Psychiatric-onset neuronal intranuclear inclusion disease in a psychiatry-based dementia-enriched cohort in Japan
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View abstract on PubMed
Summary
This summary is machine-generated.Neuronal Intranuclear Inclusion Disease (NIID) can manifest with psychiatric symptoms. This study identified three undiagnosed NIID cases in a dementia-focused psychiatric cohort, highlighting the disease
Area Of Science
- Neurology
- Genetics
- Psychiatry
Background
- Neuronal Intranuclear Inclusion Disease (NIID) is a rare neurodegenerative disorder.
- A GGC repeat expansion in the NOTCH2NLC gene is identified as a genetic cause of NIID.
- NIID presents with cognitive, motor, and autonomic dysfunction.
Purpose Of The Study
- To investigate the prevalence of undiagnosed NIID cases within a dementia-enriched psychiatric cohort.
- To characterize the clinical presentation of NIID in this specific patient population.
Main Methods
- Retrospective clinical cohort study in a Japanese university hospital's psychiatric clinic.
- Analysis of 958 cases classified using ICD-10 criteria.
- Genetic testing (Repeat-Primed PCR, Amplicon-Length PCRs) and clinical data review.
Main Results
- Three out of 958 cases showed GGC repeat expansion in NOTCH2NLC.
- Two cases presented with preceding anxiety/depression and mild cognitive impairment.
- One case met criteria for progressive supranuclear palsy; characteristic MRI findings were initially absent in all three.
- EEG showed slow waves and CSF revealed elevated protein levels in all identified cases.
Conclusions
- NIID is a rare but identifiable cause of cognitive dysfunction in psychiatric cohorts.
- Psychiatric symptoms may serve as prodromal or early signs of NIID, expanding its known clinical spectrum.
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