{"status":"ok","message-type":"work","message-version":"1.0.0","message":{"indexed":{"date-parts":[[2026,10,7]],"date-time":"2026-10-07T17:51:01Z","timestamp":1791395461487,"version":"4.3.3"},"reference-count":54,"publisher":"Wiley","issue":"3","license":[{"start":{"date-parts":[[2026,9,27]],"date-time":"2026-09-27T00:00:00Z","timestamp":1790467200000},"content-version":"vor","delay-in-days":88,"URL":"http:\/\/creativecommons.org\/licenses\/by-nc\/4.0\/"},{"start":{"date-parts":[[2026,7,1]],"date-time":"2026-07-01T00:00:00Z","timestamp":1782864000000},"content-version":"tdm","delay-in-days":0,"URL":"http:\/\/doi.wiley.com\/10.1002\/tdm_license_1.1"}],"funder":[{"DOI":"10.13039\/100007449","name":"Takeda Science Foundation","doi-asserted-by":"publisher","id":[{"id":"10.13039\/100007449","id-type":"DOI","asserted-by":"publisher"}]},{"DOI":"10.13039\/501100003653","name":"Korea National Institute of Health","doi-asserted-by":"publisher","award":["2021\u2010ER1004\u201001"],"award-info":[{"award-number":["2021\u2010ER1004\u201001"]}],"id":[{"id":"10.13039\/501100003653","id-type":"DOI","asserted-by":"publisher"}]},{"DOI":"10.13039\/501100003653","name":"Korea National Institute of Health","doi-asserted-by":"publisher","award":["2024\u2010ER1001\u201000"],"award-info":[{"award-number":["2024\u2010ER1001\u201000"]}],"id":[{"id":"10.13039\/501100003653","id-type":"DOI","asserted-by":"publisher"}]},{"DOI":"10.13039\/501100004359","name":"Vetenskapsr\u00e5det","doi-asserted-by":"publisher","award":["#2023\u201000356"],"award-info":[{"award-number":["#2023\u201000356"]}],"id":[{"id":"10.13039\/501100004359","id-type":"DOI","asserted-by":"publisher"}]},{"DOI":"10.13039\/501100004359","name":"Vetenskapsr\u00e5det","doi-asserted-by":"publisher","award":["#2022\u201001018"],"award-info":[{"award-number":["#2022\u201001018"]}],"id":[{"id":"10.13039\/501100004359","id-type":"DOI","asserted-by":"publisher"}]},{"DOI":"10.13039\/501100004359","name":"Vetenskapsr\u00e5det","doi-asserted-by":"publisher","award":["#2019\u201002397"],"award-info":[{"award-number":["#2019\u201002397"]}],"id":[{"id":"10.13039\/501100004359","id-type":"DOI","asserted-by":"publisher"}]}],"content-domain":{"domain":["alz-journals.onlinelibrary.wiley.com"],"crossmark-restriction":true},"short-container-title":["Alz &amp;amp; Dem Diag Ass &amp;amp; Dis Mo"],"published-print":{"date-parts":[[2026,7]]},"abstract":"<jats:title>Abstract<\/jats:title>\n                  <jats:sec>\n                    <jats:title>BACKGROUND<\/jats:title>\n                    <jats:p>\n                      Neuronal intranuclear inclusion disease (NIID) is neurodegenerative disorder caused by GGC repeat expansion in\n                      <jats:italic>NOTCH2NLC<\/jats:italic>\n                      . Given its frequency in young East Asian adults and overlap with cognitive impairment in young adults, a key feature of early\u2010onset dementia (EOD), we screened\n                      <jats:italic>NOTCH2NLC<\/jats:italic>\n                      GGC repeat expansions in Korean patients with EOD.\n                    <\/jats:p>\n                  <\/jats:sec>\n                  <jats:sec>\n                    <jats:title>METHODS<\/jats:title>\n                    <jats:p>\n                      We screened\n                      <jats:italic>NOTCH2NLC<\/jats:italic>\n                      GGC repeat expansions in 410 Korean patients with EOD using repeat\u2010primed and amplicon length polymerase chain reaction. Plasma biomarkers in adult\u2010onset leukodystrophy were additionally measured using Simoa\u2010based ultrasensitive immunoassays.