ArticleNeurological sciences : official journal of the Italian Neurological Society and of the Italian Society of Clinical Neurophysiology2023
Neuronal intranuclear inclusion disease mimicking progressive supranuclear palsy.
Article 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 1 paper.
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1 citing paper in PubMed, 3 citations in OpenAlex.
- Psychiatric-onset neuronal intranuclear inclusion disease in a psychiatry-based dementia-enriched cohort in Japan.Psychiatry and clinical neurosciences · 2025Article
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7 authors at 1 institution in 1 country.
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Abstract
backgroundGiven the variable nature of clinical manifestations, neuronal intranuclear inclusion disease (NIID) is regarded as a heterogeneous disease which is challenging to diagnose early. To the present, progressive supranuclear palsy (PSP)-like symptoms have never been listed in the performance of NIID. CASE PRESENTATION: A 58-year-old man presented with progressive Parkinsonism and postural instability for 3 years. Initially, he was considered as probable PSP due to vertical supranuclear gaze palsy, postural instability, and hummingbird sign. No high-intensity signal on diffusion-weighted imaging (DWI) was revealed. Eventually, the diagnosis was revised to NIID by Notch 2 N-terminal like C (NOTCH2NLC) GGC repeat expansions and skin biopsy showing intranuclear eosinophilic inclusions in the vesicles and ductal epithelial cells of sweat glands.
conclusionEven if the typical high-intensity along the corticomedullary junction (CMJ) on DWI is lacking, clinicians should be alert to the possibility of NIID when PSP-like symptoms develop. This case report offers new features of NIID and expands its clinical spectrum.
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