ArticleCNS neuroscience & therapeutics2020
Genetic testing of FUS, HTRA2, and TENM4 genes in Chinese patients with essential tremor.
Article in CNS neuroscience & therapeutics, 2020. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Cited by 10 papers.
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Who cites it
10 citing papers in PubMed, 9 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
- Genetic Basis of Motor Neuron Diseases: Insights, Clinical Management, and Future Directions.International journal of molecular sciences · 2025Review
- 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
- Review
- Genetic and functional analysis revealsiScience · 2021Article
- Genomic Markers for Essential Tremor.Pharmaceuticals (Basel, Switzerland) · 2021Review
- Rare variant analysis of essential tremor-associated genes in early-onset Parkinson's disease.Annals of clinical and translational neurology · 2021Article
- Genetic testing of FUS, HTRA2, and TENM4 genes in Chinese patients with essential tremor.CNS neuroscience & therapeutics · 2020Article
- Parkinson's Disease in Teneurin Transmembrane Protein 4 (Frontiers in genetics · 2020Article
- A Han Chinese Family With Early-Onset Parkinson's Disease Carrying Novel Frameshift Mutation and Compound Heterozygous Mutation ofFrontiers in neurology · 2020Article
Corrections and comments
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Authors and funding
11 authors at 3 institutions in 1 country.
Funding
No grant is acknowledged in the PubMed record.
Abstract
introductionEssential tremor (ET) is one of the most prevalent movement disorders. The genetic etiology of ET has not been well defined although a significant proportion (≥50%) are familial cases. Linkage analysis and genome-wide association studies (GWASs) have identified several risk variants. In recent years, whole-exome sequencing of ET has revealed several specific causal variants in FUS (p.Q290X), HTRA2 (p.G399S), and TENM4 (c.4324 G>A, c.4100C>A, and c.3412G>A) genes.
objectiveTo investigate the genetic contribution of these three genes to ET, the protein-coding sequences of FUS, HTRA2, and TENM4 were analyzed in a total of 238 ET patients and 272 controls from eastern China using direct Sanger sequencing.
resultsWe identified two synonymous coding single nucleotide polymorphisms (SNPs), rs741810 and rs1052352 in FUS, and three previously reported synonymous SNPs, rs11237621, rs689369, and rs2277277 in TENM4. No nonsynonymous exonic variants were identified in these subjects. We found that the frequency of the rs1052352C allele was significantly higher (P = .001) in the ET group than in the control group.
conclusionOverall, our findings suggest that rs1052352 of FUS might contribute to ET risk in Chinese population.
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