Evidence map›Paper›PMID 39801809›Full record

ArticleTremor and other hyperkinetic movements (New York, N.Y.)2025

Pathogenic Variant in the 5'-Untranslated Region of

Yanting Li, Mingqiang Li, Lanqing Liu, Qiying Sun, Guang Yang

Abstract readCase Reports
PubMed Full text at PMC Publisher
In one paragraph

Article in Tremor and other hyperkinetic movements (New York, N.Y.), 2025. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Cited by 2 papers, 1 of them a synthesis that pooled it.

0numbers the graph read from it
0cells of the map it votes in
2citing papers in PubMed, 1 pooled it
–field-weighted citation impact
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 synthesis or guideline pooled it.

  1. Pooled it
  2. medRxiv : the preprint server for health sciences · 2026
    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

5 authors.

Yanting LiDepartment of Geriatric Neurology, Xiangya Hospital, Central South University, Changsha, Hunan, 410008, China.ORCID 0009-0006-9722-7456
Mingqiang LiDepartment of Neurology, The First Affiliated Hospital of University of South China, Hengyang, Hunan, 421001, China.ORCID 0009-0000-4127-847X
Lanqing LiuDepartment of Geriatric Neurology, Xiangya Hospital, Central South University, Changsha, Hunan, 410008, China.ORCID 0009-0001-8796-8182
Qiying SunDepartment of Geriatric Neurology, Xiangya Hospital, Central South University, Changsha, Hunan, 410008, China.ORCID 0000-0002-2031-8345
Guang YangDepartment of General Medicine, Xiangya Hospital, Central South University, Changsha, Hunan 410008, China.ORCID 0000-0002-2128-2073

Funding

No grant is acknowledged in the PubMed record.

6 · The paper itself

Abstract

Background: Variants in the Methods: Comprehensive neurological assessments documented motor and non-motor symptoms in a Chinese family affected by DRD. Whole-exome sequencing (WES) was employed to identify potential mutations, with key variants confirmed by Sanger sequencing and analyzed for familial co-segregation. Results: The proband, a 50-year-old woman with a 10-year history of limb rigidity, abnormal posture, and a 23-year history of neck deviation, showed significant symptom improvement with levodopa treatment. Family evaluation revealed similar motor symptoms in four additional affected members, all responding well to levodopa. WES identified a Discussion: This study reports a pathogenic variant in the 5' UTR of Highlights: A non-coding variant (c.-22C > T) in the 5' UTR of the

Indexed as

5' Untranslated RegionsDystonic DisordersGTP CyclohydrolaseAdultChinaEast Asian PeopleExome SequencingFemaleHumansLevodopaMaleMiddle AgedMutationPedigree5' Untranslated RegionsGCH1 protein, humanGTP CyclohydrolaseLevodopa5’-Untranslated regionDopa-responsive dystoniaGCH1 genephathogenic variantphenotype-genotype correlation

Identifiers

PMID39801809
PMCPMC11720937

What OpenQuestion holds

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Registered trials

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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.