ArticleFrontiers in aging neuroscience2022
Urine cytological study in patients with clinicopathologically confirmed neuronal intranuclear inclusion disease.
Article in Frontiers in aging neuroscience, 2022. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Cited by 3 papers, 1 of them a synthesis that pooled it.
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3 citing papers in PubMed, 1 synthesis or guideline pooled it, 5 citations in OpenAlex.
- Clinical features of neuronal intranuclear inclusion disease with seizures: a systematic literature review.Frontiers in neurology · 2024Pooled it
- Dual diagnosis at the neuro-immune interface: a case report of neuronal intranuclear inclusion disease with acute anti-CASPR2 encephalitis.Frontiers in immunology · 2025Article
- 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
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10 authors at 3 institutions in 1 country.
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Abstract
Objective: The diagnosis of neuronal intranuclear inclusion disease (NIID) is currently based on CGG repeat expansion in the 5'UTR of the Materials and methods: Ten patients with clinically suspected NIID were enrolled for skin biopsy and gene screening. Morning urine (500 ml) was collected from each patient, and cell sediment was obtained by centrifugation. Urine cytology, including Giemsa staining, p62 immunostaining, and electron microscopic examination, were conducted on cell sediment. Results: The main clinical symptoms of 10 patients included episodic disturbance of consciousness, cognitive impairment, tremor, limb weakness, and so on. Cerebral MRI showed that 9 patients had linear DWI high signal in the corticomedullary junction. Genetic testing found that the number of CGG repeat ranged from 96 to 158 in the Conclusion: Urine cytology may be a new and non-invasive pathological diagnosis technique for some NIID patients, although the positive rate is not as high as that of skin biopsy, which is a sensitive and reliable pathological method for NIID.
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