Premium
Update on genetics of essential tremor
Author(s) -
JiménezJiménez F. J.,
AlonsoNavarro H.,
GarcíaMartín E.,
LorenzoBetancor O.,
Pastor P.,
Agúndez J. A. G.
Publication year - 2013
Publication title -
acta neurologica scandinavica
Language(s) - English
Resource type - Journals
SCImago Journal Rank - 0.967
H-Index - 95
eISSN - 1600-0404
pISSN - 0001-6314
DOI - 10.1111/ane.12148
Subject(s) - concordance , essential tremor , genetics , twin study , etiology , exome sequencing , genetic association , genetic linkage , biology , monozygotic twin , dizygotic twins , family studies , medicine , heritability , bioinformatics , gene , mutation , single nucleotide polymorphism , pathology , neuroscience , genotype , obstetrics
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 LINGO 1 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 .