Evidence map›Paper›PMID 37558486›Full record

ArticleInternal medicine (Tokyo, Japan)2024

Late-onset Myoclonic Seizure in a 78-year-old Woman with Gaucher Disease.

Nanaka Yamaguchi-Takegami, Akiko Takahashi, Jun Mitsui, Yusuke Sugiyama, Ayaka Chikada, Kristine Joyce L Porto, Naoki Takegami, Kaori Sakuishi, Hiroyuki Ishiura, Kaoru Yamada and 3 more

Open access · diamondAbstract readCase Reports
In one paragraph

Article in Internal medicine (Tokyo, Japan), 2024. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Cited by 2 papers.

0numbers the graph read from it
0cells of the map it votes in
2citing papers in PubMed
0.2field-weighted citation impact, top 47% 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

2 citing papers in PubMed, 1 citations in OpenAlex.

  1. Observational
  2. Article
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

13 authors at 4 institutions in 1 country.

Nanaka Yamaguchi-TakegamiDepartment of Neurology, Graduate School of Medicine, The University of Tokyo, Japan.
Akiko TakahashiDepartment of Neurology, Graduate School of Medicine, The University of Tokyo, Japan.
Jun MitsuiDepartment of Neurology, Graduate School of Medicine, The University of Tokyo, Japan.
Yusuke SugiyamaDepartment of Neurology, Graduate School of Medicine, The University of Tokyo, Japan.
Ayaka ChikadaDepartment of Neurology, Graduate School of Medicine, The University of Tokyo, Japan.
Kristine Joyce L PortoDepartment of Neurology, Graduate School of Medicine, The University of Tokyo, Japan.
Naoki TakegamiDepartment of Neurology, Graduate School of Medicine, The University of Tokyo, Japan.
Kaori SakuishiDepartment of Neurology, Graduate School of Medicine, The University of Tokyo, Japan.
Hiroyuki IshiuraDepartment of Neurology, Graduate School of Medicine, The University of Tokyo, Japan.
Kaoru YamadaDepartment of Health Administration/Prevention Medicine, Sanraku Hospital, Japan.
Jun ShimizuDepartment of Neurology, Graduate School of Medicine, The University of Tokyo, Japan.
Shoji TsujiDepartment of Neurology, Graduate School of Medicine, The University of Tokyo, Japan.
Tatsushi TodaDepartment of Neurology, Graduate School of Medicine, The University of Tokyo, Japan.
The University of Tokyo · JPSanraku Hospital · JPNational Center for Global Health and Medicine · JPTokyo University of Technology · JP

Funding

No grant is acknowledged in the PubMed record.

6 · The paper itself

Abstract

We herein report a 78-year-old woman with Gaucher disease (GD) who was initially diagnosed with GD type 1, had been receiving long-term enzyme replacement therapy since 58 years old, and developed neurological manifestations in her 70s. The neurological manifestations included myoclonic seizures and progressive cognitive decline. Although it is rare for GD patients to first develop neurologic manifestations at such an advanced age, physicians engaged in long-term care for GD patients should be alert for this possibility.

Indexed as

Gaucher DiseaseAgedEnzyme Replacement TherapyFemaleGlucosylceramidaseHumansLong-Term CareSeizuresGlucosylceramidaseenzyme replacement therapy (ERT)epilepsyGBA1 variantneurological symptomsneuronopathic gaucher diseaseparkinsonism

Identifiers

PMID37558486
PMCPMC11008993
OpenAlexW4385654324

What OpenQuestion holds

Textmetadata
LicenceCC BY-NC-ND
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.