ArticleJournal of neurology2020
Clinical and pathological features in adult-onset NIID patients with cortical enhancement.
Article in Journal of neurology, 2020. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Cited by 54 papers.
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Who cites it
54 citing papers in PubMed, 65 citations in OpenAlex.
- Neural substrates of cognitive decline and tremor in neuronal intranuclear inclusion disease: a morphometric MRI study.Brain structure & function · 2026Article
- Distinctive hydrocephalus-like phenotype in NOTCH2NLC-related neuronal intranuclear inclusion disease: clinicopathological features and therapeutic implications.Acta neuropathologica communications · 2026Article
- Overflow urinary incontinence as an early manifestation of neuronal intranuclear inclusion disease (NIID): a case report.Journal of medical case reports · 2026Article
- Teaching NeuroImage: an imaging clue for neuronal intranuclear inclusion disease.Neurological sciences : official journal of the Italian Neurological Society and of the Italian Society of Clinical Neurophysiology · 2026Article
- PML targets and resolves structured protein inclusions to mitigate neurodegeneration.Nature cell biology · 2026Article
- Neuronal intranuclear inclusion disease: a diagnostic pitfall for MELAS.BMC neurology · 2026Article
- Neuronal intranuclear inclusion disease with initial manifestation of intractable nausea and vomiting responsive to corticosteroids: a case report.Frontiers in immunology · 2026Article
- Inflammation in Neuronal Intranuclear Inclusion Disease (NIID): mechanisms, biomarkers, and therapeutic implications.Journal of neuroinflammation · 2025Review
- Neuronal intranuclear inclusion disease with recurrent encephalitis.BMC neurology · 2025Article
- Retinal degeneration as an initial manifestation in a patient with neuronal intranuclear inclusion disease.Documenta ophthalmologica. Advances in ophthalmology · 2025Article
- Type B Fibers: A Novel Ultrastructural Biomarker for Cognitive Impairment in Neuronal Intranuclear Inclusion Disease.Brain sciences · 2025Article
- Detection and characterization of rare variants in NOTCH2NLC causing false negative molecular diagnosis through long-read sequencing.European journal of human genetics : EJHG · 2025Article
- Neuronal intranuclear inclusion disease with subtle imaging findings: a case report and literature review.BMJ neurology open · 2025Article
- A case report of neuronal intranuclear inclusion disease and literature review.BMC neurology · 2024Review
- Encephalitis-like episodes with cortical edema and enhancement in patients with neuronal intranuclear inclusion disease.Neurological sciences : official journal of the Italian Neurological Society and of the Italian Society of Clinical Neurophysiology · 2024Review
- Article
- Review of Phenotypic Heterogeneity of Neuronal Intranuclear Inclusion Disease andNeurology. Genetics · 2024Review
- Article
- Recovery after Prolonged Disturbance of Consciousness and Repeated Cerebral Perfusion Changes in Neuronal Intranuclear Inclusion Disease.Internal medicine (Tokyo, Japan) · 2024Article
- Case report: 10-year follow-up of a patient with neuronal intranuclear inclusion disease and a literature review.Frontiers in neuroscience · 2024Article
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Authors and funding
13 authors at 3 institutions in 2 countries.
Funding
Abstract
backgroundNeuronal intranuclear inclusion disease (NIID) is a neurodegenerative disease characterized by eosinophilic hyaline intranuclear inclusions in multiple organs. On conventional MRI, high signals on diffused weight image (DWI) along the corticomedullary junction have demonstrated great diagnostic values for adult-onset NIID. However, changes of contrast MRI in the acute period of the encephalopathy-like episode have rarely been investigated.
methodsPatients with enhanced lesions were retrieved in our database including 35 patients with adult-onset NIID between October 2017 and December 2019. Conventional and contrast MRI were conducted in all patients. Standard procedures of skin biopsy were performed in all patients. Repeat-primed PCR and amplicon length PCR were used to screen the GGC expansion in the 5'UTR of the NOTCH2NLC gene.
resultsFour of 35 patients (11.4%) were identified to have a cortical enhancement in this study. The enhanced lesions were selectively spread along the surface of posterior cortex and were clinically associated with encephalopathy-like episodes. These patients had a younger age of onset, shorter duration of disease, and a higher incidence of a headache than those without enhancement. Typical p62-postive intranuclear inclusions were observed in all patients, while patient 1 simultaneously had many nuclei full of abnormal substance immunopositive to p62, as well as short-curly filament materials on electron microscopy. All patients were identified to have GGC repeat expansion in the NOTCH2NLC gene.
conclusionPost-contrast MRI should be routinely performed in the adult-onset NIID patients. Some patients with adult-onset NIID showed cortical enhancement and edema along the surface of posterior cortex, indicating that dehydrate and anti-inflammatory drugs might be potential therapies for these patients.
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