\n                    <\/jats:p>\n                  <\/jats:sec>\n                  <jats:sec>\n                    <jats:title>RESULTS<\/jats:title>\n                    <jats:p>GGC repeat expansions were not identified in early\u2010onset Alzheimer's disease (AD) or frontotemporal dementia (FTD), while four of eleven patients with adult\u2010onset leukodystrophy (36.3%) had abnormal expansions. Plasma neurofilament light chain (NfL) level was lower in NIID than in colony\u2010stimulating factor 1 receptor\u2013related disorder.<\/jats:p>\n                  <\/jats:sec>\n                  <jats:sec>\n                    <jats:title>DISCUSSION<\/jats:title>\n                    <jats:p>\n                      These findings support recent arguments that the concept of\n                      <jats:italic>NOTCH2NLC<\/jats:italic>\n                      \u2010related GGC repeat expansion disorder (NRED) should be reconsidered. Plasma NfL may be useful in differential diagnosis of adult\u2010onset leukodystrophy.\n                    <\/jats:p>\n                  <\/jats:sec>","DOI":"10.1002\/dad2.70482","type":"journal-article","created":{"date-parts":[[2026,9,27]],"date-time":"2026-09-27T14:52:55Z","timestamp":1790520775000},"update-policy":"https:\/\/doi.org\/10.1002\/crossmark_policy","source":"Crossref","is-referenced-by-count":0,"title":["Screening GGC repeat expansion in the\n                    <i>NOTCH2NLC<\/i>\n                    in early\u2010onset dementia: The Longitudinal Study of Early Onset Dementia and Family Members (LEAF) Study"],"prefix":"10.1002","volume":"18","author":[{"ORCID":"https:\/\/orcid.org\/0009-0008-2462-0032","authenticated-orcid":false,"given":"Seung\u2010yeon","family":"Lee","sequence":"first","affiliation":[{"name":"Department of Health Sciences and Technology, SAIHST Sungkyunkwan University  Seoul Republic of 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Hanyang University College of Medicine  Seoul Republic of Korea"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Cho","family":"Hanna","sequence":"additional","affiliation":[{"name":"Department of Neurology, Gangnam Severance Hospital Yonsei University College of Medicine  Seoul Republic of Korea"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Won\u2010Joo","family":"Kim","sequence":"additional","affiliation":[{"name":"Department of Neurology, Gangnam Severance Hospital Yonsei University College of Medicine  Seoul Republic of Korea"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Gha\u2010Hyun","family":"Lee","sequence":"additional","affiliation":[{"name":"Department of Neurology Pusan National University Hospital, Pusan National University School of Medicine and Medical Research Institute  Busan Republic of 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Apostolova","sequence":"additional","affiliation":[{"name":"Department of Neurology Indiana University School of Medicine  Indianapolis Indiana USA"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Naomichi","family":"Matsumoto","sequence":"additional","affiliation":[{"name":"Department of Human Genetics Yokohama City University Graduate School of Medicine  Yokohama Japan"},{"name":"Department of Rare Disease Genomics Yokohama City University Hospital  Yokohama Japan"},{"name":"Department of Clinical Genetics Yokohama City University Hospital  Yokohama Japan"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"ORCID":"https:\/\/orcid.org\/0000-0002-1025-1968","authenticated-orcid":false,"given":"So Young","family":"Moon","sequence":"additional","affiliation":[{"name":"Department of Neurology Ajou University School of Medicine  Suwon Republic of 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&amp; Dementia: Diagnosis, Assessment &amp; Disease 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