ArticleActa neuropathologica communications2023
NOTCH2NLC GGC repeat expansion causes retinal pathology with intranuclear inclusions throughout the retina and causes visual impairment.
Article in Acta neuropathologica communications, 2023. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Cited by 12 papers.
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12 citing papers in PubMed, 13 citations in OpenAlex.
- Recurrent Bilateral Macular Edema Linked to NOTCH2NLC GGC Repeat Expansion: A Case Report.The American journal of case reports · 2026Article
- Asthma-like bronchodilator responsiveness in patients with neuronal intranuclear inclusion disease.Scientific reports · 2026Article
- Genotype-phenotype correlations in neuronal intranuclear inclusion disease-related retinopathy with CGG repeat increases in NOTCH2NLC.Journal of neurology · 2026Article
- NOTCH2NLC GGC repeat expansions cause retinal neurodegeneration in neuronal intranuclear inclusion disease mouse model.Cell & bioscience · 2026Article
- Adult-onset neuronal intranuclear inclusion disease (NIID) combined with acute ischaemic stroke: a case report.Neurological sciences : official journal of the Italian Neurological Society and of the Italian Society of Clinical Neurophysiology · 2025Article
- Retinal degeneration as an initial manifestation in a patient with neuronal intranuclear inclusion disease.Documenta ophthalmologica. Advances in ophthalmology · 2025Article
- Diverse Clinical Phenotypes of Neuronal Intranuclear Inclusion Disease in South Korea.Journal of clinical neurology (Seoul, Korea) · 2025Article
- Recent Advances in Visual Dysfunction and Ocular Biomarkers in Neurological Disorders.Eye and brain · 2025Review
- Neuronal Intranuclear Inclusion Disease with a Corneal Disorder: A Case Report.Medicina (Kaunas, Lithuania) · 2024Article
- My recollections of my 50 years as a neuropathologist from a neurologist's perspective.Free neuropathology · 2023Article
- Not your usual neurodegenerative disease: a case report of neuronal intranuclear inclusion disease with unconventional imaging patterns.Frontiers in neuroscience · 2023Article
- Recurrent migraine with visual aura as the primary phenotype of familial neuronal intranuclear inclusion disease.Frontiers in neurologyArticle
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Authors and funding
18 authors at 6 institutions in 1 country.
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No grant is acknowledged in the PubMed record.
Abstract
The retinal pathology of genetically confirmed neuronal intranuclear inclusion disease (NIID) is yet unknown. We report the ocular findings in four NIID patients with NOTCH2NLC GGC repeat expansion to investigate the pathology of retinopathy. All four NIID patients were diagnosed by skin biopsy and NOTCH2NLC GGC repeat analysis. Ocular findings in patients with NIID were studied using fundus photographs, optical coherence tomographic images (OCT), and full-field electroretinograms (ERGs). The histopathology of the retina was studied on autopsy samples from two cases with immunohistochemistry. All patients had an expansion of the GGC repeat (87-134 repeats) in the NOTCH2NLC. Two patients were legally blind and had been diagnosed with retinitis pigmentosa prior to the diagnosis of NIID and assessed with whole exome sequencing to rule out comorbidity with other retinal diseases. Fundus photographs around the posterior pole showed chorioretinal atrophy in the peripapillary regions. OCT showed thinning of the retina. ERGs showed various abnormalities in cases. The histopathology of autopsy samples showed diffusely scattered intranuclear inclusions throughout the retina from the retinal pigment epithelium to the ganglion cell layer, and optic nerve glial cells. And severe gliosis was observed in retina and optic nerve. The NOTCH2NLC GGC repeat expansion causes numerous intranuclear inclusions in the retina and optic nerve cells and gliosis. Visual dysfunction could be the first sign of NIID. We should consider NIID as one of the causes of retinal dystrophy and investigate the GGC repeat expansion in NOTCH2NLC.
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