ArticleNeurological sciences : official journal of the Italian Neurological Society and of the Italian Society of Clinical Neurophysiology2022
Characteristics of ocular findings of patients with neuronal intranuclear inclusion disease.
Article in Neurological sciences : official journal of the Italian Neurological Society and of the Italian Society of Clinical Neurophysiology, 2022. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Cited by 9 papers.
What it found
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The trial behind it
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Who cites it
9 citing papers in PubMed, 12 citations in OpenAlex.
- NOTCH2NLC GGC repeat expansions cause retinal neurodegeneration in neuronal intranuclear inclusion disease mouse model.Cell & bioscience · 2026Article
- Retinal degeneration as an initial manifestation in a patient with neuronal intranuclear inclusion disease.Documenta ophthalmologica. Advances in ophthalmology · 2025Article
- CGG Repeat Expansion inJournal of clinical neurology (Seoul, Korea) · 2024Article
- Neuronal Intranuclear Inclusion Disease with a Corneal Disorder: A Case Report.Medicina (Kaunas, Lithuania) · 2024Article
- Neuronal intranuclear inclusion disease: a case report and literature review.Acta neurologica Belgica · 2023Review
- NOTCH2NLC GGC repeat expansion causes retinal pathology with intranuclear inclusions throughout the retina and causes visual impairment.Acta neuropathologica communications · 2023Article
- Not your usual neurodegenerative disease: a case report of neuronal intranuclear inclusion disease with unconventional imaging patterns.Frontiers in neuroscience · 2023Article
- Clinical features ofJournal of neurology, neurosurgery, and psychiatry · 2022Observational
- Neuronal Intranuclear Inclusion Disease-Related Neurotrophic Keratitis: A Case Report.Brain sciences · 2022Article
Corrections and comments
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Authors and funding
8 authors at 1 institution in 1 country.
Funding
Abstract
purposeThis study aimed to explore the ocular characteristics of neuronal intranuclear inclusion disease (NIID), caused by GGC repeat expansion in the NOTCH2NLC gene, combined with the systemic clinical manifestations, and propose early diagnostic features of NIID.
methodsSix patients (12 eyes) were enrolled in this study. In vivo corneal confocal microscopy (IVCCM), fundus photography, fundus autofluorescence (FAF) imaging, optical coherence tomography (OCT), full-field electroretinography (ERG), and electromyography were performed.
resultsThe average corneal nerve fiber density (CNFD) was 6.83 ± 4.96 number/mm
conclusionThe findings of IVCCM and retinal changes should be included in the diagnostic criteria for NIID. Corneal confocal characteristics may precede the systemic neurological manifestations and provide a clinical basis for the early treatment and staging of the disease. ClincalTrials.gov. Identifier: ChiCTR21000500227.
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Registered trials
Read under generation 80e0d062 · epoch 390. Bibliography from PubMed, PubMed Central and OpenAlex; grants from NIH RePORTER; trial links from ClinicalTrials.gov; estimates, votes and beliefs from the OpenQuestion graph.