{"status":"ok","message-type":"work","message-version":"1.0.0","message":{"indexed":{"date-parts":[[2026,1,14]],"date-time":"2026-01-14T18:24:26Z","timestamp":1768415066185,"version":"3.49.0"},"reference-count":23,"publisher":"MDPI AG","issue":"6","license":[{"start":{"date-parts":[[2022,6,14]],"date-time":"2022-06-14T00:00:00Z","timestamp":1655164800000},"content-version":"vor","delay-in-days":0,"URL":"https:\/\/creativecommons.org\/licenses\/by\/4.0\/"}],"funder":[{"name":"the Science and Technology Program of Shaanxi Province","award":["2021SF333"],"award-info":[{"award-number":["2021SF333"]}]}],"content-domain":{"domain":[],"crossmark-restriction":false},"short-container-title":["Brain Sciences"],"abstract":"<jats:p>Neuronal intranuclear inclusion disease (NIID) is a rare and slowly progressive neurodegenerative disease characterized by the presence of eosinophilic neuronal intranuclear inclusions. The clinical manifestations of NIID are diverse, and the most common initial feature in cases of sporadic NIID is dementia. Herein, we report an adult female with keratitis as the initial presentation with subsequent bilateral limb tremor, gait disturbances, overemotional behavior, sweating and constipation. Diffusion-weighted imaging (DWI) showed hyperintensity in the bilateral fronto-parieto-occipital corticomedullary junction. Skin biopsy specimens revealed eosinophilic hyaline intranuclear inclusions in fibroblast cells, sweat gland cells and adipose cells. In vivo confocal microscopy of the cornea indicated the absence of corneal nerves in both affected eyes. The patient\u2019s diagnosis of NIID was based on the presence of intranuclear inclusions in biopsied skin and the characteristic high-intensity signal in the corticomedullary junction obtained with DWI. This case report emphasizes that the clinical heterogeneity of NIID and an examination of the corneal nerves may offer valuable clues to its early diagnosis in some patients.<\/jats:p>","DOI":"10.3390\/brainsci12060782","type":"journal-article","created":{"date-parts":[[2022,6,14]],"date-time":"2022-06-14T23:50:14Z","timestamp":1655250614000},"page":"782","update-policy":"https:\/\/doi.org\/10.3390\/mdpi_crossmark_policy","source":"Crossref","is-referenced-by-count":2,"title":["Neuronal Intranuclear Inclusion Disease-Related Neurotrophic Keratitis: A Case Report"],"prefix":"10.3390","volume":"12","author":[{"given":"Pei","family":"Liu","sequence":"first","affiliation":[{"name":"Department of Neuro-Ophthalmology, The First Affiliated Hospital of Northwest University, Xi\u2019an 710082, China"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Xuemei","family":"Lin","sequence":"additional","affiliation":[{"name":"Department of Neuro-Ophthalmology, The First Affiliated Hospital of Northwest University, Xi\u2019an 710082, China"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Xiangjun","family":"Chen","sequence":"additional","affiliation":[{"name":"Department of Ophthalmology, S\u00f8rlandet Hospital Arendal, 4838 Arendal, Norway"},{"name":"Department of Ophthalmology, Vestre Viken Hospital Trust, 3004 Drammen, Norway"},{"name":"Department of Medical Biochemistry, Oslo University Hospital, 0450 Oslo, Norway"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Tor Paaske","family":"Utheim","sequence":"additional","affiliation":[{"name":"Department of Ophthalmology, S\u00f8rlandet Hospital Arendal, 4838 Arendal, Norway"},{"name":"Department of Ophthalmology, Vestre Viken Hospital Trust, 3004 Drammen, Norway"},{"name":"Department of Medical Biochemistry, Oslo University Hospital, 0450 Oslo, Norway"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Wei","family":"Gao","sequence":"additional","affiliation":[{"name":"Department of Ophthalmology, Xi\u2019an People\u2019s Hospital, Xi\u2019an 710100, China"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Yan","family":"Yan","sequence":"additional","affiliation":[{"name":"Department of Pathology, The First Affiliated Hospital of Northwest University, Xi\u2019an 710082, China"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"ORCID":"https:\/\/orcid.org\/0000-0003-1186-3322","authenticated-orcid":false,"given":"Songdi","family":"Wu","sequence":"additional","affiliation":[{"name":"Department of Neuro-Ophthalmology, The First Affiliated Hospital of Northwest University, Xi\u2019an 710082, China"}],"role":[{"role":"author","vocabulary":"crossref"}]}],"member":"1968","published-online":{"date-parts":[[2022,6,14]]},"reference":[{"key":"ref_1","doi-asserted-by":"crossref","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 A J. 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