title: Genetics of essential tremor.
abstract: Essential tremor is one of the most common adult-onset movement disorders. While it is recognized that genes play a major role in ET with ≥50% of the affected individuals having a positive family history, identifying underlying genes in both monogenic and complex forms of ET has been a challenging task. Recent discoveries linking LINGO1, FUS and TENM4 to essential tremor have been met with cautious optimism since reproducibility and pathogenicity have been contentious in previously implicated genes. The lack of gold standard diagnostic criteria together with clinical and genetic heterogeneity have presented considerable obstacles. Nevertheless, future genetic studies should adopt a multi-prong genomic approach with adequate sample size, supported by both functional in vitro and in vivo studies. Elucidation of the pathophysiologic mechanism will lead to better therapeutic strategies and management.
authors.affiliation: National Neuroscience Institute, Singapore.
authors.forename: Murni
authors.initials: M
authors.lastname: Tio
authors.affiliation: National Neuroscience Institute, Singapore; Department of Neurology, Singapore General Hospital, Singapore; Department of Clinical Research, Singapore General Hospital, Singapore; Duke-NUS Graduate Medical School, Singapore. Electronic address: tan.eng.king@sgh.com.sg.
authors.forename: Eng-King
authors.initials: EK
authors.lastname: Tan
mesh_terms: D000818:Animals; D020329:Essential Tremor / Q000175:diagnosis* / Q000235:genetics*; D020022:Genetic Predisposition to Disease / Q000235:genetics*; D006801:Humans; D008565:Membrane Proteins / Q000235:genetics; D009419:Nerve Tissue Proteins / Q000235:genetics; D034702:RNA-Binding Protein FUS / Q000235:genetics
chemical_list: C000599550:FUS protein, human; C482293:LINGO1 protein, human; D008565:Membrane Proteins; D009419:Nerve Tissue Proteins; D034702:RNA-Binding Protein FUS; C113761:Tenm4 protein, mouse
keywords: Animal model; Cerebellum; Essential tremor; Genetic heterogeneity; Genetic mutations