TREM2 R47H variant and risk of essential tremor: a cross-sectional international multicenter study.

ABSTRACT:

Introduction

Essential tremor (ET) is the most frequent movement disorder in adults. Its pathophysiology is not clearly understood, however there is growing evidence showing common etiologic factors with other neurodegenerative disorders such as Alzheimer's and Parkinson's diseases (AD, PD). Recently, a rare p.R47H substitution (rs75932628) in the TREM2 protein (triggering receptor expressed on myeloid cells 2; OMIM: *605086) has been proposed as a risk factor for AD, PD and amyotrophic lateral sclerosis (ALS). The objective of the study was to determine whether TREM2 p.R47H allele is also a risk factor for developing ET.

Methods

This was a cross-sectional multicenter international study. An initial case-control cohort from Spain (n = 456 ET, n = 2715 controls) was genotyped

SUBMITTER: Ortega-Cubero S 

PROVIDER: S-EPMC4408541 | biostudies-literature | 2015 Mar

REPOSITORIES: biostudies-literature