Update on genetics of essential tremor

作者：Jimenez Jimenez F J^*; Alonso Navarro H; Garcia Martin E; Lorenzo Betancor O; Pastor P; Agundez J A G

来源：Acta Neurologica Scandinavica, 2013, 128(6): 359-371.

DOI：10.1111/ane.12148

• essential tremor
• genetics
• family history
• linkage studies
• genetic polymorphisms

Despite the research, few advances in the etiopathogenesis on essential tremor (ET) have been made to date. The high frequency of positive family history of ET and the observed high concordance rates in monozygotic compared with dizygotic twins support a major role of genetic factors in the development of ET. In addition, a possible role of environmental factors has been suggested in the etiology of ET (at least in non-familial forms). Although several gene variants in the LINGO1 gene may increase the risk of ET, to date no causative mutated genes have been identified. In this review, we summarize the studies performed on families with tremor, twin studies, linkage studies, case-control association studies, and exome sequencing in familial ET.

• 出版日期2013-12