Gamma-aminobutyric acid (GABA) receptor rho (GABRR) polymorphisms and risk for essential tremor

  title={Gamma-aminobutyric acid (GABA) receptor rho (GABRR) polymorphisms and risk for essential tremor},
  author={Elena Garc{\'i}a-Mart{\'i}n and Carmen Martı́nez and Hortensia Alonso-Navarro and Juli{\'a}n Benito-Le{\'o}n and Oswaldo Lorenzo-Betancor and Pau P{\'a}stor and Inmaculada Puertas and Lluisa Rubio and Tom{\'a}s L{\'o}pez-Alburquerque and Jos{\'e} A. G. Ag{\'u}ndez and F{\'e}lix Javier Jim{\'e}nez‐Jim{\'e}nez},
  journal={Journal of Neurology},
Some clinical and experimental data suggest a possible role of gamma-aminobutyrate (GABA)-ergic mechanisms in the pathophysiology of essential tremor (ET), such as the improvement of ET with some GABAergic drugs and the development of an experimental model of ET in GABA A receptor alpha-1 knockout mice (postural and kinetic tremor and motor incoordination similar to human ET). To investigate the possible association between the GABA receptor subtype rho1, rho2, and rho3 (GABRR1, GABRR2, and… 

Gamma-aminobutyric acid (GABA) receptors genes polymorphisms and risk for restless legs syndrome

The possible role of gammaaminobutyric acid (GABA) in the pathophysiology of restless legs syndrome (RLS) is suggested by the symptomatic improvement achieved with GABAergic drugs. Thalamic GABA

Gamma-aminobutyric acid (GABA) receptors GABRA4, GABRE, and GABRQ gene polymorphisms and risk for migraine

GABRQ rs3810651 could play a role in the modification of age at onset of migraine, and positive family history of migraine and presence or absence of aura did not influence the frequencies of the genotypes of the three SNPs studied.

Gamma-aminobutyric acid GABRA4, GABRE, and GABRQ receptor polymorphisms and risk for essential tremor

The results of this study suggest that the single nucleotide polymorphisms studied in the GABRA4, GABRE, and GABRQ genes are not related to the risk for familial ET.

Vitamin D Receptor and Binding Protein Gene Variants in Patients with Essential Tremor.

Data from the current study suggest an association between GC rs7041 and VDR rs2228570 SNVs and ET risk, which is related to the age at onset of tremor in ET patients.

Missense Gamma-Aminobutyric Acid Receptor Polymorphisms Are Associated with Reaction Time, Motor Time, and Ethanol Effects in Vivo

Novel information is provided supporting a role of missense GABA-A receptor polymorphisms in reaction time, motor time and effects of low ethanol doses in vivo.

IL1B polymorphism is associated with essential tremor in Chinese population

One SNP was associated with the risk of ET in Chinese population after adjusting for age and gender: rs1143633 of IL1B (odds ratio [OR] =2.57, p = 0.003, recessive model), and the statistical result remained significant after Bonferroni correction.

Genomic Markers for Essential Tremor

There are many reports suggesting an important role of genetic factors in the etiopathogenesis of essential tremor (ET), encouraging continuing the research for possible genetic markers. Linkage

Delta‐amino‐levulinic acid dehydratase gene and essential tremor

This group reported decreased risk for ET in carriers of the minor alleles of the rs2071746 and rs1051308 SNPs in the haem‐oxygenases 1 and 2 (HMOX1 and HMOX2), respectively, involved in haem metabolism.

An Update On The Neurochemistry Of Essential Tremor.

The most consistent data regarding neurochemistry of ET are related with the GABAergic and glutamatergic systems, with a lesser contribution of adenosine and dopaminergic and adrenergic systems, while there is not enough evidence of a definite role of other neurotransmitter systems in ET.

The GABA Hypothesis in Essential Tremor: Lights and Shadows

  • A. Gironell
  • Biology
    Tremor and other hyperkinetic movements
  • 2014
The GABA hypothesis continues to be the most robust pathophysiological hypothesis to explain ET, and more studies are needed to clarify the neurodegenerative nature of the disease, to confirm the decrease of GABA activity in the cerebellum, and to test more therapies that enhance the GABA transmission specifically in the Cerebellum area.



Genetic essential tremor in gamma-aminobutyric acidA receptor alpha1 subunit knockout mice.

It is reported that gamma-aminobutyric acidA (GABA(A) receptor alpha1-/- mice exhibit postural and kinetic tremor and motor incoordination that is characteristic of essential tremor disease, and a mechanism of GABAergic dysfunction in the major motor pathway is elucidated.

Genetic analysis of the GABRA1 gene in patients with essential tremor

Genetic essential tremor in ?-aminobutyric acidA receptor a1 subunit knockout mice

It is reported that γ-aminobutyric acidA (GABAA) receptor α1–/– mice exhibit postural and kinetic tremor and motor incoordination that is characteristic of essential tremor disease.

Dopamine receptor D3 (DRD3) genotype and allelic variants and risk for essential tremor

The results suggest thatDRD3 genotype and the variant DRD3Gly allelic variant is associated with the risk for and age at onset of ET, and with therisk for voice tremor, in Caucasian Spanish people.

LINGO1 and LINGO2 variants are associated with essential tremor and Parkinson disease

A role for LINGO1 and LingerO2 in determining risk for and perhaps age at onset of ET and PD is supported and further studies are warranted to confirm these findings and to determine the pathogenic mechanisms involved.

Dopamine receptor D3 gene and essential tremor in large series of German, Danish and French patients

It is suggested that the Ser9Gly variant, located in the ETM1 locus on chromosome 3q13.3, is unlikely to be a causal factor for essential tremor, and the DRD3 variant was not found linked to the disease in a subset of informative ET families.

LINGO1 polymorphisms are associated with essential tremor in Europeans

Association between sequence variants in the LINGO1 gene and the ET phenotype in independent German and French ET samples is confirmed and gives further evidence that LingO1 acts as a susceptibility gene for ET.

Replication of the LINGO1 gene association with essential tremor in a North American population

This study independently confirms that the LINGO1 gene is a risk factor for ET in a Caucasian population in North America, and further shows that those with early-onset ET are likely to be at high risk.


The linkage disequilibrium (LD) of single nucleotide polymorphisms (SNPs) 100 kb up/downstream of the implicated LINGO1 SNP was determined and the SNP in a case control study in an Asian population was analyzed.

The effect of theophylline on essential tremor: The possible role of GABA