pathophysiology that eventually may result in PSP phenotype. PSP syndrome of monogenic origin is poorly understood due to the low prevalence and variable expressivity of some mutations. Through this review, we describe how early age of onset, family history of early dementia, parkinsonism, dystonia, or motor neuron disease among other clinical features, as well as some neuroimaging signatures, may be the important clues to suspect PSP syndrome of monogenic origin. In addition, a diagnostic algorithm is proposed that may be useful to guide the genetic diagnosis once there is clinical suspicion of a monogenic PSP syndrome.<\/jats:p>","DOI":"10.3389\/fneur.2022.861585","type":"journal-article","created":{"date-parts":[[2022,5,25]],"date-time":"2022-05-25T13:45:05Z","timestamp":1653486305000},"update-policy":"https:\/\/doi.org\/10.3389\/crossmark-policy","source":"Crossref","is-referenced-by-count":7,"title":["Genotype\u2013Phenotype Correlation in Progressive Supranuclear Palsy Syndromes: Clinical and Radiological Similarities and Specificities"],"prefix":"10.3389","volume":"13","author":[{"given":"I\u00f1igo","family":"Ruiz-Barrio","sequence":"first","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Andrea","family":"Horta-Barba","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Ignacio","family":"Ill\u00e1n-Gala","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Jaime","family":"Kulisevsky","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Javier","family":"Pagonabarraga","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]}],"member":"1965","published-online":{"date-parts":[[2022,4,26]]},"reference":[{"key":"B1","doi-asserted-by":"publisher","first-page":"853","DOI":"10.1002\/mds.26987","article-title":"Clinical diagnosis of progressive supranuclear palsy: the movement disorder society criteria","volume":"32","author":"Hoglinger","year":"2017","journal-title":"Mov Disord."},{"key":"B2","doi-asserted-by":"publisher","first-page":"1184","DOI":"10.1002\/mds.25509","article-title":"\u201cAtypical\u201d atypical parkinsonism: new genetic conditions presenting with features of progressive supranuclear palsy, corticobasal degeneration, or multiple system atrophy-a diagnostic guide","volume":"28","author":"Stamelou","year":"2013","journal-title":"Mov Disord"},{"key":"B3","doi-asserted-by":"publisher","first-page":"699","DOI":"10.1038\/ng.859","article-title":"Identification of common variants influencing risk of the tauopathy progressive supranuclear palsy","volume":"43","author":"H\u00f6glinger","year":"2011","journal-title":"Nat Genet."},{"key":"B4","doi-asserted-by":"publisher","first-page":"24","DOI":"10.1111\/nan.12213","article-title":"Invited review: frontotemporal dementia caused by microtubule-associated protein tau gene (MAPT) mutations: a chameleon for neuropathology and neuroimaging","volume":"41","author":"Ghetti","year":"2015","journal-title":"Neuropathol Appl Neurobiol."},{"key":"B5","doi-asserted-by":"publisher","first-page":"277","DOI":"10.1002\/humu.20086","article-title":"The role of tau (MAPT) in frontotemporal dementia and related tauopathies","volume":"24","author":"Rademakers","year":"2004","journal-title":"Hum Mutat."},{"key":"B6","doi-asserted-by":"publisher","first-page":"327","DOI":"10.1016\/bs.irn.2019.10.008","article-title":"Genetic mimics of the non-genetic atypical parkinsonian disorders - the \u226a atypical \u226b atypical","volume":"149","author":"Giagkou","year":"2019","journal-title":"Int Rev Neurobiol."},{"key":"B7","doi-asserted-by":"publisher","first-page":"104","DOI":"10.1016\/0022-510X(95)00015-T","article-title":"Environment-driven responses in progressive supranuclear palsy","volume":"130","author":"Ghika","year":"1995","journal-title":"J Neurol Sci."},{"key":"B8","doi-asserted-by":"publisher","first-page":"511","DOI":"10.1002\/ana.10340","article-title":"An R5L tau mutation in a subject with a progressive supranuclear palsy phenotype","volume":"52","author":"Poorkaj","year":"2002","journal-title":"Ann Neurol."},{"key":"B9","doi-asserted-by":"publisher","first-page":"149","DOI":"10.1159\/000319454","article-title":"Novel L284R MAPT mutation in a family with an autosomal dominant progressive supranuclear palsy syndrome","volume":"8","author":"Rohrer","year":"2011","journal-title":"Neurodegener Dis."},{"key":"B10","doi-asserted-by":"publisher","first-page":"101","DOI":"10.1016\/j.parkreldis.2014.10.028","article-title":"Three sib-pairs of autopsy-confirmed progressive supranuclear palsy","volume":"21","author":"Fujioka","year":"2015","journal-title":"Parkinsonism Relat Disord."},{"key":"B11","doi-asserted-by":"publisher","first-page":"15","DOI":"10.1016\/j.parkreldis.2012.06.019","article-title":"Analyses of the MAPT, PGRN, and C9orf72 mutations in Japanese patients with FTLD. 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