Genetics of essential tremor.
Essential tremor (ET), the cause of which remains poorly understood, is one of the most common neurological disorders. While environmental agents have been proposed to play a role, genetic factors are believed to contribute to its onset. Thus far, three gene loci (ETM1 on 3q13, ETM2 on 2p24.1 and a locus on 6p23) have been identified in patients and families with the disorder. In addition, a Ser9Gly variant in the dopamine D3 receptor gene on 3q13 has been suggested to be a risk factor. Moreover, genetically deficient animal models express a phenotype that overlaps with some clinical characteristics of the human form of the illness. Further analyses of these genetic abnormalities may lead to the identification of causative mutations and a better understanding of the molecular mechanisms in this common movement disorder.
Deng
Hao
H
Department of Neurology, Baylor College of Medicine, Houston, TX 77030, USA.
Le
Weidong
W
Jankovic
Joseph
J
D000293:Adolescent; D000328:Adult; D000368:Aged; D000818:Animals; D004195:Disease Models, Animal; D004421:Dystonia / Q000235:genetics; D020329:Essential Tremor / Q000235:genetics*; D005260:Female; D020022:Genetic Predisposition to Disease; D006801:Humans; D008297:Male; D008875:Middle Aged; D009154:Mutation; D010300:Parkinson Disease / Q000235:genetics; D050637:Receptors, Dopamine D3 / Q000235:genetics; D012307:Risk Factors
D050637:Receptors, Dopamine D3