{"status":"ok","message-type":"work","message-version":"1.0.0","message":{"indexed":{"date-parts":[[2026,9,27]],"date-time":"2026-09-27T05:30:24Z","timestamp":1790487024895,"version":"4.1.0"},"reference-count":14,"publisher":"Wiley","issue":"3","license":[{"start":{"date-parts":[[2020,7,16]],"date-time":"2020-07-16T00:00:00Z","timestamp":1594857600000},"content-version":"vor","delay-in-days":0,"URL":"http:\/\/onlinelibrary.wiley.com\/termsAndConditions#vor"}],"funder":[{"DOI":"10.13039\/501100001349","name":"National Medical Research Council","doi-asserted-by":"publisher","award":["LCG002"],"award-info":[{"award-number":["LCG002"]}],"id":[{"id":"10.13039\/501100001349","id-type":"DOI","asserted-by":"publisher"}]},{"DOI":"10.13039\/501100007037","name":"Ministry of Health","doi-asserted-by":"publisher","id":[{"id":"10.13039\/501100007037","id-type":"DOI","asserted-by":"publisher"}]},{"DOI":"10.13039\/100005622","name":"Health Research","doi-asserted-by":"publisher","id":[{"id":"10.13039\/100005622","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":[[2020,9]]},"abstract":"<jats:p>We screened 662 subjects comprising 462 essential tremor (ET) subjects (285 sporadic, 125 with family history, and 52 probands from well\u2010characterized ET pedigrees) and 200 controls and identified pathogenic <jats:italic>NOTCH2NLC<\/jats:italic> GGC repeat expansions in 4 sporadic ET patients. Two patients were followed up for &gt;1 decade; one with 90 repeats remained an ET phenotype that did not evolve after 40\u2009years, whereas another patient with 107 repeats developed motor symptoms and cognitive impairment after 8 to 10\u2009years. Neuroimaging in this patient revealed severe leukoencephalopathy; diffusion\u2010weighted imaging hyperintensity in the corticomedullary junction and skin biopsy revealed intranuclear inclusions suggestive of intranuclear inclusion body disease (NIID). No GGC repeats of &gt;60\u2009units were detected in familial ET cases and controls, although 4 ET patients carried 47 to 53 \u201cintermediate\u201d repeats. <jats:italic>NOTCH2NLC<\/jats:italic> GGC repeat expansions can be associated with sporadic ET. Carriers presenting with a pure ET phenotype may or may not convert to NIID up to 4 decades after initial tremor onset. ANN NEUROL 2020;88:614\u2013618<\/jats:p>","DOI":"10.1002\/ana.25803","type":"journal-article","created":{"date-parts":[[2020,6,4]],"date-time":"2020-06-04T08:10:06Z","timestamp":1591258206000},"page":"614-618","update-policy":"https:\/\/doi.org\/10.1002\/crossmark_policy","source":"Crossref","is-referenced-by-count":48,"title":["<scp><i>NOTCH2NLC<\/i> GGC<\/scp> Repeat Expansions Are Associated with Sporadic Essential Tremor: Variable Disease Expressivity on Long\u2010Term Follow\u2010up"],"prefix":"10.1002","volume":"88","author":[{"given":"Adeline S. 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