Evidence map›Paper›PMID 37332983›Full record

ArticleFrontiers in neurology2023

Case report: Neuronal intranuclear inclusion disease presenting with acute encephalopathy.

Julia Ting Bu, Dolores Torres, Adam Robinson, Corey Malone, Juan Carlos Vera, Shadi Daghighi, Anastasie Dunn-Pirio, Suzan Khoromi, Justin Nowell, Gabriel C Léger and 6 more

Open access · goldAbstract readCase Reports
PubMed Full text at PMC Publisher
In one paragraph

Article in Frontiers in neurology, 2023. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Cited by 1 paper, 1 of them a synthesis that pooled it.

0numbers the graph read from it
0cells of the map it votes in
1citing papers in PubMed, 1 pooled it
0.6field-weighted citation impact, top 38% of its field
1 · What the graph read from it

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.

2 · The registry

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.

3 · Its place in the literature

Who cites it

1 citing paper in PubMed, 1 synthesis or guideline pooled it, 4 citations in OpenAlex.

  1. Neuronal intranuclear inclusion disease with stroke-mimicking onset: a case report and systematic review.Neurological sciences : official journal of the Italian Neurological Society and of the Italian Society of Clinical Neurophysiology · 2026
    Pooled it
4 · The record

Corrections and comments

PubMed lists nothing against this paper. Absence here is not a guarantee, only a check that was made.

5 · Who and what money

Authors and funding

16 authors at 3 institutions in 1 country.

Julia Ting BuDepartment of Neurosciences, University of California, San Diego, La Jolla, CA, United States.
Dolores TorresDepartment of Neurosciences, University of California, San Diego, La Jolla, CA, United States.
Adam RobinsonDepartment of Radiology, University of California, San Diego, La Jolla, CA, United States.
Corey MaloneDepartment of Radiology, University of California, San Diego, La Jolla, CA, United States.
Juan Carlos VeraSharp Rees-Stealy, Department of Radiology, San Diego, CA, United States.
Shadi DaghighiDepartment of Radiology, State University of New York Upstate Medical University, Syracuse, NY, United States.
Anastasie Dunn-PirioDepartment of Neurosciences, University of California, San Diego, La Jolla, CA, United States.
Suzan KhoromiDepartment of Neurosciences, University of California, San Diego, La Jolla, CA, United States.
Justin NowellSharp Rees-Stealy, Department of Neurology, San Diego, CA, United States.
Gabriel C LégerDepartment of Neurosciences, University of California, San Diego, La Jolla, CA, United States.
Joseph D CiacciDepartment of Radiology, University of California, San Diego, La Jolla, CA, United States.
Vanessa S GoodwillDepartment of Pathology, University of California, San Diego, La Jolla, CA, United States.
Melanie EstrellaDepartment of Radiology, University of California, San Diego, La Jolla, CA, United States.
David G CoughlinDepartment of Neurosciences, University of California, San Diego, La Jolla, CA, United States.
Yueyang GuoDepartment of Radiology, University of California, San Diego, La Jolla, CA, United States.
Nikdokht FaridDepartment of Radiology, University of California, San Diego, La Jolla, CA, United States.
University of California, San Diego · USSharp Rees-Stealy Medical Group · USSUNY Upstate Medical University · US

Funding

No grant is acknowledged in the PubMed record.

6 · The paper itself

Abstract

Neuronal intranuclear inclusion disease (NIID), a neurodegenerative disease previously thought to be rare, is increasingly recognized despite heterogeneous clinical presentations. NIID is pathologically characterized by ubiquitin and p-62 positive intranuclear eosinophilic inclusions that affect multiple organ systems, including the brain, skin, and other tissues. Although the diagnosis of NIID is challenging due to phenotypic heterogeneity, a greater understanding of the clinical and imaging presentations can improve accurate and early diagnosis. Here, we present three cases of pathologically proven adult-onset NIID, all presenting with episodes of acute encephalopathy with protracted workups and lengthy time between symptom onset and diagnosis. Case 1 highlights challenges in the diagnosis of NIID when MRI does not reveal classic abnormalities and provides a striking example of hyperperfusion in the setting of acute encephalopathy, as well as unique pathology with neuronal central chromatolysis, which has not been previously described. Case 2 highlights the progression of MRI findings associated with multiple NIID-related encephalopathic episodes over an extended time period, as well as the utility of skin biopsy for antemortem diagnosis.

Indexed as

arterial spin labelingcase reportchromatolysismagnetic resonance imagingneuronal intranuclear inclusion disease

Identifiers

PMID37332983
PMCPMC10272712
OpenAlexW4379231008

What OpenQuestion holds

Textmetadata
LicenceCC BY
Read underepoch 390

Registered trials

None linked

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.