{"status":"ok","message-type":"work","message-version":"1.0.0","message":{"indexed":{"date-parts":[[2026,6,26]],"date-time":"2026-06-26T22:51:29Z","timestamp":1782514289318,"version":"3.54.5"},"reference-count":52,"publisher":"Wiley","issue":"4","license":[{"start":{"date-parts":[[2025,6,24]],"date-time":"2025-06-24T00:00:00Z","timestamp":1750723200000},"content-version":"vor","delay-in-days":0,"URL":"http:\/\/onlinelibrary.wiley.com\/termsAndConditions#vor"}],"funder":[{"DOI":"10.13039\/501100001809","name":"National Natural Science Foundation of China","doi-asserted-by":"publisher","award":["82230039"],"award-info":[{"award-number":["82230039"]}],"id":[{"id":"10.13039\/501100001809","id-type":"DOI","asserted-by":"publisher"}]},{"DOI":"10.13039\/501100001809","name":"National Natural Science Foundation of China","doi-asserted-by":"publisher","award":["82371879"],"award-info":[{"award-number":["82371879"]}],"id":[{"id":"10.13039\/501100001809","id-type":"DOI","asserted-by":"publisher"}]},{"DOI":"10.13039\/501100005270","name":"Fujian Provincial Department of Science and Technology","doi-asserted-by":"publisher","award":["2021Y9128"],"award-info":[{"award-number":["2021Y9128"]}],"id":[{"id":"10.13039\/501100005270","id-type":"DOI","asserted-by":"publisher"}]}],"content-domain":{"domain":["onlinelibrary.wiley.com"],"crossmark-restriction":true},"short-container-title":["Annals of Neurology"],"published-print":{"date-parts":[[2025,10]]},"abstract":"<jats:sec>\n                    <jats:title>Objective<\/jats:title>\n                    <jats:p>\n                      Dentatorubral\u2013pallidoluysian atrophy (DRPLA) is a rare, inherited neurodegenerative disorder caused by the expansion of cytosine\u2013adenine\u2013guanine repeats in\n                      <jats:italic>ATN1<\/jats:italic>\n                      . Most studies on DRPLA to date are limited to case reports. We aimed to provide a comprehensive summary of the clinical, genetic, biological, and magnetic resonance imaging characteristics of DRPLA using cross\u2010sectional baseline data.\n                    <\/jats:p>\n                  <\/jats:sec>\n                  <jats:sec>\n                    <jats:title>Methods<\/jats:title>\n                    <jats:p>This is a cross\u2010sectional observational cohort study. We used an extensive battery of assessments, included clinical phenotypes, genotypes, cognitive performance, biological markers, and magnetic resonance imaging characteristics.<\/jats:p>\n                  <\/jats:sec>\n                  <jats:sec>\n                    <jats:title>Results<\/jats:title>\n                    <jats:p>\n                      We enrolled 116 DRPLA patients, including 96 manifest patients and 20 prodromal patients. We identified a previously unreported\n                      <jats:italic>ATN1<\/jats:italic>\n                      haplotype consisting of 8 single\u2010nucleotide polymorphisms. Cognitive assessments revealed that 51 manifest patients (96%) and 4 prodromal patients (29%) scored &lt;26 on the Montreal Cognitive Assessment. Manifest patients showed impairments across all cognitive domains, whereas prodromal patients showed deficits only in phonemic fluency. Biological analyses showed significantly elevated plasma neurofilament light levels in manifest patients compared with prodromal patients (\n                      <jats:italic>P<\/jats:italic>\n                      \u2009&lt;\u20090.001) and healthy controls (\n                      <jats:italic>P<\/jats:italic>\n                      \u2009&lt;\u20090.001). Magnetic resonance imaging findings revealed widespread gray matter loss across the whole brain in manifest patients, whereas prodromal patients showed gray matter loss localized to the bilateral cerebellar hemispheres.\n                    <\/jats:p>\n                  <\/jats:sec>\n                  <jats:sec>\n                    <jats:title>Interpretation<\/jats:title>\n                    <jats:p>This is the first DRPLA cohort study to comprehensively report clinical, genetic, cognitive, imaging, and plasma neurofilament light data. This study provides robust data to enhance our understanding of the overall features of DRPLA. We also propose clear definitions for the preclinical stage of DRPLA, and demonstrate the high diagnostic utility of plasma neurofilament light as a biomarker. ANN NEUROL 2025;98:750\u2013761<\/jats:p>\n                  <\/jats:sec>","DOI":"10.1002\/ana.27293","type":"journal-article","created":{"date-parts":[[2025,6,24]],"date-time":"2025-06-24T06:20:38Z","timestamp":1750746038000},"page":"750-761","update-policy":"https:\/\/doi.org\/10.1002\/crossmark_policy","source":"Crossref","is-referenced-by-count":2,"title":["Clinical and Genetic Findings in a Chinese Cohort of Dentatorubral\u2013Pallidoluysian Atrophy Patients"],"prefix":"10.1002","volume":"98","author":[{"ORCID":"https:\/\/orcid.org\/0000-0001-8438-1899","authenticated-orcid":false,"given":"Ru\u2010Ying","family":"Yuan","sequence":"first","affiliation":[{"name":"Department of Neurology, the First Affiliated Hospital, Institute of Neuroscience, Fujian Key Laboratory of Molecular Neurology Fujian Medical University  Fuzhou China"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Ya\u2010Fang","family":"Chen","sequence":"additional","affiliation":[{"name":"Department of 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