Progressive cognitive impairment and familial spastic paraparesis due to PRESENILIN 1 mutation: anatomoclinical characterization.

Introduction: Autosomal dominant Alzheimer's disease (ADAD) due to presenilin 1 (PSEN1) mutation can induce atypical neurological symptoms such as movement disorders and epileptic seizures in the context of early-onset progressive cognitive impairment.

Methods: This study includes the anatomoclinical description of three patients of two generations of the same family with movement disorders and progressive cognitive impairment. All were evaluated by trained neurologists, underwent protocolized neuropsychological evaluation, and were assessed by structural (magnetic resonance) and functional (SPECT, PET-18FDG, or PET-18F-Florbetapir) brain imaging tests.

Correction to: Genetic and clinical characterization of BRCA-associated hereditary breast and ovarian cancer in Navarra (Spain).

Following publication of the original article [1], the authors reported an error in Figure 2, where the color code of the text boxes is reversed. Figure 2-amended shows the correct color association between the text boxes and the different areas in the map: Navarra, neighbouring communities and other Spanish communities.

Genetic and clinical characterization of BRCA-associated hereditary breast and ovarian cancer in Navarra (Spain).

Background: Genetic testing for BRCA1/2 genes is widely used as a strategy to reduce incidence and morbidity of hereditary breast and ovarian cancer (HBOC). The purpose of this study is to analyse the demographic and molecular characteristics of BRCA germline mutations in Navarra, Spain, and to investigate the clinical profile of hereditary and sporadic breast cancer (BC) and ovarian cancer (OC) in the Community.

Methods: The study includes 1246 individuals assessed for BRCA1/2 genetic testing in Navarra, during 2000-2016, and a cohort of BC (n = 4384) and OC (n = 561) from the population-based Navarra Cancer Registry.

[ACT/AA polymorphism could duplicate the APOE*epsilon4-associated Alzheimer's disease risk].

Background And Objective: The association between the presence of the allele APOE*epsilon4 (apolipoprotein E) and sporadic Alzheimer disease (AD) has been long established. However, the possible influence of other genetic factors is still under debate. This study investigated the role of the a 1-antichymotrypsin (ACT) gene as a susceptibility factor for developing late-onset AD in the population of Navarra.