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Neuroscience Bulletin

, Volume 35, Issue 2, pp 362–364 | Cite as

The rs2228570 Variant of the Vitamin D Receptor Gene is Associated with Essential Tremor

  • Ali SazciEmail author
  • Nihal Uren
  • Halil Atilla Idrisoglu
  • Emel Ergul
Letter to the Editor

Dear Editor,

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 [2]. 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 [3]. 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 [4]. 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 [8]. Moreover, impairment in the ventral intermediate...

Notes

Compliance with Ethical Standards

Conflict of interest

The authors report no conflicts of interest.

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Copyright information

© Shanghai Institutes for Biological Sciences, CAS and Springer Nature Singapore Pte Ltd. 2018

Authors and Affiliations

  • Ali Sazci
    • 1
    Email author
  • Nihal Uren
    • 1
  • Halil Atilla Idrisoglu
    • 2
  • Emel Ergul
    • 1
  1. 1.Department of Medical Biology and Genetics, Faculty of MedicineUniversity of KocaeliKocaeliTurkey
  2. 2.Department of Neurology, Istanbul Faculty of MedicineUniversity of IstanbulIstanbulTurkey

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