%0 Journal Article
%A Ortega-Cubero, Sara
%A Lorenzo-Betancor, Oswaldo
%A Lorenzo, Elena
%A Agúndez, José A G
%A Jiménez-Jiménez, Félix J
%A Ross, Owen A
%A Wurster, Isabel
%A Mielke, Carina
%A Lin, Juei-Jueng
%A Coria, Francisco
%A Clarimon, Jordi
%A Ezquerra, Mario
%A Brighina, Laura
%A Annesi, Grazia
%A Alonso-Navarro, Hortensia
%A García-Martin, Elena
%A Gironell, Alex
%A Marti, Maria J
%A Yueh, Kuo-Chu
%A Wszolek, Zbigniew K
%A Sharma, Manu
%A Berg, Daniela
%A Krüger, Rejko
%A Pastor, Maria A
%A Pastor, Pau
%T TREM2 R47H variant and risk of essential tremor: a cross-sectional international multicenter study.
%J Parkinsonism & related disorders
%V 21
%N 3
%@ 1353-8020
%C Amsterdam [u.a.]
%I Elsevier Science
%M DZNE-2020-04140
%P 306-309
%D 2015
%X 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.This was a cross-sectional multicenter international study. An initial case-control cohort from Spain (n = 456 ET, n = 2715 controls) was genotyped. In a replication phase, a case-control series (n = 897 ET, n = 1449 controls) from different populations (Italy, Germany, North-America and Taiwan) was studied. Owed to the rarity of the variant, published results on p.R47H allele frequency from 14777 healthy controls from European, North American or Chinese descent were additionally considered. The main outcome measure was p.R47H (rs75932628) allelic frequency.There was a significant association between TREM2 p.R47H variant and ET in the Spanish cohort (odds ratio [OR], 5.97; 95
%K Adolescent
%K Adult
%K Aged
%K Aged, 80 and over
%K Arginine: genetics
%K Cross-Sectional Studies
%K DNA Mutational Analysis
%K Essential Tremor: etiology
%K Essential Tremor: genetics
%K Female
%K Genetic Predisposition to Disease
%K Genotype
%K Germany
%K Histidine: genetics
%K Humans
%K International Cooperation
%K Italy
%K Male
%K Membrane Glycoproteins: genetics
%K Middle Aged
%K North America
%K Receptors, Immunologic: genetics
%K Risk Factors
%K Spain
%K Taiwan
%K Young Adult
%K Membrane Glycoproteins (NLM Chemicals)
%K Receptors, Immunologic (NLM Chemicals)
%K TREM2 protein, human (NLM Chemicals)
%K Histidine (NLM Chemicals)
%K Arginine (NLM Chemicals)
%F PUB:(DE-HGF)16
%9 Journal Article
%$ pmid:25585992
%2 pmc:PMC4408541
%R 10.1016/j.parkreldis.2014.12.010
%U https://pub.dzne.de/record/137818