ArticleHeliyon2020
A case of neuronal intranuclear inclusion disease with recurrent vomiting and without apparent DWI abnormality for the first seven years.
Article in Heliyon, 2020. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Cited by 20 papers.
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Who cites it
20 citing papers in PubMed, 32 citations in OpenAlex.
- Adult-onset neuronal intranuclear inclusion disease initially presenting with prominent gastrointestinal symptoms: a case report.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
- Type B Fibers: A Novel Ultrastructural Biomarker for Cognitive Impairment in Neuronal Intranuclear Inclusion Disease.Brain sciences · 2025Article
- Case report: Neuronal intranuclear inclusion disease initially mimicking reversible cerebral vasoconstriction syndrome: serial neuroimaging findings during an 11-year follow-up.Frontiers in neurology · 2024Article
- Neuronal intranuclear inclusion disease with cortical involvement in left hemisphere: a case report.Wiener klinische Wochenschrift · 2024Article
- Diffusion and functional MRI reveal microstructural and network connectivity impairment in adult-onset neuronal intranuclear inclusion disease.Frontiers in aging neuroscience · 2024Article
- A comprehensive study of clinicopathological and genetic features of neuronal intranuclear inclusion disease.Neurological sciences : official journal of the Italian Neurological Society and of the Italian Society of Clinical Neurophysiology · 2023Article
- Article
- Clinical and neuroimaging review of triplet repeat diseases.Japanese journal of radiology · 2023Review
- Clinical-neuroimaging-pathological relationship analysis of adult onset Neuronal Intranuclear Inclusion Disease (NIID).BMC neurology · 2022Article
- Absence of diffusion-weighted imaging abnormalities in a patient with neuronal intranuclear inclusion disease.Neurological sciences : official journal of the Italian Neurological Society and of the Italian Society of Clinical Neurophysiology · 2022Article
- Adult-Onset Neuronal Intranuclear Inclusion Disease with Mitochondrial Encephalomyopathy, Lactic Acidosis, and Stroke-Like (MELAS-like) Episode: A Case Report and Review of Literature.Brain sciences · 2022Article
- Genetic and Imaging Characteristics of a Family With Neuronal Intranuclear Inclusion Disease.Journal of clinical neurology (Seoul, Korea) · 2022Article
- Sporadic adult-onset neuronal intranuclear inclusion disease without high-intensity signal on DWI and T2WI: a case report.BMC neurology · 2022Article
- Neurodegenerative diseases associated with non-coding CGG tandem repeat expansions.Nature reviews. Neurology · 2022Review
- Clinical and mechanism advances of neuronal intranuclear inclusion disease.Frontiers in aging neuroscience · 2022Review
- Clinical characteristics of two patients with neuronal intranuclear inclusion disease and literature review.Frontiers in neuroscience · 2022Article
- NOTCH2NLC-related repeat expansion disorders: an expanding group of neurodegenerative disorders.Neurological sciences : official journal of the Italian Neurological Society and of the Italian Society of Clinical Neurophysiology · 2021Review
- Coexistence of neuronal intranuclear inclusion disease and amyotrophic lateral sclerosis: an autopsy case.BMC neurology · 2021Article
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Authors and funding
6 authors at 2 institutions in 1 country.
Funding
No grant is acknowledged in the PubMed record.
Abstract
Neuronal intranuclear inclusion disease (NIID) is a rare, neurodegenerative disorder characterized by the presence of eosinophilic hyaline intranuclear inclusions, which are ubiquitin-positive and p62-positive, in neuronal and somatic cells; this can be observed on skin biopsy. Although patients with NIID present with a variety of symptoms that often make the diagnosis difficult, characteristic high-signal intensity of the corticomedullary junction on diffusion-weighted imaging (DWI) often provides a clue to the diagnosis of NIID. We present a case of NIID in a 57-year-old woman who only had recurrent vomiting for four years, which is uncommon as the presenting symptom; moreover, DWI showed no apparent abnormality until a slightly abnormal intensity lesion appeared at the right frontal corticomedullary junction seven years after the first episode of recurrent vomiting. Skin biopsies revealed multiple p62-positive nuclear inclusions, and genetic test showed GGC repeat expansion in
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