ArticleJournal of clinical neurology (Seoul, Korea)2025
Diverse Clinical Phenotypes of Neuronal Intranuclear Inclusion Disease in South Korea.
Article in Journal of clinical neurology (Seoul, Korea), 2025. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Cited by 3 papers.
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Who cites it
3 citing papers in PubMed.
- Adult-Onset Neuronal Intranuclear Inclusion Disease Initially Manifesting as Bladder Dysfunction: A Case Report.Cureus · 2026Article
- Genotype-phenotype correlations in neuronal intranuclear inclusion disease-related retinopathy with CGG repeat increases in NOTCH2NLC.Journal of neurology · 2026Article
- Screening GGC repeat expansion in theAlzheimer's & dementia (Amsterdam, Netherlands)Article
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Authors and funding
30 authors.
Funding
Abstract
background and purposeNeuronal intranuclear inclusion disease (NIID) is a progressive neurodegenerative disease characterized by a wide range of clinical manifestations. GGC-repeat expansion in
methodsTwenty-five NIID patients from 22 unrelated families of Korean ancestry were reviewed from 9 referral centers in South Korea. We compared clinical features between sporadic and familial NIID patients. We classified NIID patients according to their prominent symptoms. The presence of GGC repeat expansion was analyzed in 19 patients.
resultsThe 25 reviewed NIID patients comprised 12 (48.0%) sporadic and 13 (52.0%) familial cases, with the latter showing a significantly higher proportion of males (
conclusionsThis study has highlighted the diverse phenotypes and genetic profiles of Korean NIID patients, and provided valuable insights into this rare disorder.
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