AI Article Synopsis
- NIID is a complex disease with varying symptoms, making early diagnosis difficult, and PSP-like symptoms had not previously been associated with it.
- A 58-year-old man initially diagnosed with probable PSP showed symptoms like Parkinsonism and gaze problems, but further testing revealed he actually had NIID due to specific genetic expansions and skin biopsy findings.
- This case highlights the need for clinicians to consider NIID as a possible diagnosis when faced with PSP-like symptoms, even in the absence of typical imaging indicators.
Article Abstract
Background: Given 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.
Conclusion: Even 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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| http://dx.doi.org/10.1007/s10072-023-06644-9 | DOI Listing |
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Article Synopsis
- The NOTCH2NLC gene is linked to several neurological disorders through expansions of GGC repeats in its 5' untranslated region, which can lead to conditions like Parkinson's, dementia, and tremors.
- The study used cellular models and CRISPR-Cas9 engineered mice with specific GGC repeat variations to investigate the effects of these repeats, particularly focusing on those with serine insertions.
- Results showed that a specific intermediate repeat with serine insertion caused mitochondrial dysfunction and neurotoxicity, leading to PD-like symptoms in mice, including neuronal loss and behavioral impairments.
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