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Brain Advance Access published online on March 12, 2007
Brain, doi:10.1093/brain/awm018
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© 2007 The Author(s)
This is an Open Access article distributed under the terms of the Creative Commons Attribution Non-Commercial use License (http://creativecommons.org/lisences/by-nc/2.0/uk/) which permits unrestricted non-commercial use, distributed, and reproduction in medium, provided the original work is properly cited.

Genetics of essential tremor

Hao Deng, Weidong Le and Joseph Jankovic

Department of Neurology, Baylor College of Medicine, Houston, TX, USA

Correspondence to: Joseph Jankovic, MD, Parkinson's Disease Center and Movement Disorders Clinic, Department of Neurology, Baylor College of Medicine, 6550 Fannin, Suite 1801, Houston, TX 77030, USA E-mail: josephj{at}bcm.tmc.edu

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.

Key Words: essential tremor; genetics; dopamine D3 receptor gene; variant; autosomal dominant; non-Mendelian inheritance

Abbreviations: ADCA, autosomal dominant cerebellar ataxia; AIS, androgen insensitivity syndrome; AR, androgen receptor gene; CAP2, adenylate cyclase-associated protein 2 gene; CMT, Charcot–Marie–Tooth; CMTX, X-linked Charcot–Marie–Tooth; CYP2D6, cytochrome P450IID6; C6orf79, chromosome 6 open reading frame 79 gene; DRD3, dopamine D3 receptor gene; DTNBP1, dystrobrevin binding protein 1 gene; ERK1, 2, extracellular signal-regulated kinase 1, 2; ET, essential tremor; FMR1, fragile X mental retardation 1 gene; FXTAS, fragile X-associated tremor/ataxia syndrome; Gabra1, gamma-aminobutyric acid A receptor {alpha}1; GAT1, GABA transporter subtype 1; GFOD1, glucose–fructose oxidoreductase domain containing protein 1 gene; GMPR, guanosine monophosphate reductase gene; HMSN, hereditary motor and sensory neuropathy; HS1BP3, HS1-binding protein 3 gene; JARID2, Jumonji AT rich interactive domain 2 gene; JNK, c-Jun NH2-terminal kinase; LD, linkage disequilibrium; LRRK2, leucine-rich repeat kinase 2 gene; MAPK, mitogen-associated protein kinase; MCR, minimal critical region; MTHFR, methylenetetrahydrofolate reductase gene; MYLIP, myosin regulatory light chain interacting protein gene; NACP, alpha-synuclein gene; NHLRC1, Nhl repeat-containing gene 1; NOL7, nucleolar protein 7 gene; PHACTR1, phosphatase and actin regulator 1 gene; PMP2, peripheral myelin protein-22 gene; RANBP9, RAN binding protein 9 gene; SAPK, stress-activated protein kinase; SCA1, 12, spinocerebellar ataxia gene, type 1, type 12; SIRT5, silent mating-type information regulation-2 homologue 5 gene; SMAX1, X-linked spinal and bulbar muscular atrophy, type 1; TBCID7, TBCI domain family, member 7 gene

Received August 8, 2006. Revised January 6, 2007. Accepted January 8, 2007.


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