{"status":"ok","message-type":"work","message-version":"1.0.0","message":{"indexed":{"date-parts":[[2026,7,24]],"date-time":"2026-07-24T22:17:40Z","timestamp":1784931460364,"version":"3.55.0"},"reference-count":39,"publisher":"Wiley","issue":"9","license":[{"start":{"date-parts":[[2025,7,15]],"date-time":"2025-07-15T00:00:00Z","timestamp":1752537600000},"content-version":"vor","delay-in-days":0,"URL":"http:\/\/onlinelibrary.wiley.com\/termsAndConditions#vor"}],"funder":[{"DOI":"10.13039\/501100005762","name":"National Taiwan University Hospital","doi-asserted-by":"publisher","award":["113\u2010A\u2010CC\u20105401\u201064841"],"award-info":[{"award-number":["113\u2010A\u2010CC\u20105401\u201064841"]}],"id":[{"id":"10.13039\/501100005762","id-type":"DOI","asserted-by":"publisher"}]},{"DOI":"10.13039\/501100004737","name":"National Health Research Institutes","doi-asserted-by":"publisher","award":["NHRI\u2010EX114\u201011407NI"],"award-info":[{"award-number":["NHRI\u2010EX114\u201011407NI"]}],"id":[{"id":"10.13039\/501100004737","id-type":"DOI","asserted-by":"publisher"}]},{"DOI":"10.13039\/501100020950","name":"National Science and Technology Council","doi-asserted-by":"publisher","award":["113\u20102811\u2010B\u2010002 \u2010031"],"award-info":[{"award-number":["113\u20102811\u2010B\u2010002 \u2010031"]}],"id":[{"id":"10.13039\/501100020950","id-type":"DOI","asserted-by":"publisher"}]}],"content-domain":{"domain":["movementdisorders.onlinelibrary.wiley.com"],"crossmark-restriction":true},"short-container-title":["Movement Disorders"],"published-print":{"date-parts":[[2025,9]]},"abstract":"<jats:title>Abstract<\/jats:title><jats:sec><jats:title>Background<\/jats:title><jats:p>Repeat expansions in <jats:italic>NOTCH2NLC<\/jats:italic> and <jats:italic>FMR1<\/jats:italic> share clinical features, including parkinsonism and ataxia, resembling atypical parkinsonian syndromes. We analyzed these expansions in atypical parkinsonism patients without corticomedullary junction hyperintensity on diffusion\u2010weighted imaging, comparing them to asymptomatic elderly individuals.<\/jats:p><\/jats:sec><jats:sec><jats:title>Methods<\/jats:title><jats:p>We analyzed two cohorts: (1) 252 patients with atypical parkinsonism, including 165 with multiple system atrophy (MSA), 58 with progressive supranuclear palsy (PSP), and 29 with corticobasal syndrome, analyzed by repeat\u2010primed polymerase chain reaction; and (2) 341 asymptomatic individuals over 60 from Taiwan Biobank, analyzed via whole\u2010genome sequencing.<\/jats:p><\/jats:sec><jats:sec><jats:title>Results<\/jats:title><jats:p>We identified <jats:italic>NOTCH2NLC<\/jats:italic> expansions (\u226560 repeats) in six patients (2.38%) with atypical parkinsonism (MSA: 4, PSP: 2; range: 102\u2013124) and two asymptomatic individuals (0.58%, range: 63\u2013225). Although more frequent in atypical parkinsonism (<jats:italic>P<\/jats:italic>\u2009=\u20090.07), the difference was not significant. <jats:italic>FMR1<\/jats:italic> expansions were rare in both groups.<\/jats:p><\/jats:sec><jats:sec><jats:title>Conclusions<\/jats:title><jats:p><jats:italic>NOTCH2NLC<\/jats:italic> expansions may mimic PSP and MSA in early stages, warranting careful genetic evaluation. \u00a9 2025 International Parkinson and Movement Disorder Society.<\/jats:p><\/jats:sec>","DOI":"10.1002\/mds.30290","type":"journal-article","created":{"date-parts":[[2025,7,15]],"date-time":"2025-07-15T12:13:37Z","timestamp":1752581617000},"page":"2002-2008","update-policy":"https:\/\/doi.org\/10.1002\/crossmark_policy","source":"Crossref","is-referenced-by-count":4,"title":["Prevalence of <scp><i>NOTCH2NLC<\/i><\/scp> and <scp><i>FMR1<\/i><\/scp> Repeat Expansions in Atypical Parkinsonism Compared to Asymptomatic Elderly Individuals"],"prefix":"10.1002","volume":"40","author":[{"given":"Pin\u2010Shiuan","family":"Chen","sequence":"first","affiliation":[{"name":"Department of Neurology National Taiwan University Hospital  Taipei Taiwan"},{"name":"Graduate Institute of Clinical Medicine, College of Medicine National Taiwan University  Taipei Taiwan"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Yi\u2010Ling","family":"Liu","sequence":"additional","affiliation":[{"name":"Graduate Institute of Medical Genomics and Proteomics, College of Medicine National Taiwan University  Taipei Taiwan"},{"name":"Institute of Molecular Medicine National Taiwan University College of Medicine  Taipei Taiwan"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Pu\u2010Tien","family":"Chiang","sequence":"additional","affiliation":[{"name":"Department of Neurology National Taiwan University Hospital  Taipei Taiwan"},{"name":"Department of Neurology National Taiwan University Hospital Bei\u2010Hu 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