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Recently, this repeat expansion was also reported to be associated with essential tremor (ET). However, some patients with this repeat expansion, initially diagnosed with ET, were eventually diagnosed with NIID. Therefore, controversy remains regarding the clinical diagnosis of these expansion\u2010positive patients presenting with tremor\u2010dominant symptoms. This study aimed to clarify the clinical phenotype in tremor\u2010dominant patients who have the GGC repeat expansion in the <jats:italic>NOTCH2NLC<\/jats:italic> gene.<\/jats:p><\/jats:sec><jats:sec><jats:title>Methods<\/jats:title><jats:p>We screened for pathogenic GGC repeat expansions in 602 patients initially diagnosed with ET and systematically re\u2010evaluated the clinical features of the expansion\u2010positive probands and their family members.<\/jats:p><\/jats:sec><jats:sec><jats:title>Results<\/jats:title><jats:p>Pathogenic GGC repeat expansion in the <jats:italic>NOTCH2NLC<\/jats:italic> gene was detected in 10 probands (1.66%). Seven of these probands were re\u2010evaluated and found to have systemic areflexia, cognitive impairment, and abnormal nerve conduction, which prompted a change of diagnosis from ET to NIID. Three of the probands had typical hyperintensity in the corticomedullary junction on diffusion\u2010weighted imaging. Intranuclear inclusions were detected in all four probands who underwent skin biopsy.<\/jats:p><\/jats:sec><jats:sec><jats:title>Conclusions<\/jats:title><jats:p>The NIID tremor\u2010dominant subtype can be easily misdiagnosed as ET. We should take NIID into account for differential diagnosis of ET. Systemic areflexia could be an important clinical clue suggesting that cranial magnetic resonance imaging examination, or even further genetic testing and skin biopsy examination, should be used to confirm the diagnosis of NIID.<\/jats:p><\/jats:sec>","DOI":"10.1111\/ene.15169","type":"journal-article","created":{"date-parts":[[2021,11,9]],"date-time":"2021-11-09T09:06:50Z","timestamp":1636448810000},"page":"450-458","update-policy":"https:\/\/doi.org\/10.1002\/crossmark_policy","source":"Crossref","is-referenced-by-count":27,"title":["Neuronal intranuclear inclusion disease tremor\u2010dominant subtype: A mimicker of essential tremor"],"prefix":"10.1111","volume":"29","author":[{"ORCID":"https:\/\/orcid.org\/0000-0002-4129-9761","authenticated-orcid":false,"given":"Dehao","family":"Yang","sequence":"first","affiliation":[{"name":"Department of Neurology Second Affiliated Hospital Zhejiang University School of Medicine Hangzhou Zhejiang China"},{"name":"Cancer Institute Key Laboratory 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