Evidence map›Paper›PMID 36933031›Full record

ArticleJournal of neurology2023

Mutation screening of AOPEP variants in a large dystonia cohort.

Junyu Lin, Chunyu Li, Yiyuan Cui, Yanbing Hou, Lingyu Zhang, Ruwei Ou, Qianqian Wei, Kuncheng Liu, Rui Huang, Tianmi Yang and 5 more

Abstract read
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In one paragraph

Article in Journal of neurology, 2023. 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
1.2field-weighted citation impact, top 25% 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, 8 citations in OpenAlex.

  1. AOPEP-Related Dystonia with Supranuclear Vertical Gaze Palsy.Movement disorders clinical practice · 2025
    Article
  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

15 authors at 2 institutions in 1 country.

Junyu Lin *Laboratory of Neurodegenerative Disorders, Department of Neurology, Rare Disease Center, West China Hospital, Sichuan University, No 37, Guo Xue Road, Chengdu, 610041, Sichuan, China.
Chunyu Li *Laboratory of Neurodegenerative Disorders, Department of Neurology, Rare Disease Center, West China Hospital, Sichuan University, No 37, Guo Xue Road, Chengdu, 610041, Sichuan, China.
Yiyuan CuiLaboratory of Neurodegenerative Disorders, Department of Neurology, Rare Disease Center, West China Hospital, Sichuan University, No 37, Guo Xue Road, Chengdu, 610041, Sichuan, China.
Yanbing HouLaboratory of Neurodegenerative Disorders, Department of Neurology, Rare Disease Center, West China Hospital, Sichuan University, No 37, Guo Xue Road, Chengdu, 610041, Sichuan, China.
Lingyu ZhangLaboratory of Neurodegenerative Disorders, Department of Neurology, Rare Disease Center, West China Hospital, Sichuan University, No 37, Guo Xue Road, Chengdu, 610041, Sichuan, China.
Ruwei OuLaboratory of Neurodegenerative Disorders, Department of Neurology, Rare Disease Center, West China Hospital, Sichuan University, No 37, Guo Xue Road, Chengdu, 610041, Sichuan, China.
Qianqian WeiLaboratory of Neurodegenerative Disorders, Department of Neurology, Rare Disease Center, West China Hospital, Sichuan University, No 37, Guo Xue Road, Chengdu, 610041, Sichuan, China.
Kuncheng LiuLaboratory of Neurodegenerative Disorders, Department of Neurology, Rare Disease Center, West China Hospital, Sichuan University, No 37, Guo Xue Road, Chengdu, 610041, Sichuan, China.
Rui HuangDepartment of Neurology, Sichuan Academy of Medical Science and Sichuan Provincial People's Hospital, Chengdu, Sichuan Province, China.
Tianmi YangLaboratory of Neurodegenerative Disorders, Department of Neurology, Rare Disease Center, West China Hospital, Sichuan University, No 37, Guo Xue Road, Chengdu, 610041, Sichuan, China.
Yi XiaoLaboratory of Neurodegenerative Disorders, Department of Neurology, Rare Disease Center, West China Hospital, Sichuan University, No 37, Guo Xue Road, Chengdu, 610041, Sichuan, China.
Qirui JiangLaboratory of Neurodegenerative Disorders, Department of Neurology, Rare Disease Center, West China Hospital, Sichuan University, No 37, Guo Xue Road, Chengdu, 610041, Sichuan, China.
Jing YangLaboratory of Neurodegenerative Disorders, Department of Neurology, Rare Disease Center, West China Hospital, Sichuan University, No 37, Guo Xue Road, Chengdu, 610041, Sichuan, China.
Xueping ChenLaboratory of Neurodegenerative Disorders, Department of Neurology, Rare Disease Center, West China Hospital, Sichuan University, No 37, Guo Xue Road, Chengdu, 610041, Sichuan, China.
Huifang ShangLaboratory of Neurodegenerative Disorders, Department of Neurology, Rare Disease Center, West China Hospital, Sichuan University, No 37, Guo Xue Road, Chengdu, 610041, Sichuan, China. hfshang2002@126.com.ORCID http://orcid.org/0000-0003-0947-1151
Sichuan University · CNSichuan Academy of Medical Sciences & Sichuan Provincial People's Hospital · CN

Funding

Sichuan Provincial Key Laboratory of Shock and Vibration of Engineering Materials and Structures, Southwest University of Science and Technology 2020YJ0457Sichuan Science and Technology Program 2022ZDZX0023
6 · The paper itself

Abstract

STUDY

objectivesRecently, AOPEP has been identified to be a novel causative gene of autosomal-recessive dystonia. However, no large cohort study has been conducted to confirm the association. We aimed to systematically evaluate the genetic associations of AOPEP with dystonia in a large Chinese dystonia cohort.

methodsWe analyzed rare variants of AOPEP in 878 dystonia patients with whole-exome sequencing. The over-representation of rare variants in patients was examined with Fisher's exact test at allele and gene levels.

resultsAmong the 878 patients with dystonia, we found two patients with biallelic likely pathogenic variants in the AOPEP gene. One patient carried putative compound heterozygous variants (p.A212D and p.G216R) and presented with childhood-onset segmental dystonia involving the upper limbs and craniocervical muscles accompanied by myoclonus of the dystonia affected areas. One patient carried homozygote of p.M291Nfs*68 and presented with adult-onset isolated cervical dystonia. Another 15 patients were identified to carry heterozygous rare variants in AOPEP, including 2 loss-of-function variants (p.M291Nfs*68 and p.R493X) and 6 missense variants. One loss-of-function variant (p.R493X) was the same as previously reported. Nearly, all of the 15 patients carrying heterozygous variants in AOPEP presented with isolated dystonia with only craniocervical muscles affected, except for one patient who carried the p.R493X variant presented with segmental dystonia affecting the neck and right upper limb combined with parkinsonism. Gene-based burden analysis detected enrichment of rare variants and rare damaging variants of AOPEP in dystonia.

conclusionsOur study supplemented the evidence on the role of AOPEP in autosomal-recessive dystonia in Chinese population, and expanded the genotypic and phenotypic spectrum of AOPEP.

Indexed as

Dystonic DisordersTorticollisAdultChildCohort StudiesGenotypeHumansMutationAOPEPBurden analysisDystoniaRare variant

Identifiers

PMID36933031
OpenAlexW4327811285

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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.