{"status":"ok","message-type":"work","message-version":"1.0.0","message":{"indexed":{"date-parts":[[2026,8,5]],"date-time":"2026-08-05T10:25:38Z","timestamp":1785925538237,"version":"3.56.0"},"reference-count":13,"publisher":"BMJ","issue":"2","license":[{"start":{"date-parts":[[2025,8,11]],"date-time":"2025-08-11T00:00:00Z","timestamp":1754870400000},"content-version":"unspecified","delay-in-days":10,"URL":"http:\/\/creativecommons.org\/licenses\/by-nc\/4.0\/"}],"content-domain":{"domain":["bmj.com"],"crossmark-restriction":true},"short-container-title":["BMJ Neurol Open"],"accepted":{"date-parts":[[2025,7,19]]},"published-print":{"date-parts":[[2025,8]]},"abstract":"<jats:sec>\n                  <jats:title>Introduction<\/jats:title>\n                  <jats:p>Neuronal intranuclear inclusion disease (NIID) is a rare neurodegenerative disorder. Hyperintense signals on diffusion-weighted imaging (DWI) at the corticomedullary junction are key diagnostic features. Early manifestations are often overlooked, leading to misdiagnoses. Here, we report a case of adult-onset NIID with DWI hyperintensities at the corticomedullary junction.<\/jats:p>\n               <\/jats:sec>\n               <jats:sec>\n                  <jats:title>Case presentation<\/jats:title>\n                  <jats:p>A 72-year-old woman presented with progressive memory deterioration starting 9 years ago. In the third year, MRI showed extensive white matter lesions and brain atrophy, with focal high signal intensity in the corticomedullary junction of the frontal lobe; however, this was overlooked. The patient was clinically diagnosed with Alzheimer\u2019s disease. In the seventh year, the patient gradually developed emotional instability, bradykinesia and urinary incontinence. In the eighth year, MRI revealed a remarkable curvilinear DWI hyperintense signal at the corticomedullary junction. Further genetic testing identified 105 GGC repeats in the <jats:italic>NOTCH2NLC<\/jats:italic> gene. Skin biopsy revealed intranuclear inclusions in P62 and ubiquitin-positive fibroblasts, confirming the NIID diagnosis.<\/jats:p>\n               <\/jats:sec>\n               <jats:sec>\n                  <jats:title>Conclusions<\/jats:title>\n                  <jats:p>Patients with NIID show characteristic DWI hyperintensity at the corticomedullary junction during symptoms. This early imaging finding is subtle and often overlooked. For patients with dementia and episodic encephalopathy, observing radiological changes, along with genetic and skin biopsies, is indispensable.<\/jats:p>\n               <\/jats:sec>","DOI":"10.1136\/bmjno-2025-001033","type":"journal-article","created":{"date-parts":[[2025,8,12]],"date-time":"2025-08-12T02:30:56Z","timestamp":1754965856000},"page":"e001033","update-policy":"https:\/\/doi.org\/10.1136\/crossmarkpolicy","source":"Crossref","is-referenced-by-count":3,"title":["Neuronal intranuclear inclusion disease with subtle imaging findings: a case report and literature review"],"prefix":"10.1136","volume":"7","author":[{"ORCID":"https:\/\/orcid.org\/0009-0004-7221-7724","authenticated-orcid":false,"given":"Ziyang","family":"Huang","sequence":"first","affiliation":[{"name":"Zhejiang University School of Medicine Affiliated Mental Health Centre & Hangzhou Seventh People\u2019s Hospital, Hangzhou, China"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Meiduo","family":"Gesang","sequence":"additional","affiliation":[{"name":"Zhejiang University School of Medicine Affiliated Mental Health Centre & Hangzhou Seventh People\u2019s Hospital, Hangzhou, China"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Jiehua","family":"Ma","sequence":"additional","affiliation":[{"name":"Zhejiang University School of Medicine Affiliated Mental Health Centre & Hangzhou Seventh People\u2019s