Evidence map›Paper›PMID 40898742›Full record

ArticleBrain and behavior2025

PRKN/PINK1 Mutations in a Chinese Patient With Early-Onset Parkinson's Disease.

Zhongjiao Lu, Ye Sun, Liemei Guo, Mei Xin, Yunlan Du, Ruolian Dai, Gang Chen, Hualong Wang, Gang Wang

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

Article in Brain and behavior, 2025. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Cited by 1 paper.

0numbers the graph read from it
0cells of the map it votes in
1citing papers in PubMed
–field-weighted citation impact
1 · What the graph read from it

What it found

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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

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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

1 citing paper in PubMed.

  1. Article
4 · The record

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5 · Who and what money

Authors and funding

9 authors.

Zhongjiao LuDepartment of Neurology, Renji Hospital, School of Medicine, Shanghai Jiao Tong University, Shanghai, China.
Ye SunDepartment of Neurology, Renji Hospital, School of Medicine, Shanghai Jiao Tong University, Shanghai, China.
Liemei GuoDepartment of Neurosurgery, Renji Hospital, School of Medicine, Shanghai Jiao Tong University, Shanghai, China.
Mei XinDepartment of Nuclear Medicine, Renji Hospital, School of Medicine, Shanghai Jiao Tong University, Shanghai, China.
Yunlan DuDepartment of Neurology, Renji Hospital, School of Medicine, Shanghai Jiao Tong University, Shanghai, China.
Ruolian DaiDepartment of Neurology, Renji Hospital, School of Medicine, Shanghai Jiao Tong University, Shanghai, China.
Gang ChenDepartment of Neurology, Renji Hospital, School of Medicine, Shanghai Jiao Tong University, Shanghai, China.
Hualong WangDepartment of Neurology, Renji Hospital, School of Medicine, Shanghai Jiao Tong University, Shanghai, China.
Gang WangDepartment of Neurology, Renji Hospital, School of Medicine, Shanghai Jiao Tong University, Shanghai, China.

Funding

National Natural Science Foundation of China 82001446National Natural Science Foundation of China 82303136Shanghai Young Eagle Project
6 · The paper itself

Abstract

backgroundPRKN and PINK1 gene mutations have been associated with Parkinson's disease (PD), particularly early-onset PD (EOPD).

objectivesTo describe the clinical and molecular features of a Chinese patient with EOPD who had uncommon PRKN and PINK1 mutations.

methodsThe patient's clinical history was reviewed, and whole-exome sequencing was performed to identify genetic mutations. An in vitro mitochondrial stress model was created to study the impact of PRKN deletion on the PINK1-PRKN pathway.

resultsThe patient exhibited a 27-year history of tremors and other motor symptoms, with a notable response to levodopa and subthalamic nucleus deep brain stimulation (STN DBS). Genetic testing revealed an unusual double mutation of PRKN/PINK1, while PRKN deletion blocked the activation of the PINK1-PRKN pathway, disrupting the patient's mitophagy pathway.

conclusionsPRKN/PINK1 mutations may be linked to compromised mitophagy pathways. Genetic screening is significant for EOPD patients, especially those with specific symptoms and ethnic backgrounds.

Indexed as

Parkinson DiseaseProtein KinasesUbiquitin-Protein LigasesAge of OnsetChinaEast Asian PeopleHumansMaleMiddle AgedMitophagyMutationPTEN-Induced Putative Kinaseparkin proteinProtein KinasesPTEN-Induced Putative KinaseUbiquitin-Protein Ligases

Identifiers

PMID40898742
PMCPMC12405661

What OpenQuestion holds

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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.