Other Names for this Disease
- Benign essential tremor
- Familial essential tremor
- Hereditary essential tremor
- Presenile tremor syndrome
- Tremor, hereditary essential, 1
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Some studies have found the DRD3 gene to be associated with essential tremor. The DRD3 gene provides instructions for making a protein called dopamine receptor D3, which is found in the brain. This protein responds to a chemical messenger (neurotransmitter) called dopamine to trigger signals within the nervous system, including signals involved in producing physical movement. A DRD3 variant seen in some families affected by essential tremor may cause the corresponding dopamine receptor D3 protein to respond more strongly to the neurotransmitter, possibly causing the involuntary shaking seen in this condition.
In other studies, the gene HS1BP3 has also been associated with essential tremor. The HS1BP3 gene provides instructions for making a protein called hematopoietic-specific protein 1 binding protein 3. This protein is believed to help regulate chemical signaling in the brain region involved in coordinating movements (the cerebellum) and in specialized nerve cells in the brain and spinal cord that control the muscles (motor neurons). An HS1BP3 variant has been identified in some families affected by essential tremor, but it has also been found in unaffected people. It is unknown what relationship, if any, this genetic change may have to the signs and symptoms of this condition.Exactly what causes essential tremor in people without a known genetic mutation isn't clear. Environmental factors may be involved.
- Essential tremor. Genetics Home Reference (GHR). 2008; http://ghr.nlm.nih.gov/condition=essentialtremor. Accessed 5/5/2013.
- Essential tremor. MayoClinic.com. 2013; http://www.mayoclinic.com/print/essential-tremor/DS00367/METHOD=print&DSECTION=all. Accessed 5/5/2013.