Hospital, Hangzhou, China"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Yuwen","family":"Wang","sequence":"additional","affiliation":[{"name":"Zhejiang University School of Medicine Affiliated Mental Health Centre & Hangzhou Seventh People\u2019s Hospital, Hangzhou, China"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Chenling","family":"Hu","sequence":"additional","affiliation":[{"name":"Zhejiang University School of Medicine Affiliated Mental Health Centre & Hangzhou Seventh People\u2019s Hospital, Hangzhou, China"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Tian","family":"Zhang","sequence":"additional","affiliation":[{"name":"Zhejiang University School of Medicine Affiliated Mental Health Centre & Hangzhou Seventh People\u2019s Hospital, Hangzhou, China"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Xiaoying","family":"Zhang","sequence":"additional","affiliation":[{"name":"Zhejiang University School of Medicine Affiliated Mental Health Centre & Hangzhou Seventh People\u2019s Hospital, Hangzhou, China"}],"role":[{"vocabulary":"crossref","role":"author"}]}],"member":"239","published-online":{"date-parts":[[2025,8,11]]},"reference":[{"key":"2025081119302364000_7.2.e001033.1","doi-asserted-by":"crossref","first-page":"295","DOI":"10.1007\/s00702-021-02313-3","article-title":"Neuronal intranuclear inclusion disease: recognition and 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disease","volume":"201","author":"Tachi","year":"2021","journal-title":"Clin Neurol Neurosurg"},{"key":"2025081119302364000_7.2.e001033.7","doi-asserted-by":"crossref","DOI":"10.1097\/MD.0000000000013544","article-title":"A long time radiological follow-up of neuronal intranuclear inclusion disease","volume":"97","author":"Chen","year":"2018","journal-title":"Medicine (Baltimore)"},{"key":"2025081119302364000_7.2.e001033.8","doi-asserted-by":"crossref","first-page":"243","DOI":"10.1017\/cjn.2021.514","article-title":"The clinical and neuroimaging features of sporadic adult-onset neuronal intranuclear inclusion disease","volume":"50","author":"Ni","year":"2023","journal-title":"Can J Neurol Sci"},{"key":"2025081119302364000_7.2.e001033.9","doi-asserted-by":"crossref","first-page":"2653","DOI":"10.1007\/s10072-020-04385-7","article-title":"A case of adult-onset neuronal intranuclear inclusion disease without abnormal high-intensity signal in the corticomedullary junction in diffusion-weighted imaging","volume":"41","author":"Dong","year":"2020","journal-title":"Neurol Sci"},{"key":"2025081119302364000_7.2.e001033.10","doi-asserted-by":"crossref","first-page":"665","DOI":"10.1093\/jnen\/nlz043","article-title":"Refining the Spectrum of Neuronal Intranuclear Inclusion Disease: A Case Report","volume":"78","author":"Cupidi","year":"2019","journal-title":"J Neuropathol Exp Neurol"},{"key":"2025081119302364000_7.2.e001033.11","doi-asserted-by":"crossref","first-page":"1281","DOI":"10.1007\/s00234-019-02257-2","article-title":"Identifying patients with neuronal intranuclear inclusion disease in Singapore using characteristic diffusion-weighted MR images","volume":"61","author":"Yu","year":"2019","journal-title":"Neuroradiology"},{"key":"2025081119302364000_7.2.e001033.12","doi-asserted-by":"crossref","first-page":"153","DOI":"10.1007\/s00234-020-02543-4","article-title":"Distinctive diffusion-weighted imaging features in late-onset genetic leukoencephalopathies","volume":"63","author":"De Cocker","year":"2021","journal-title":"Neuroradiology"},{"key":"2025081119302364000_7.2.e001033.13","doi-asserted-by":"crossref","first-page":"1231","DOI":"10.1148\/rg.2019190028","article-title":"Persistent Diffusion-weighted Imaging Abnormalities in Adult Leukodystrophies","volume":"39","author":"De Cocker","year":"2019","journal-title":"Radiographics"}],"container-title":["BMJ Neurology 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