Abstract
HighlightsIn the current review, we thoroughly reviewed 74 identified articles regarding genes and genetic loci that confer susceptibility to ET. Over 50 genes/genetic loci have been examined for possible association with ET, but consistent results failed to be reported raising the need for collaborative multiethnic studies.Background:Essential tremor (ET) is a common movement disorder, which is mainly characterized by bilateral tremor (postural and/or kinetic) in the upper limbs, with other parts of the body possibly involved. While the pathophysiology of ET is still unclear, there is accumulating evidence indicating that genetic variability may be heavily involved in ET pathogenesis. This review focuses on the role of genetic risk factors in ET susceptibility.Methods:The PubMed database was searched for articles written in English, for studies with humans with ET, controls without ET, and genetic variants. The terms “essential tremor” and “polymorphism” (as free words) were used during search. We also performed meta-analyses for the most examined genetic variants.Results:Seventy four articles concerning LINGO1, LINGO2, LINGO4, SLC1A2, STK32B, PPARGC1A, CTNNA3, DRD3, ALAD, VDR, HMOX1, HMOX2, LRRK1,LRRK2, GBA, SNCA, MAPT, FUS, CYPsIL17A, IL1B, NOS1, ADH1B, TREM2, RIT2, HNMT, MTHFR, PPP2R2B, GSTP1, PON1, GABA receptors and GABA transporter, HS1BP3, ADH2, hSKCa3 and CACNL1A4 genes, and ETM genetic loci were included in the current review. Results from meta-analyses revealed a marginal association for the STK32B rs10937625 and a marginal trend for association (in sensitivity analysis) for the LINGO1 rs9652490, with ET.Discussion:Quite a few variants have been examined for their possible association with ET. LINGO1 rs9652490 and STK32B rs10937625 appear to influence, to some extent, ET susceptibility. However, the conflicting results and the lack of replication for many candidate genes raise the need for collaborative multiethnic studies.
Highlights
Essential tremor (ET) is a common movement disorder, which is mainly characterized by bilateral tremor in the upper limbs, but can spread to other parts of the body [1, 2]
LINGO1 is thought to be implicated in neurite outgrowth, axonal regeneration, regulation of the myelination and neuronal survival [19], while its inactivation seems to protect from degeneration and enhance the survival of the neurons [3, 29, 30]
Over 50 genes/genetic loci have been examined for possible association with ET
Summary
Essential tremor (ET) is a common movement disorder, which is mainly characterized by bilateral tremor (postural and/or kinetic) in the upper limbs, but can spread to other parts of the body (e.g. jaw, head) [1, 2]. ET is a tremor manifesting during voluntary movements, with a frequency of 4–12-Hz, and usually manifests as mildly asymmetric [3]. Non-motor symptoms (e.g. REM-sleep behavior disorder, cognitive dysfunction, sensory abnormalities, dysautonomic symptoms, depression) may be present [4,5,6,7,8]. Few environmental factors have been implicated as possible risk factors for ET [10,11,12,13]. The consumption of b-carboline alkaloid, caffeine and ethanol, harmane, General Hospital of Larissa, Faculty of Medicine, School of Health Sciences, University of Thessaly, Viopolis 40500, Larissa, GR
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