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A CGG repeat expansion in <jats:italic>NOTCH2NLC<\/jats:italic> was recently identified to be associated with NIID in patients of Japanese descent. We screened pathologically confirmed European NIID, cases of neurodegenerative disease with intranuclear inclusions and applied in silico\u2010based screening using whole\u2010genome sequencing data from 20\u00a0536 participants in the 100\u00a0000 Genomes Project. We identified a single European case harbouring the pathogenic repeat expansion with a distinct haplotype structure. Thus, we propose new diagnostic criteria as European NIID represents a distinct disease entity from East Asian cases.<\/jats:p>","DOI":"10.1002\/acn3.51151","type":"journal-article","created":{"date-parts":[[2020,8,10]],"date-time":"2020-08-10T22:35:16Z","timestamp":1597098916000},"page":"1716-1725","update-policy":"https:\/\/doi.org\/10.1002\/crossmark_policy","source":"Crossref","is-referenced-by-count":63,"title":["Neuronal intranuclear inclusion disease is genetically heterogeneous"],"prefix":"10.1002","volume":"7","author":[{"ORCID":"https:\/\/orcid.org\/0000-0001-6668-7202","authenticated-orcid":false,"given":"Zhongbo","family":"Chen","sequence":"first","affiliation":[{"name":"Department of Neurodegenerative Disease Queen Square Institute of Neurology University College London (UCL) London UK"},{"name":"Department of Neuromuscular Disease Queen Square Institute of Neurology UCL London 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