ArticlePsychiatry and clinical neurosciences2025
Psychiatric-onset neuronal intranuclear inclusion disease in a psychiatry-based dementia-enriched cohort in Japan.
Article in Psychiatry and clinical neurosciences, 2025. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Not yet cited in PubMed.
What it found
Each row is one number read from the abstract, on the scale the paper reported it, with its interval. Left of the dashed line favours the treatment, right favours the comparator. Under each row is the sentence it came from. New to these charts? A ten-minute tutorial.
The abstract states no effect estimate the extractor could read, or names no intervention and outcome on the map, so this paper lights no cell and moves no belief. It is still indexed, cited and linked below.
The trial behind it
Trials whose registry record cites this paper, or whose number appears in the abstract. A trial that started after this paper was published is citing it as background, not reporting it.
Neither the registry nor the abstract names a trial number. If this is a trial report, that itself is worth knowing.
Who cites it
0 citing papers in PubMed.
No citing paper in PubMed yet.
Corrections and comments
PubMed lists nothing against this paper. Absence here is not a guarantee, only a check that was made.
Authors and funding
16 authors.
Funding
Abstract
aimA GGC repeat expansion in the 5' untranslated region of NOTCH2NLC is a genetic cause of Neuronal Intranuclear Inclusion Disease (NIID) that exhibits cognitive, motor, and autonomic dysfunction. Our objective is to determine whether there are undiagnosed NIID cases in a psychiatry-based dementia-enriched cohort and to identify their clinical characteristics.
methodsA retrospective clinical cohort study was conducted in an inpatient and outpatient psychiatric clinic in a University Hospital in Osaka, Japan. Genomic DNA and clinical information were collected with written informed consent. Nine hundred fifty-eight cases were clinically classified according to the International Classification of Diseases (ICD)-10 system. Genetic analysis with Repeat-Primed PCR and Amplicon-Length PCRs were performed.
resultsOf the 958 cases, three were confirmed to have an aberrant GGC repeat expansion in NOTCH2NLC. Cases 1 and 2 had preceding anxiety and depressive episodes, and one of these cases also had a mild cognitive impairment. Case 3 met the diagnostic criteria for progressive supranuclear palsy. All three cases lacked hyperintensity at the corticomedullary border on diffusion-weighted MRI, which is known as a characteristic for NIID. Interestingly, one case exhibited the corticomedullary hyperintensity later in the disease course with apparent neurocognitive decline. All three cases exhibited a mix of slow waves in electroencephalogram and elevated total protein level in cerebrospinal fluid.
conclusionsNIID is a rare cause of cognitive dysfunction in a psychiatry-based dementia-enriched cohort in Japan. Our data implicates psychiatric symptoms can be prodromal or early manifestation of a subset of NIID cases, thereby extending its phenotypic spectrum.
Indexed as
Identifiers
What OpenQuestion holds
Registered trials
Read under generation 80e0d062 · epoch 390. Bibliography from PubMed, PubMed Central and OpenAlex; grants from NIH RePORTER; trial links from ClinicalTrials.gov; estimates, votes and beliefs from the OpenQuestion graph.