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Resumen Fundamento y objetivo REACH es el mayor registro mundial disenado para obtener informacion sobre el control de factores de riesgo vascular y tratamiento preventivo en una poblacion con aterotrombosis sintomatica o de riesgo alto para desarrollarla. El objetivo del presente estudio es conocer la tasa de episodios cardiovasculares en la muestra de la poblacion espanola incluida en el registro, tras un ano de seguimiento e intervencion. Material y metodo El registro REACH Espana es un estudio de cohorte prospectivo de sujetos con solo factores de riesgo vascular (SFR) para aterotrombosis o con enfermedad vascular (EV) sintomatica: enfermedad coronaria (EC) y/o cerebrovascular (ECV) y/o arterial periferica (EAP). Las variables principales del estudio fueron la tasa de mortalidad global, cardiovascular y la del conjunto de mortalidad cardiovascular mas infarto de miocardio (IM), mas accidente cerebrovascular, mas hospitalizacion cardiovascular al ano de seguimiento. Resultados Espana incluyo a 2.516 sujetos, de los cuales 2.252 completaron el ano de seguimiento, con una edad media de 68,1 anos (73,8% de varones). El 11,6% presentaban SFR y el 88,5% EV establecida, el 55% EC, el 33% ECV y el 17% EAP. La tasa anual en los grupos EV y SFR fue, respectivamente, para la mortalidad global del 3,57 y el 1,98% (p=NS), para la mortalidad cardiovascular del 2,69% y el 0,62% (p Conclusiones Los datos del registro REACH espanol al ano de seguimiento en sujetos con aterotrombosis establecida o con factores de riesgo para desarrollarla muestran una alta tasa de mortalidad total y de la combinacion de episodios cardiovasculares mayores, que se acentua cuando mayor es el numero de territorios vasculares afectados.

Background: A recent genome-wide association study (GWAS) has identified a putative association, not statistically confirmed, of cervical dystonia within several regions in a British population. Hence, the authors proposed dysfunction of the ion channel NALCN (for sodium leak channel, nonselective) as a plausible cause of cervical dystonia. The objective of our study was to investigate the association of five single nucleotide polymorphisms (SNPs) previously reported with high signals as putative genetic risk factors for cervical dystonia in a British GWAS, including two located in the NALCN gene region. Methods: We performed a case-control association study in a Spanish population. The SNPs selected for genotyping were two SNPS in the NALCN gene (rs61973742 and rs1338041), one SNP in the OR4X2 gene (rs67863238), one SNP in the COL4A1 region (rs619152), and one intergenic SNP (rs1249277). Genomic DNA was collected from 252 patients with cervical dystonia, with a mean age of 55.3614.1 years (mean age at onset, 43.5615.7 years), and 342 unrelated control subjects with a mean age of 56.3614.3 years. Genotyping of SNPs was performed using Taq-Man assays and SimpleProbe assays. Results: The SNP rs619152 had to be excluded because of assay failure. No significant differences were found in allele distribution between cases and controls for all analyzed SNPs. Therefore, we found no association with cervical dystonia for the analyzed SNPs in our Spanish population. Conclusions: We did not find any evidence supporting the association of NALCN with cervical dystonia, indicating that this gene is not implicated in the pathogenesis of this disorder in our cervical dystonia population. (C) 2014 International Parkinson and Movement Disorder Society