ArticleNeuroradiology2019
Identifying patients with neuronal intranuclear inclusion disease in Singapore using characteristic diffusion-weighted MR images.
Article in Neuroradiology, 2019. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Cited by 18 papers.
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18 citing papers in PubMed, 28 citations in OpenAlex.
- Distinctive hydrocephalus-like phenotype in NOTCH2NLC-related neuronal intranuclear inclusion disease: clinicopathological features and therapeutic implications.Acta neuropathologica communications · 2026Article
- Neuronal intranuclear inclusion disease caused by NOTCH2NLC gene expansion: a case report and literature review.BMC neurology · 2026Review
- Identification of a novelFrontiers in genetics · 2026Article
- Clinics in diagnostic imaging (224).Singapore medical journal · 2025Article
- Neuronal intranuclear inclusion disease with subtle imaging findings: a case report and literature review.BMJ neurology open · 2025Article
- Clinical and multimodal imaging features of adult-onset neuronal intranuclear inclusion disease.Neurological sciences : official journal of the Italian Neurological Society and of the Italian Society of Clinical Neurophysiology · 2024Article
- CGG Repeat Expansion inJournal of clinical neurology (Seoul, Korea) · 2024Article
- U-fiber analysis: a toolbox for automated quantification of U-fibers and white matter hyperintensities.Quantitative imaging in medicine and surgery · 2024Article
- Neuronal intranuclear inclusion disease with cortical involvement in left hemisphere: a case report.Wiener klinische Wochenschrift · 2024Article
- Neuronal intranuclear inclusion disease mimicking progressive supranuclear palsy.Neurological sciences : official journal of the Italian Neurological Society and of the Italian Society of Clinical Neurophysiology · 2023Article
- Longitudinal course of hyperintensity on diffusion weighted imaging in adult-onset neuronal intranuclear inclusion disease patients.Frontiers in neurology · 2023Article
- Not your usual neurodegenerative disease: a case report of neuronal intranuclear inclusion disease with unconventional imaging patterns.Frontiers in neuroscience · 2023Article
- Clinicopathological features of neuronal intranuclear inclusion disease diagnosed by skin biopsy.Neurological sciences : official journal of the Italian Neurological Society and of the Italian Society of Clinical Neurophysiology · 2022Article
- Unraveling rare form of adult-onset NIID by characteristic brain MRI features: A single-center retrospective review.Frontiers in neurology · 2022Article
- Clinical and mechanism advances of neuronal intranuclear inclusion disease.Frontiers in aging neuroscience · 2022Review
- Editorial: New challenges and future perspectives in neurodegeneration.Frontiers in neuroscience · 2022Article
- Neuronal intranuclear inclusion disease: two case report and literature review.Neurological sciences : official journal of the Italian Neurological Society and of the Italian Society of Clinical Neurophysiology · 2021Review
- Neuronal intranuclear inclusion disease mimicking acute cerebellitis: A case report.World journal of clinical cases · 2020Article
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Authors and funding
8 authors at 3 institutions in 2 countries.
Funding
Abstract
purposeAdult-onset neuronal intranuclear inclusion disease (NIID) is a rare neurodegenerative disorder described mainly in the Japanese population, with characteristic DWI abnormalities at the junction between gray and white matter. We identify possible cases of NIID in the picture archive and communication system (PACS) of a tertiary neurological referral hospital in Singapore and describe their radiological features.
methodsThe neuroradiology imaging database was reviewed using keyword search of radiological reports to identify patients who had "subcortical U fibre" abnormalities on DWI. MRI were retrospectively reviewed, and those fulfilling inclusion criteria were invited for skin biopsy to detect nuclear inclusions by light and electron microscopy.
resultsTwelve Chinese patients (nine female; median age 70.5 years) were enrolled. Seven patients were being assessed for dementia and five for other neurological indications. In all patients, DWI showed distinctive subcortical high signal with increased average apparent diffusion coefficient (ADC), involving frontal, parietal, and temporal more than occipital lobes; the corpus callosum and external capsule were affected in some patients. On T2-weighted images, cerebral and cerebellar atrophy and white matter hyperintensity of Fazekas grade 2 and above were seen in all patients. Three patients underwent skin biopsy; all were positive for intranuclear hyaline inclusion bodies on either p62 staining or electron microscopy, which are pathognomonic for NIID.
conclusionPreviously undiagnosed patients with NIID can be identified by searching for abnormalities at the junction between gray and white matter on DWI in PACS and subsequently confirmed by skin biopsy. Radiologists should recognize the distinctive neuroimaging pattern of this dementing disease.
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