Evidence map›Paper›PMID 35022352›Full record

ArticleInternal medicine (Tokyo, Japan)2022

Dystonic Tremor in Adult-onset DYT-KMT2B.

Rui Shimazaki, Jun Ikezawa, Ryoichi Okiyama, Kenko Azuma, Hiroyuki Akagawa, Kazushi Takahashi

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

Article in Internal medicine (Tokyo, Japan), 2022. 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
0.6field-weighted citation impact, top 30% 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, 3 citations in OpenAlex.

  1. Clinical, imaging and genetic profile of KMT2B-related dystonia: a review of published cases.Journal of neural transmission (Vienna, Austria : 1996) · 2026
    Review
  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

6 authors at 2 institutions in 1 country.

Rui ShimazakiDepartment of Neurology, Tokyo Metropolitan Neurological Hospital, Japan.
Jun IkezawaDepartment of Neurology, Tokyo Metropolitan Neurological Hospital, Japan.
Ryoichi OkiyamaDepartment of Neurology, Tokyo Metropolitan Neurological Hospital, Japan.
Kenko AzumaTokyo Women's Medical University, Institute for Integrated Medical Sciences, Japan.
Hiroyuki AkagawaTokyo Women's Medical University, Institute for Integrated Medical Sciences, Japan.
Kazushi TakahashiDepartment of Neurology, Tokyo Metropolitan Neurological Hospital, Japan.
Tokyo Metropolitan Neurological Hospital · JPTokyo Women's Medical University · JP

Funding

No grant is acknowledged in the PubMed record.

6 · The paper itself

Abstract

KMT2B-related dystonia (DYT28, DYT-KMT2B) is an inherited dystonia that generally begins in the lower limbs during childhood and evolves into generalized dystonia. We herein report a case of adult-onset DYT28 with dystonic tremor. A 27-year-old woman initially displayed right upper limb and cervical tremors over the course of 1 year. A neurological examination also revealed cervical and lower limb dystonia. Although the disease generally develops during childhood, we diagnosed the woman with DYT28, as genetic testing revealed a mutation in KMT2B. Adult-onset patients with DYT28 might also show uncommon symptoms as well as DYT-TOR1A (DYT1).

Indexed as

DystoniaDystonic DisordersAdultFemaleHistone-Lysine N-MethyltransferaseHumansMolecular ChaperonesMutationTremorHistone-Lysine N-MethyltransferaseKMT2B protein, humanMolecular ChaperonesTOR1A protein, humandystoniadystonic tremorDYT28KMT2B-related dystonia

Identifiers

PMID35022352
PMCPMC9424094
OpenAlexW4205894735

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.