{"status":"ok","message-type":"work","message-version":"1.0.0","message":{"indexed":{"date-parts":[[2026,9,28]],"date-time":"2026-09-28T03:13:38Z","timestamp":1790565218990,"version":"4.1.0"},"reference-count":18,"publisher":"Frontiers Media SA","license":[{"start":{"date-parts":[[2024,2,9]],"date-time":"2024-02-09T00:00:00Z","timestamp":1707436800000},"content-version":"vor","delay-in-days":0,"URL":"https:\/\/creativecommons.org\/licenses\/by\/4.0\/"}],"content-domain":{"domain":["frontiersin.org"],"crossmark-restriction":true},"short-container-title":["Front. Neurol."],"abstract":"<jats:p>Neuronal intranuclear inclusion disease (NIID) is a rare, progressive neurodegenerative disorder known for its diverse clinical manifestations. Although episodic neurogenic events can be associated with NIID, no reported cases have demonstrated concurrent clinical features or MRI findings resembling reversible cerebral vasoconstriction syndrome (RCVS). Here, we present the inaugural case of an adult-onset NIID patient who initially displayed symptoms reminiscent of RCVS. The 59-year-old male patient\u2019s initial presentation included a thunderclap headache, right visual field deficit, and confusion. Although his brain MRI appeared normal, MR angiography unveiled left posterior cerebral artery occlusion, subsequently followed by recanalization, culminating in an RCVS diagnosis. Over an 11-year period, the patient encountered 10 additional episodes, each escalating in duration and intensity, accompanied by seizures. Simultaneously, cognitive impairment progressed. Genetic testing for NIID revealed an abnormal expansion of GGC repeats in <jats:italic>NOTCH2NLC<\/jats:italic>, with a count of 115 (normal range, &amp;lt;60), and this patient was diagnosed with NIID. Our report highlights that NIID can clinically and radiologically mimic RCVS. Therefore, in the differential diagnosis of RCVS, particularly in cases with atypical features or recurrent episodes, consideration of NIID is warranted. Additionally, the longitudinal neuroimaging findings provided the course of NIID over an 11-year follow-up period.<\/jats:p>","DOI":"10.3389\/fneur.2024.1347646","type":"journal-article","created":{"date-parts":[[2024,2,9]],"date-time":"2024-02-09T04:27:38Z","timestamp":1707452858000},"update-policy":"https:\/\/doi.org\/10.3389\/crossmark-policy","source":"Crossref","is-referenced-by-count":5,"title":["Case report: Neuronal intranuclear inclusion disease initially mimicking reversible cerebral vasoconstriction syndrome: serial neuroimaging findings during an 11-year follow-up"],"prefix":"10.3389","volume":"15","author":[{"given":"Gha-Hyun","family":"Lee","sequence":"first","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Eugene","family":"Jung","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Na-Yeon","family":"Jung","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Takeshi","family":"Mizuguchi","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Naomichi","family":"Matsumoto","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Eun-Joo","family":"Kim","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]}],"member":"1965","published-online":{"date-parts":[[2024,2,9]]},"reference":[{"key":"ref1","doi-asserted-by":"publisher","first-page":"3170","DOI":"10.1093\/brain\/aww249","article-title":"Clinicopathological features of adult-onset neuronal intranuclear inclusion disease","volume":"139","author":"Sone","year":"2016","journal-title":"Brain"},{"key":"ref2","doi-asserted-by":"publisher","first-page":"e13544","DOI":"10.1097\/MD.0000000000013544","article-title":"A long time radiological follow-up of neuronal intranuclear inclusion disease: two case reports","volume":"97","author":"Chen","year":"2018","journal-title":"Medicine"},{"key":"ref3","doi-asserted-by":"publisher","first-page":"837844","DOI":"10.3389\/fneur.2022.837844","article-title":"A case report of neuronal Intranuclear inclusion disease presenting with recurrent migraine-like attacks and cerebral edema: a mimicker of MELAS","volume":"13","author":"Xie","year":"2022","journal-title":"Front Neurol"},{"key":"ref4","doi-asserted-by":"publisher","first-page":"962","DOI":"10.1002\/ana.25586","article-title":"GGC repeat expansion of NOTCH2NLC in adult patients with 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of neuronal intranuclear inclusion disease with recurrent vomiting and without apparent DWI abnormality for the first seven years","volume":"6","author":"Okamura","year":"2020","journal-title":"Heliyon"},{"key":"ref15","doi-asserted-by":"publisher","first-page":"375","DOI":"10.5414\/NP300961","article-title":"Pathological background of subcortical hyperintensities on diffusion-weighted images in a case of neuronal intranuclear inclusion disease","volume":"35","author":"Yokoi","year":"2016","journal-title":"Clin Neuropathol"},{"key":"ref16","doi-asserted-by":"publisher","first-page":"66","DOI":"10.1111\/neup.12778","article-title":"An autopsy case of adult-onset neuronal intranuclear inclusion disease with perivascular preservation in cerebral white matter","volume":"42","author":"Yoshii","year":"2022","journal-title":"Neuropathology"},{"key":"ref17","doi-asserted-by":"publisher","first-page":"100127","DOI":"10.1016\/j.cccb.2022.100127","article-title":"Perfusion abnormality in neuronal intranuclear inclusion disease with stroke-like episode: a case report","volume":"3","author":"Kutsuna","year":"2022","journal-title":"Cereb Circ Cogn Behav"},{"key":"ref18","doi-asserted-by":"publisher","first-page":"166","DOI":"10.1016\/j.ajhg.2019.05.013","article-title":"Expansion of human-specific GGC repeat in neuronal Intranuclear inclusion disease-related disorders","volume":"105","author":"Tian","year":"2019","journal-title":"Am J Hum Genet"}],"container-title":["Frontiers in 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