{"status":"ok","message-type":"work","message-version":"1.0.0","message":{"indexed":{"date-parts":[[2025,10,21]],"date-time":"2025-10-21T00:40:46Z","timestamp":1761007246017,"version":"build-2065373602"},"reference-count":10,"publisher":"Wiley","issue":"3","license":[{"start":{"date-parts":[[2023,1,24]],"date-time":"2023-01-24T00:00:00Z","timestamp":1674518400000},"content-version":"vor","delay-in-days":0,"URL":"http:\/\/onlinelibrary.wiley.com\/termsAndConditions#vor"}],"content-domain":{"domain":["movementdisorders.onlinelibrary.wiley.com"],"crossmark-restriction":true},"short-container-title":["Movement Disord Clin Pract"],"published-print":{"date-parts":[[2023,3]]},"abstract":"<jats:title>ABSTRACT<\/jats:title><jats:sec><jats:title>Background<\/jats:title><jats:p>Progressive supranuclear palsy (PSP)\u2013Richardson's syndrome (RS) presents with a distinctive clinical phenotype of supranuclear ophthalmoplegia, parkinsonism, postural instability with falls, and cognitive impairment. Several rare neurological conditions have been described that mimic PSP, and the co\u2010occurrence of dual pathologies has also been described.<\/jats:p><\/jats:sec><jats:sec><jats:title>Cases<\/jats:title><jats:p>In this article, we present 2 cases of patients who presented with a parkinsonian phenotype suggestive of PSP\u2010RS. In 1 case, a family history and early levodopa\u2010induced chorea led to testing for Huntington's disease, and a pathogenic <jats:italic>HTT<\/jats:italic> mutation was found. In the second case, magnetic resonance imaging findings led to genetic confirmation of a pathogenic <jats:italic>FMR1<\/jats:italic> mutation.<\/jats:p><\/jats:sec><jats:sec><jats:title>Conclusions<\/jats:title><jats:p>These observations raised the possibility that HD and fragile\u2010X tremor\u2010ataxia syndrome may on occasion present with PSP\u2010RS. Alternatively, and perhaps more likely, is the co\u2010occurrence of 2 rare neurodegenerative conditions. Neuropathological studies of cases involving complex phenotypes in rare genetic conditions are required to better understand the likely pathologies in cases such as these.<\/jats:p><\/jats:sec>","DOI":"10.1002\/mdc3.13645","type":"journal-article","created":{"date-parts":[[2022,12,21]],"date-time":"2022-12-21T22:20:22Z","timestamp":1671661222000},"page":"482-485","update-policy":"https:\/\/doi.org\/10.1002\/crossmark_policy","source":"Crossref","is-referenced-by-count":1,"title":["Mimics or Multiplicity: 2 Cases of Rare Neurological Conditions Discovered Following Presentation with Richardson's Syndrome Phenotype"],"prefix":"10.1002","volume":"10","author":[{"ORCID":"https:\/\/orcid.org\/0000-0001-8381-7531","authenticated-orcid":false,"given":"Shane","family":"Lyons","sequence":"first","affiliation":[{"name":"Neurology Department Tallaght University Hospital  Dublin Ireland"},{"name":"Dublin Neurological Institute Mater Misericordiae University Hospital  Dublin Ireland"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Timothy","family":"Lynch","sequence":"additional","affiliation":[{"name":"Dublin Neurological Institute Mater Misericordiae University Hospital  Dublin Ireland"},{"name":"Health Affairs, University College Dublin  Dublin Ireland"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Richard","family":"Walsh","sequence":"additional","affiliation":[{"name":"Neurology Department Tallaght University Hospital  Dublin Ireland"},{"name":"Dublin Neurological Institute Mater Misericordiae University Hospital  Dublin Ireland"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Sean","family":"O'Dowd","sequence":"additional","affiliation":[{"name":"Neurology Department Tallaght University Hospital  Dublin Ireland"},{"name":"Institute of Memory and Cognition Tallaght University Hospital  Dublin Ireland"}],"role":[{"role":"author","vocabulary":"crossref"}]}],"member":"311","published-online":{"date-parts":[[2023,1,24]]},"reference":[{"key":"e_1_2_6_2_1","doi-asserted-by":"publisher","DOI":"10.1016\/j.parkreldis.2014.01.006"},{"key":"e_1_2_6_3_1","doi-asserted-by":"publisher","DOI":"10.1016\/j.jns.2020.117108"},{"key":"e_1_2_6_4_1","doi-asserted-by":"publisher","DOI":"10.1093\/jnen\/nlz141"},{"key":"e_1_2_6_5_1","first-page":"181","article-title":"Westphal variant Huntington's disease masquerading as MSA","volume":"13","author":"Trosch RMLP","year":"1996","journal-title":"Mov Disord"},{"key":"e_1_2_6_6_1","doi-asserted-by":"publisher","DOI":"10.1001\/archneur.1962.04210040027003"},{"key":"e_1_2_6_7_1","doi-asserted-by":"publisher","DOI":"10.1016\/0022-510x(86)90187-5"},{"key":"e_1_2_6_8_1","doi-asserted-by":"publisher","DOI":"10.1056\/NEJM197206222862503"},{"key":"e_1_2_6_9_1","doi-asserted-by":"publisher","DOI":"10.1212\/wnl.57.1.127"},{"key":"e_1_2_6_10_1","doi-asserted-by":"publisher","DOI":"10.1007\/s10048-010-0270-5"},{"key":"e_1_2_6_11_1","doi-asserted-by":"publisher","DOI":"10.3389\/fgene.2018.00317"}],"container-title":["Movement Disorders Clinical Practice"],"original-title":[],"language":"en","link":[{"URL":"https:\/\/onlinelibrary.wiley.com\/doi\/pdf\/10.1002\/mdc3.13645","content-type":"application\/pdf","content-version":"vor","intended-application":"text-mining"},{"URL":"https:\/\/onlinelibrary.wiley.com\/doi\/full-xml\/10.1002\/mdc3.13645","content-type":"application\/xml","content-version":"vor","intended-application":"text-mining"},{"URL":"https:\/\/movementdisorders.onlinelibrary.wiley.com\/doi\/pdf\/10.1002\/mdc3.13645","content-type":"unspecified","content-version":"vor","intended-application":"similarity-checking"}],"deposited":{"date-parts":[[2025,10,20]],"date-time":"2025-10-20T12:24:57Z","timestamp":1760963097000},"score":1,"resource":{"primary":{"URL":"https:\/\/movementdisorders.onlinelibrary.wiley.com\/doi\/10.1002\/mdc3.13645"}},"subtitle":[],"short-title":[],"issued":{"date-parts":[[2023,1,24]]},"references-count":10,"journal-issue":{"issue":"3","published-print":{"date-parts":[[2023,3]]}},"alternative-id":["10.1002\/mdc3.13645"],"URL":"https:\/\/doi.org\/10.1002\/mdc3.13645","archive":["Portico"],"relation":{},"ISSN":["2330-1619","2330-1619"],"issn-type":[{"type":"print","value":"2330-1619"},{"type":"electronic","value":"2330-1619"}],"subject":[],"published":{"date-parts":[[2023,1,24]]},"assertion":[{"value":"2022-06-29","order":0,"name":"received","label":"Received","group":{"name":"publication_history","label":"Publication History"}},{"value":"2022-11-27","order":2,"name":"accepted","label":"Accepted","group":{"name":"publication_history","label":"Publication History"}},{"value":"2023-01-24","order":3,"name":"published","label":"Published","group":{"name":"publication_history","label":"Publication History"}}]}}