Evidence map›Paper›PMID 40947537›Full record

ArticleAnnals of clinical and translational neurology2025

Moyamoya Disease and the Risk of Parkinson's Disease.

Dallah Yoo, Jeong-Yong Shin, Rugyeom Lee, Jiwon Cheon, Ji Hun Kim, Doeun Kim, Jae-Kyung Won, In-Hwan Oh, Yunjong Lee, Tae-Beom Ahn

Abstract readCase Reports
In one paragraph

Article in Annals of clinical and translational neurology, 2025. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Not yet cited in PubMed.

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1 · What the graph read from it

What it found

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2 · The registry

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3 · Its place in the literature

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4 · The record

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5 · Who and what money

Authors and funding

10 authors.

Dallah YooDepartment of Neurology, Kyung Hee University Hospital, Kyung Hee University College of Medicine, Seoul, Republic of Korea.ORCID 0000-0002-9736-6118
Jeong-Yong ShinDepartment of Pharmacology, Sungkyunkwan University School of Medicine, Samsung Biomedical Research Institute (SBRI), Suwon, Republic of Korea.
Rugyeom LeeDepartment of Preventive Medicine, Kyung Hee University College of Medicine, Seoul, Republic of Korea.
Jiwon CheonDepartment of Pharmacology, Sungkyunkwan University School of Medicine, Samsung Biomedical Research Institute (SBRI), Suwon, Republic of Korea.
Ji Hun KimDepartment of Pharmacology, Sungkyunkwan University School of Medicine, Samsung Biomedical Research Institute (SBRI), Suwon, Republic of Korea.
Doeun KimDepartment of Pharmacology, Sungkyunkwan University School of Medicine, Samsung Biomedical Research Institute (SBRI), Suwon, Republic of Korea.
Jae-Kyung WonDepartment of Pathology, Seoul National University College of Medicine, Seoul National University Hospital, Seoul, Republic of Korea.
In-Hwan OhDepartment of Preventive Medicine, Kyung Hee University College of Medicine, Seoul, Republic of Korea.
Yunjong LeeDepartment of Pharmacology, Sungkyunkwan University School of Medicine, Samsung Biomedical Research Institute (SBRI), Suwon, Republic of Korea.
Tae-Beom AhnDepartment of Neurology, Kyung Hee University Hospital, Kyung Hee University College of Medicine, Seoul, Republic of Korea.

Funding

Bio & Medical Technology Development ProgramKorea Government (MSIT) RS-2024-00349023Korea Government (MSIT) RS-2024-00361688National Research Foundation of Korea (NRF)
6 · The paper itself

Abstract

objectivesMoyamoya disease (MMD) is a rare cerebrovascular disorder characterized by the progressive narrowing of arteries at the base of the brain, forming abnormal collateral vascular networks. While vascular parkinsonism is noted in MMD, its link to Parkinson's disease (PD) has not been explored. We aimed to determine whether the risk of PD is increased in patients with MMD and to identify the potential role of the RNF213 gene.

methodsWe report two cases of PD with a history of MMD associated with the Arg4810Lys variant of RNF213. Using the Korean National Health Insurance Service database, we studied the association between MMD and subsequent PD risk using Cox proportional hazards regression analysis. Moreover, we explored the interaction between α-synuclein and RNF213 proteins by overexpressing SNCA and RNF213 in SH-SY5Y cells. Furthermore, we confirmed the proximity of Lewy pathology and RNF213 proteins in postmortem brain tissues from three patients with PD and age-matched controls.

resultsAmong 16,830 patients aged ≥ 40 with MMD, 3415 were enrolled, excluding those with prior PD or stroke, along with a matched control group of 33,974. The analysis revealed an increased PD risk in patients with MMD (hazard ratio = 4.45 [3.40-5.82], p < 0.0001). Overexpression of RNF213 resulted in cytoplasmic inclusions, which were worsened by the co-expression of SNCA and the Arg4810Lys variant of RNF213. Histological studies confirmed the co-localization of α-synuclein aggregates and RNF213 proteins in PD brain tissues.

interpretationThis study confirms the heightened PD risk in patients with MMD and suggests a pathophysiological link through α-synuclein and RNF213 interactions.

Indexed as

Adenosine TriphosphatasesMoyamoya DiseaseParkinson DiseaseUbiquitin-Protein LigasesAdultAgedalpha-SynucleinFemaleHumansMaleMiddle AgedRepublic of KoreaAdenosine Triphosphatasesalpha-SynucleinRNF213 protein, humanSNCA protein, humanUbiquitin-Protein Ligasesalpha‐synucleinMoyamoya diseaseParkinson's diseaseRNF213the Korean National Health Insurance Service database

Identifiers

PMID40947537
PMCPMC12698949

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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.