ArticleEuropean journal of human genetics : EJHG2016
Identification of candidate genes for familial early-onset essential tremor.
Article in European journal of human genetics : EJHG, 2016. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Cited by 23 papers.
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Who cites it
23 citing papers in PubMed, 42 citations in OpenAlex.
- A heterozygous variation of PINK1 is potentially associated with essential tremor in a Chinese family.Neurogenetics · 2025Article
- Gene Expression Analysis of Laser-Captured Purkinje Cells in the Essential Tremor Cerebellum.Cerebellum (London, England) · 2023Article
- A NovelGenes · 2023Article
- Association Analysis of 27 Single Nucleotide Polymorphisms in a Chinese Population with Essential Tremor.Journal of molecular neuroscience : MN · 2023Article
- T-type calcium channels as therapeutic targets in essential tremor and Parkinson's disease.Annals of clinical and translational neurology · 2023Review
- O-GlcNAcylation Is Required for the Survival of Cerebellar Purkinje Cells by Inhibiting ROS Generation.Antioxidants (Basel, Switzerland) · 2023Article
- Essential tremor.Nature reviews. Disease primers · 2021Review
- Genomic Markers for Essential Tremor.Pharmaceuticals (Basel, Switzerland) · 2021Review
- Exome-wide rare variant analysis in familial essential tremor.Parkinsonism & related disorders · 2021Article
- Rare variant analysis of essential tremor-associated genes in early-onset Parkinson's disease.Annals of clinical and translational neurology · 2021Article
- Altered Expression of Ion Channels in White Matter Lesions of Progressive Multiple Sclerosis: What Do We Know About Their Function?Frontiers in cellular neuroscience · 2021Review
- Candidate variants in TUB are associated with familial tremor.PLoS genetics · 2020Article
- Gene expression analysis of the cerebellar cortex in essential tremor.Neuroscience letters · 2020Article
- Essential tremor pathology: neurodegeneration and reorganization of neuronal connections.Nature reviews. Neurology · 2020Review
- Current Opinions and Consensus for Studying Tremor in Animal Models.Cerebellum (London, England) · 2019Review
- Article
- Climbing fiber-Purkinje cell synaptic pathology across essential tremor subtypes.Parkinsonism & related disorders · 2018Article
- A Drosophila Model of Essential Tremor.Scientific reports · 2018Article
- [Genetics of tremor].Der Nervenarzt · 2018Review
- MiR-19b alleviates MPPRSC advances · 2018Article
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Authors and funding
9 authors at 2 institutions in 1 country.
Funding
Abstract
Essential tremor (ET) is one of the most common causes of tremor in humans. Despite its high heritability and prevalence, few susceptibility genes for ET have been identified. To identify ET genes, whole-exome sequencing was performed in 37 early-onset ET families with an autosomal-dominant inheritance pattern. We identified candidate genes for follow-up functional studies in five ET families. In two independent families, we identified variants predicted to affect function in the nitric oxide (NO) synthase 3 gene (NOS3) that cosegregated with disease. NOS3 is highly expressed in the central nervous system (including cerebellum), neurons and endothelial cells, and is one of three enzymes that converts l-arginine to the neurotransmitter NO. In one family, a heterozygous variant, c.46G>A (p.(Gly16Ser)), in NOS3, was identified in three affected ET cases and was absent in an unaffected family member; and in a second family, a heterozygous variant, c.164C>T (p.(Pro55Leu)), was identified in three affected ET cases (dizygotic twins and their mother). Both variants result in amino-acid substitutions of highly conserved amino-acid residues that are predicted to be deleterious and damaging by in silico analysis. In three independent families, variants predicted to affect function were also identified in other genes, including KCNS2 (KV9.2), HAPLN4 (BRAL2) and USP46. These genes are highly expressed in the cerebellum and Purkinje cells, and influence function of the gamma-amino butyric acid (GABA)-ergic system. This is in concordance with recent evidence that the pathophysiological process in ET involves cerebellar dysfunction and possibly cerebellar degeneration with a reduction in Purkinje cells, and a decrease in GABA-ergic tone.
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Registered trials
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