ReviewNeurological sciences : official journal of the Italian Neurological Society and of the Italian Society of Clinical Neurophysiology2023
Current advances in neuronal intranuclear inclusion disease.
Review in Neurological sciences : official journal of the Italian Neurological Society and of the Italian Society of Clinical Neurophysiology, 2023. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Cited by 17 papers, 1 of them a synthesis that pooled it.
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Who cites it
17 citing papers in PubMed, 1 synthesis or guideline pooled it, 23 citations in OpenAlex.
- Neuronal intranuclear inclusion disease with stroke-mimicking onset: a case report and systematic review.Neurological sciences : official journal of the Italian Neurological Society and of the Italian Society of Clinical Neurophysiology · 2026Pooled it
- Subclinical peripheral nerve demyelination without overt symptoms in a family with neuronal intranuclear inclusion disease harboring biallelic repeat expansions.BMC neurology · 2026Article
- Adult-onset neuronal intranuclear inclusion disease initially presenting with prominent gastrointestinal symptoms: a case report.BMC neurology · 2026Article
- Levodopa intolerance as a potential clinical red flag for neuronal intranuclear inclusion disease (NIID) in atypical parkinsonism: a case report.BMC neurology · 2026Article
- Neuronal Intranuclear Inclusion Disease: A Case Report With Insights Into Clinical Features and Potential Therapeutic Implications.Case reports in neurological medicine · 2026Article
- Neuronal intranuclear inclusion disease with recurrent encephalitis.BMC neurology · 2025Article
- Type B Fibers: A Novel Ultrastructural Biomarker for Cognitive Impairment in Neuronal Intranuclear Inclusion Disease.Brain sciences · 2025Article
- Autophagy Dysfunction and Neurodegeneration: Where Does It Go Wrong?Journal of molecular biology · 2025Review
- Diverse Clinical Phenotypes of Neuronal Intranuclear Inclusion Disease in South Korea.Journal of clinical neurology (Seoul, Korea) · 2025Article
- Neuronal Intranuclear Inclusion Disease: A Confirmed Case Report and Analysis of MRI Characteristics in Three Typical CasesCurrent medical imaging · 2025Article
- Article
- Adult-type neuronal intranuclear inclusion disease with limb tremor onset: a case report.Acta neurologica Belgica · 2024Article
- Retrospective review of bladder biopsy instead of skin biopsy provided clue for the diagnosis of neuronal intranuclear inclusion disease.Frontiers in neuroscience · 2024Article
- Neuronal Intranuclear Inclusion Disease Presenting with Acute-Onset Dementia and Cortical Edema: A Case Report.Frontiers in neurology · 2024Article
- Diffusion and functional MRI reveal microstructural and network connectivity impairment in adult-onset neuronal intranuclear inclusion disease.Frontiers in aging neuroscience · 2024Article
- Rapidly progressive adult-onset neuronal intranuclear inclusion disease beginning with autonomic symptoms: a case report.Frontiers in neurology · 2023Article
- Recurrent migraine with visual aura as the primary phenotype of familial neuronal intranuclear inclusion disease.Frontiers in neurologyArticle
Corrections and comments
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Authors and funding
5 authors at 1 institution in 1 country.
Funding
No grant is acknowledged in the PubMed record.
Abstract
Neuronal intranuclear inclusion disease (NIID) is a rare but probably underdiagnosed neurodegenerative disorder due to pathogenic GGC expansions in the NOTCH2NLC gene. In this review, we summarize recent developments in the inheritance features, pathogenesis, and histopathologic and radiologic features of NIID that subvert the previous perceptions of NIID. GGC repeat sizes determine the age of onset and clinical phenotypes of NIID patients. Anticipation may be absent in NIID but paternal bias is observed in NIID pedigrees. Eosinophilic intranuclear inclusions in skin tissues once considered pathological hallmarks of NIID can also present in other GGC repeat diseases. Diffusion-weighted imaging (DWI) hyperintensity along the corticomedullary junction once considered the imaging hallmark of NIID can frequently be absent in muscle weakness and parkinsonism phenotype of NIID. Besides, DWI abnormalities can appear years after the onset of predominant symptoms and may even disappear completely with disease progression. Moreover, continuous reports of NOTCH2NLC GGC expansions in patients with other neurodegenerative diseases lead to the proposal of a new concept of NOTCH2NLC-related GGC repeat expansion disorders (NRED). However, by reviewing the previous literature, we point out the limitations of these studies and provide evidence that these patients are actually suffering from neurodegenerative phenotypes of NIID.
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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.