The rs2228570 Variant of the Vitamin D Receptor Gene is Associated with Essential Tremor
Essential tremor (ET) is one of the most common movement disorders of unknown etiology [1, 2], having an overall prevalence of 4% in the general population . The age at onset has been reported to be between 15 years and 20 years, and penetrance to be complete at between 50 years and 70 years. It seems to be a progressive neurological disorder, and can lead to substantial disability in some patients. Although it presents some degree of clinical variability, it occurs in sporadic (SET) and familial (FET) forms with heterogeneity of expression between and within families . ET is characterized essentially by a postural and kinetic tremor most often affecting the arms, but it can also affect other parts of the body . Nonetheless, familial expression of ET has been linked to some loci [5, 6, 7].
In ET, Purkinje cell loss is the main neuropathological feature, with an increase in torpedoes in the cerebellum . Moreover, impairment in the ventral intermediate...
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The authors report no conflicts of interest.
- 10.Stefansson H, Steinberg S, Petursson H, Gustafsson O, Gudjonsdottir IH, Jonsdottir GA, et al. Variant in the sequence of the LINGO1 gene confers risk of essential tremor. Nat Genet 2009, 41(3): 277–279. Erratum in: Nat Genet 2009, 41: 504.Google Scholar