{"status":"ok","message-type":"work","message-version":"1.0.0","message":{"indexed":{"date-parts":[[2026,8,15]],"date-time":"2026-08-15T09:26:12Z","timestamp":1786785972095,"version":"build-2736575974"},"reference-count":40,"publisher":"Wiley","issue":"8","license":[{"start":{"date-parts":[[2026,4,1]],"date-time":"2026-04-01T00:00:00Z","timestamp":1775001600000},"content-version":"vor","delay-in-days":0,"URL":"http:\/\/onlinelibrary.wiley.com\/termsAndConditions#vor"},{"start":{"date-parts":[[2026,4,1]],"date-time":"2026-04-01T00:00:00Z","timestamp":1775001600000},"content-version":"tdm","delay-in-days":0,"URL":"http:\/\/doi.wiley.com\/10.1002\/tdm_license_1.1"}],"content-domain":{"domain":["movementdisorders.onlinelibrary.wiley.com"],"crossmark-restriction":true},"short-container-title":["Movement Disord Clin Pract"],"published-print":{"date-parts":[[2026,8]]},"abstract":"<jats:title>Abstract<\/jats:title>\n                  <jats:sec>\n                    <jats:title>Background<\/jats:title>\n                    <jats:p>Niemann Pick Type C (NP\u2010C) is a rare lysosomal disorder, characterized by clinical heterogeneity. Late age of onset (&gt;\u200940\u2009years) is exceedingly rare, with approximately 20 reports to date. Herein, we describe four siblings with disease onset over 40\u2009years of age.<\/jats:p>\n                  <\/jats:sec>\n                  <jats:sec>\n                    <jats:title>Cases<\/jats:title>\n                    <jats:p>\n                      Two of the siblings fulfilled criteria for probable PSP with Richardson syndrome (PSP\u2010RS), whereas the remaining cases had atypical clinical features, with prominent cerebellar symptoms and overt frontal\u2010executive dysfunction, fulfilling criteria for probable PSP\u2010RS and probable PSP with predominant frontal presentation (PSP\u2010F). All patients reported hearing loss. DaT\u2010scans were normal in two of the cases, and midbrain atrophy was absent. EEG was abnormal, with generalized paroxysms and short sequences of delta slow waves in one of the cases. All patients had a homozygous point mutation c.2861C&gt;T, p.(Ser954Leu) in the\n                      <jats:italic>NPC1<\/jats:italic>\n                      gene.\n                    <\/jats:p>\n                  <\/jats:sec>\n                  <jats:sec>\n                    <jats:title>Literature review<\/jats:title>\n                    <jats:p>\n                      A literature review supported the association between the c.2861C&gt;T, p.(Ser954Leu) mutation in the\n                      <jats:italic>NPC\u20101<\/jats:italic>\n                      gene and late\u2010onset NP\u2010C. Cerebellar signs, early\u2010onset hearing loss, normal DaT\u2010scan and absence of midbrain atrophy in brain MRI are red flags for a PSP diagnosis and should prompt further investigations for alternative diagnoses, including NP\u2010C.\n                    <\/jats:p>\n                  <\/jats:sec>\n                  <jats:sec>\n                    <jats:title>Conclusions<\/jats:title>\n                    <jats:p>Late onset (&gt;40\u2009years) NP\u2010C, particularly due to c.2861C&gt;T, p.(Ser954Leu) mutation in the NPC\u20101 gene, can mimic Richardson syndrome.<\/jats:p>\n                  <\/jats:sec>","DOI":"10.1002\/mdc3.70613","type":"journal-article","created":{"date-parts":[[2026,4,1]],"date-time":"2026-04-01T10:40:16Z","timestamp":1775040016000},"page":"1958-1966","update-policy":"https:\/\/doi.org\/10.1002\/crossmark_policy","source":"Crossref","is-referenced-by-count":0,"title":["Niemann Pick Type C Presenting as Familial Late\u2010Onset Richardson Syndrome. A Case Series of Four Siblings"],"prefix":"10.1002","volume":"13","author":[{"given":"Vasilios C.","family":"Constantinides","sequence":"first","affiliation":[{"name":"First Department of Neurology Eginition Hospital, School of Medicine, National and Kapodistrian University of Athens  Athens Greece"},{"name":"Neurochemistry and Biological Markers Unit, First Department of Neurology Eginition Hospital, School of Medicine, National and Kapodistrian University of Athens  Athens Greece"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"ORCID":"https:\/\/orcid.org\/0000-0001-5806-0717","authenticated-orcid":false,"given":"Christos","family":"Koros","sequence":"additional","affiliation":[{"name":"First Department of Neurology Eginition Hospital, School of Medicine, National and Kapodistrian University of Athens  Athens Greece"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Andreas","family":"Kyrozis","sequence":"additional","affiliation":[{"name":"First Department of 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