Evidence map›Paper›PMID 35645773›Full record

ArticleFrontiers in aging neuroscience2022

Genetic Analysis of Patients With Early-Onset Parkinson's Disease in Eastern China.

Ping Hua, Yuwen Zhao, Qian Zeng, Lanting Li, Jingru Ren, Jifeng Guo, Beisha Tang, Weiguo Liu

Open access · goldAbstract read
In one paragraph

Article in Frontiers in aging neuroscience, 2022. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Cited by 16 papers, 1 of them a synthesis that pooled it.

0numbers the graph read from it
0cells of the map it votes in
16citing papers in PubMed, 1 pooled it
1.4field-weighted citation impact, top 18% 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

16 citing papers in PubMed, 1 synthesis or guideline pooled it, 17 citations in OpenAlex.

  1. Rethinking 'rare'Journal of Parkinson's disease · 2025
    Pooled it
  2. Article
  3. Review
  4. Article
  5. Article
  6. Article
  7. Article
  8. Article
  9. Understanding the genetics and neurology: an overview of adult neurogenetics.Asian biomedicine : research, reviews and news · 2025
    Review
  10. Article
  11. Article
  12. Article
  13. Genetic Testing of Movements Disorders: A Review of Clinical Utility.Tremor and other hyperkinetic movements (New York, N.Y.) · 2024
    Review
  14. Article
  15. Article
  16. Case Report: A case ofFrontiers in neuroscience · 2022
    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

8 authors at 4 institutions in 1 country.

Ping HuaDepartment of Neurology, Affiliated Nanjing Brain Hospital, Nanjing Medical University, Nanjing, China.
Yuwen ZhaoDepartment of Neurology, Xiangya Hospital, Central South University, Changsha, China.
Qian ZengDepartment of Neurology, Xiangya Hospital, Central South University, Changsha, China.
Lanting LiDepartment of Neurology, Affiliated Nanjing Brain Hospital, Nanjing Medical University, Nanjing, China.
Jingru RenDepartment of Neurology, Affiliated Nanjing Brain Hospital, Nanjing Medical University, Nanjing, China.
Jifeng GuoDepartment of Neurology, Xiangya Hospital, Central South University, Changsha, China.
Beisha TangDepartment of Neurology, Xiangya Hospital, Central South University, Changsha, China.
Weiguo LiuDepartment of Neurology, Affiliated Nanjing Brain Hospital, Nanjing Medical University, Nanjing, China.
Central South University · CNNanjing Brain Hospital · CNNanjing Medical University · CNXiangya Hospital Central South University · CN

Funding

No grant is acknowledged in the PubMed record.

6 · The paper itself

Abstract

Background: Genetic factors play an important role in the pathogenesis of early-onset Parkinson's disease (EOPD). To date, more than 20 pathogenic genes associated with Parkinson's disease (PD) have been identified. This study aims to explore the mutation spectrum of EOPD and the clinical characteristics of mutation carriers in eastern China. Methods: We recruited 155 unrelated EOPD patients, including 8 familial and 147 sporadic EOPD (age at onset ≤ 50 years). Overall, 24 known PD-associated genes were detected by whole exome sequencing and multiplex ligation-dependent probe amplification (MLPA) from patient samples. The genetic and clinical characteristics of pathogenic/likely pathogenic (P/LP) loci in this cohort were analyzed. Results: Overall, 14 (9.03%) patients were detected with P/LP variants distributed in seven genes. The most frequent mutation occurred in Conclusion: Early-onset Parkinson's disease patients from eastern China present a regional specific mutation spectrum. Analysis of larger patient cohorts is required to support these findings, and mechanistic studies of the four novel missense/non-sense mutations will clarify their role in the pathogenicity of EOPD.

Indexed as

Chinese populationearly onsetgeneticsParkinson’s diseasewhole exome sequencing

Identifiers

PMID35645773
PMCPMC9131032
OpenAlexW4280609932

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.