ArticleAnnals of clinical and translational neurology2021
Rare variant analysis of essential tremor-associated genes in early-onset Parkinson's disease.
Article in Annals of clinical and translational neurology, 2021. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Cited by 6 papers.
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6 citing papers in PubMed, 7 citations in OpenAlex.
- Genetic Variants and Clinical Characteristics of Young-Onset Parkinson's Disease in the Hakka Population of Western Fujian.Brain and behavior · 2026Article
- At the extreme limits of L-DOPA therapy: probable dopamine dysregulation and psychiatric complications in Parkinson's disease.BMJ neurology open · 2026Article
- Dysregulated circRNA-miRNA-mRNA networks reveal stage-specific mRNA expression changes in Parkinson's disease.Molecular brain · 2025Article
- Association Analysis of Essential Tremor-Associated Genetic Variants in Sporadic Late-Onset Parkinson's Disease.Tremor and other hyperkinetic movements (New York, N.Y.) · 2024Article
- Han family with essential tremor caused by the P421L variant of the TENM4 gene in China.Neurological sciences : official journal of the Italian Neurological Society and of the Italian Society of Clinical Neurophysiology · 2023Article
- A proteogenomic view of Parkinson's disease causality and heterogeneity.NPJ Parkinson's disease · 2023Article
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Authors and funding
16 authors at 1 institution in 2 countries.
Funding
No grant is acknowledged in the PubMed record.
Abstract
objectiveParkinson's disease (PD) and essential tremor (ET) are the two most common movement disorders. A significant overlap in clinical features, epidemiology, imaging, and pathology suggests that PD and ET may also share common genetic risk factors. Previous studies have only assessed a limited number of ET-associated genes in PD patients and vice versa. Consequently, the genetic association between PD and ET remains incompletely characterized. In this study, we systematically investigated a potential association between rare coding variants in ET-associated genes and PD, in a relatively large Chinese population cohort.
methodsTo investigate the genetic association between ET and PD, we performed the sequence kernel association testing (SKAT-O) to explore the variant burden of 33 ET-associated genes, using whole-exome sequencing (WES) data from 1494 early-onset PD (EOPD) patients and 1357 control subjects from mainland China.
resultsWe report that rare loss-of-function and damaging missense variants of TNEM4 are suggestively associated with EOPD (P = 0.026), damaging missense variants of TNEM4 alone are also suggestively associated with EOPD (P = 0.032). No other rare damaging variants in ET-related genes were significantly associated with EOPD.
interpretationThis is the first systematic analysis of ET-associated genes in EOPD. The suggestive association between TNEM4 and EOPD provides new evidence for a genetic link between ET and PD.
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