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There is a considerable delay in the definite diagnosis, which primarily depends on postmortem brain pathological examination. Although CGG repeat expansion in the 5\u2032\u2010untranslated region of <jats:italic>NOTCH2NLC<\/jats:italic> has been identified as a disease\u2010associated variant, the pathological diagnosis is still required in certain NIID cases. Intranuclear inclusions found in the skin tissue of patients with NIID dramatically increased its early detection rate. Skin biopsy, as a minimally invasive method, has become widely accepted as a routine examination to confirm the pathogenicity of the repeat expansion in patients with suspected NIID. In addition, the shared developmental origin of the skin and nerve system provided a new insight into the pathological changes observed in patients with NIID. In this review, we systematically discuss the role of skin biopsy for NIID diagnosis, the procedure of skin biopsy, and the pathophysiological mechanism of intranuclear inclusion in the skin.<\/jats:p>","DOI":"10.1111\/1346-8138.16966","type":"journal-article","created":{"date-parts":[[2023,9,18]],"date-time":"2023-09-18T07:13:25Z","timestamp":1695021205000},"page":"1367-1372","update-policy":"https:\/\/doi.org\/10.1002\/crossmark_policy","source":"Crossref","is-referenced-by-count":8,"title":["Skin biopsy and neuronal intranuclear inclusion disease"],"prefix":"10.1111","volume":"50","author":[{"ORCID":"https:\/\/orcid.org\/0000-0002-4639-790X","authenticated-orcid":false,"given":"Xiao","family":"Ren","sequence":"first","affiliation":[{"name":"Department of Neurology The First Affiliated Hospital of Nanchang University  Nanchang China"},{"name":"Multidisciplinary collaborative group for cutaneous neuropathology The First Affiliated Hospital of Nanchang University  Nanchang 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