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The clinical presentation of this disease is diverse, manifesting as headaches, fever, altered consciousness, dementia, seizures, sensory and motor disturbances, and autonomic dysfunction, making it prone to misdiagnosis in clinical practice. This article reports a case of NIID diagnosed through skin biopsy and genetic testing, along with a review of relevant literature. It provides an overview of the characteristics and diagnosis of NIID, emphasizing the importance of early diagnosis and comprehensive treatment in managing this rare neurological disorder.<\/jats:p>","DOI":"10.1155\/crnm\/3279987","type":"journal-article","created":{"date-parts":[[2026,7,9]],"date-time":"2026-07-09T05:53:55Z","timestamp":1783576435000},"update-policy":"https:\/\/doi.org\/10.1002\/crossmark_policy","source":"Crossref","is-referenced-by-count":0,"title":["Neuronal Intranuclear Inclusion Disease: A Case Report With Insights Into Clinical Features and Potential Therapeutic Implications"],"prefix":"10.1155","volume":"2026","author":[{"given":"Lingqiong","family":"Xia","sequence":"first","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Jianhua","family":"Chen","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Fuying","family":"Liu","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Fei","family":"Feng","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"ORCID":"https:\/\/orcid.org\/0000-0002-1910-6660","authenticated-orcid":false,"given":"Nanqu","family":"Huang","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"ORCID":"https:\/\/orcid.org\/0000-0002-1313-7423","authenticated-orcid":false,"given":"Yong","family":"Luo","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]}],"member":"311","published-online":{"date-parts":[[2026,7,8]]},"reference":[{"key":"e_1_2_8_1_2","doi-asserted-by":"publisher","DOI":"10.1007\/s00702-021-02313-3"},{"key":"e_1_2_8_2_2","doi-asserted-by":"publisher","DOI":"10.1212\/wnl.0b013e3182166e13"},{"key":"e_1_2_8_3_2","doi-asserted-by":"publisher","DOI":"10.1038\/s41588-019-0459-y"},{"key":"e_1_2_8_4_2","doi-asserted-by":"publisher","DOI":"10.1136\/jnnp-2022-329772"},{"key":"e_1_2_8_5_2","doi-asserted-by":"publisher","DOI":"10.1111\/ggi.12725"},{"key":"e_1_2_8_6_2","doi-asserted-by":"publisher","DOI":"10.3389\/fnagi.2022.934725"},{"key":"e_1_2_8_7_2","doi-asserted-by":"publisher","DOI":"10.1007\/s10072-023-06677-0"},{"key":"e_1_2_8_8_2","doi-asserted-by":"publisher","DOI":"10.1212\/nxg.0000000000200057"},{"key":"e_1_2_8_9_2","first-page":"219","article-title":"Neuronal Intranuclear Inclusion Disease: The Clinical Features and Pathological Findings of Peripheral Tissue Biopsy in Nine Cases With Genetic Diagnosis","volume":"54","author":"Gu M.","year":"2021","journal-title":"Chinese Journal of Neurology"},{"key":"e_1_2_8_10_2","article-title":"Neuronal Intranuclear Inclusion Disease With Mental Abnormality: A Case Report","volume":"20","author":"Xiaosa C.","year":"2020","journal-title":"BMC Neurology"},{"key":"e_1_2_8_11_2","article-title":"Multiple Reversible Encephalitic Attacks: A Rare Manifestation of Neuronal Intranuclear Inclusion Disease","volume":"20","author":"Mingming L.","year":"2020","journal-title":"BMC Neurology"},{"key":"e_1_2_8_12_2","doi-asserted-by":"publisher","DOI":"10.1097\/rlu.0000000000005325"},{"key":"e_1_2_8_13_2","doi-asserted-by":"publisher","DOI":"10.3389\/fnins.2024.1448918"},{"key":"e_1_2_8_14_2","doi-asserted-by":"publisher","DOI":"10.1093\/brain\/aww249"},{"key":"e_1_2_8_15_2","doi-asserted-by":"publisher","DOI":"10.1002\/acn3.51189"},{"key":"e_1_2_8_16_2","doi-asserted-by":"publisher","DOI":"10.5414\/NP300961"},{"key":"e_1_2_8_17_2","article-title":"Over 10 Years MRI Observation of a Patient With Neuronal Intranuclear Inclusion Disease","volume":"2017","author":"Kazuo A.","year":"2017","journal-title":"BMJ Case Reports"},{"key":"e_1_2_8_18_2","doi-asserted-by":"publisher","DOI":"10.1186\/s12883-022-03025-1"},{"key":"e_1_2_8_19_2","doi-asserted-by":"publisher","DOI":"10.1136\/jnnp-2013-306084"},{"key":"e_1_2_8_20_2","doi-asserted-by":"publisher","DOI":"10.1046\/j.1440-1789.2003.00524.x"},{"key":"e_1_2_8_21_2","article-title":"P62\/SQSTM1 at the Interface of Aging, Autophagy, and Disease","volume":"36","author":"Alessandro B.","year":"2014","journal-title":"Age"},{"key":"e_1_2_8_22_2","article-title":"Proteomic Profile of Nuclei Containing p62-Positive Inclusions in a Patient With Neuronal Intranuclear Inclusion Disease","volume":"177","author":"Masanori K.","year":"2023","journal-title":"Neurobiology of Disease"},{"key":"e_1_2_8_23_2","doi-asserted-by":"publisher","DOI":"10.1038\/s41588-019-0458-z"},{"key":"e_1_2_8_24_2","doi-asserted-by":"publisher","DOI":"10.1016\/j.ajhg.2019.05.013"},{"key":"e_1_2_8_25_2","first-page":"1757","article-title":"Fragile X Premutation Carriers: Characteristic MR Imaging Findings of Adult Male Patients With Progressive Cerebellar and Cognitive Dysfunction","volume":"23","author":"Brunberg J. 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