Browse
Submit Data
Databases
API
Help

Dataset Information

0 Views

0 Connections

0 Citations

0 Reanalyses

0 Downloads

Omics score: 0

Blood transcriptional variation is associated with clinical and neuroimaging phenotypes in essential tremor

ABSTRACT: We examined whether peripheral blood gene expression differs in essential tremor (ET) and relates to clinical or neuroanatomical variation. Blood RNA-seq was analysed in 38 individuals with ET and 37 controls. Differential expression, phenotype associations, co-expression networks, and cross-tissue concordance with ET cerebellar RNA-seq were assessed. Four genes were significantly upregulated in ET: CXCL5, HSPB1, CLEC7A, and PRDX6. Diagnostic effects were otherwise limited, but within ET, gene expression showed stronger associations with cognition and regional brain structure, including immune, mitochondrial, and erythroid/vascular transcriptional modules. Blood RNA-seq shows modest diagnostic differences in ET but more substantial transcriptional associations with phenotypic heterogeneity.

ORGANISM(S): Homo sapiens

PROVIDER: GSE344274 | GEO | 2026/09/16

REPOSITORIES: GEO

ACCESS DATA

Json Xml

Dataset's files

Source:

			Action	DRS
		Other

Items per page:

1 - 1 of 1

Similar Datasets

Next Generation Sequencing Facilitated Cerebellum DNA Methylation Analysis of Essential Tremor Patients

Project description:We report the RRBS-based cerebellum DNA methylation profiling of essential tremor (ET) patients and controls. By obtaining over thirty billion bases of sequence from bisulfited-converted DNA, we generated genome-wide methylation profile of human cerebellum tissue. We identified differential DNA methylation patterns in 735 genes at various gene parts, across 12 ET patients. Many of those differentially methylated CpGs in ET patients are located in upstream regulatory regions of genes. We further found that many differentially methylated genes in ET pateints are associated with neurodegenerative disease. This study provided a framework towards understanding epigenetic alteration in cerebellum of essnetial tremor patients.

2020-02-04 | GSE134426 | GEO

Dysfunction of GABAergic neurons in the adult ventral nerve cord underlies SCA3- associated tremor in Drosophila melanogaster

Project description:Tremor is a common movement disorder associated with several neurodegenerative diseases. Despite its prevalence, its underlying mechanisms are not well understood. We previously examined motor defects in a Drosophila model of Machado Joseph disease (MJD), also known as Spinocerebellar ataxia 3 (SCA3). We found that the SCA3 fly model exhibits distinct gait and tremor signatures analogous to human SCA3 motor dysfunctions, and can hence be used to investigate the neurogenetic mechanisms of SCA3 tremor1. Here, we identify and characterise the neuronal populations involved in SCA3-associated tremor. Through a genetic screen, we identified a population of neurons in the ventral nerve cord (VNC) whose dysfunction is sufficient to generate tremor. Adult-onset expression of mutant ATXN3 in a subset of these neurons leads to tremor. RNAseq and functional experiments provide evidence that dysfunction of GABAergic neurons, and not other neurotransmitter populations tested, causes tremor. We found that a subset of ~30 of these VNC neurons, ~80% of which are GABAergic, are required for smooth motor control of walking in the fly, as their dysfunction causes tremor. Therefore, tremor in the SCA3 fly model is primarily caused by dysfunction of GABAergic neurons in the adult ventral nerve cord.

2026-08-29 | GSE275248 | GEO

Dysfunction of GABAergic neurons in the adult ventral nerve cord underlies SCA3-associated tremor in Drosophila melanogaster [rna0426]

2026-08-29 | GSE275250 | GEO

Gene Expression Analysis of Essential Tremor via RNA-sequencing

Project description:RNA-seq evaluation of post-mortem human cerebelllum from 33 patients with diagnosed Essential tremor, compared to 22 age-matched control patients. Two samples were under-sequenced and therefore removed from the final analysis. The raw data has been included in this submission.

2019-07-26 | GSE134878 | GEO

Transcriptomic changes resulting from STK32B overexpression identifies pathways potentially relevant to essential tremor

Project description:We report RNA sequencing of overexpressed STK32B in DAOY cells compared to matched controls, with 200M reads per sample. We identified approximately 4000 differentially expressed genes and potential pathways relevant to essential tremor.

2020-05-13 | GSE150393 | GEO

Family Study of Essential Tremor (FASET)

Project description:<p>The Familial Study of Essential Tremor (FASET) was designed to identify susceptibility genes for Essential Tremor. ET is among the most common neurological diseases with a prevalence (age > 40 years) estimated to be 4.0% and prevalence in advanced age (' 90 years) exceeding 20%. ET, often referred to as "familial tremor", is generally regarded as a highly genetic disorder with families with affecteds over multiple generations, and twin studies showing high concordance among monozygotic twins. Probands (affected with ET) and relatives were enrolled in a family study of ET at Columbia University, New York between 2011 - 2014. The study was approved by the Institutional Review Board at Columbia University and written informed consent was obtained from all enrollees. The criteria for enrollment were: 1) the proband had early-onset ET with age at onset < 50 years, 2) the proband had a diagnoses of definite or probable ET, 3) in addition to the proband there were at least two affected relatives in the family, 4) additional affected and unaffected family members were willing to participate in the study, and 5) the families contained more than two affected individuals in different generations. Blood samples were also collected for genetic research. For the genetic analyses, we excluded enrollees whom we or others had diagnosed with Parkinson's disease (PD) or dystonia. The final sample includes 52 families (52 probands [affected with ET]) and 155 relatives). The number of affected individuals enrolled per family ranged from 3 - 7 (mean = 4.1). Genetic samples from FASET were analyzed with whole genome SNP genotyping (for linkage analyses) and whole exome sequencing. It is hoped that this resource will better help researchers to understand the genetic causes of ET and underlying disease pathogenesis.</p>

| phs000966 | dbGaP