Genomic Markers for Essential Tremor.
作者信息
Jiménez-Jiménez Félix Javier, Alonso-Navarro Hortensia, García-Martín Elena, Álvarez Ignacio, Pastor Pau, Agúndez José A G
机构信息
Section of Neurology, Hospital Universitario del Sureste, E28500 Arganda del Rey, Spain.
ARADyAL Instituto de Salud Carlos III, University Institute of Molecular Pathology Biomarkers, University of Extremadura, E10071 Caceres, Spain.
出版信息
Pharmaceuticals (Basel). 2021 May 27;14(6):516. doi: 10.3390/ph14060516.
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 studies in families with ET have identified 4 genes/loci for familial ET, although the responsible gene(s) have not been identified. Genome-wide association studies (GWAS) described several variants in , , , , and , related with ET, but none of them have been confirmed in replication studies. In addition, the case-control association studies performed for candidate variants have not convincingly linked any gene with the risk for ET. Exome studies described the association of several genes with familial ET (, , , , , , , , , , , , , , and ), but they were found only in singular families and, again, not found in other families or other populations, suggesting that some can be private polymorphisms. The search for responsible genes for ET is still ongoing.
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