The risk of essential tremor has a heritable component, but the genetic variants that contribute to the risk of the disease have remained unknown, and the molecular pathophysiology of the disorder is poorly understood. Now, a new genome-wide association study of 2,807 patients with essential tremor and 6,447 controls has identified novel risk loci for the disorder. After correction for population stratification and multiple testing, variants in the serine/threonine kinase gene STK32B and the transcriptional coactivator gene PPARGC1A emerged as candidate molecular genetic determinants for essential tremor. However, the results require replication in an independent study.
References
Müller, S. H. et al. Genome-wide association study in essential tremor identifies three new loci. Brain http://dx.doi.org/10.1093/brain/aww242 (2016)
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Malkki, H. Novel genetic risk variants for essential tremor. Nat Rev Neurol 12, 679 (2016). https://doi.org/10.1038/nrneurol.2016.176
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DOI: https://doi.org/10.1038/nrneurol.2016.176