ABSTRACT
Mutations in the presenilin 2 gene (PS2) are an extremely rare cause of early-onset autosomal dominant Alzheimer's disease (AD), accounting for only 5% of these families. These cases represent a particular model of AD, and the scarcity of reports on their clinical phenotypes makes them of great interest. We report a family with early-onset autosomal dominant AD in four members, where the two living siblings were found to carry the novel PS2 mutation Gly212Val (exon 7, transmembrane domain IV) with highly predicted pathogenicity. Age at onset ranged from 60 to 65 years and three of the cases died between ages 74 and 76 years. Clinical phenotype was quite homogeneous among affected members of the family, and overall features, including cognitive decline, tau/p-tau and amyloid-ß cerebrospinal fluid markers, neuroimaging, and neuropathology were consistent with typical AD. Lewy bodies were present but restricted to the amygdala.
Subject(s)
Alzheimer Disease/genetics , Family Health , Mutation/genetics , Polymorphism, Single Nucleotide/genetics , Presenilin-2/genetics , Age of Onset , Aged , DNA Mutational Analysis , Female , Glycine/genetics , Humans , Male , Middle Aged , Neuropsychological Tests , Phenotype , Psychiatric Status Rating Scales , Valine/geneticsABSTRACT
La infección por el virus de la inmunodeficiencia humana (VIH) puede tener influencia a nivel periodontal. El deterioro del sistema inmune por una disminución de los linfocitos TCD4+ puede comprometer las defensas del huésped a nivel sistémico por lo que se puede aumentar la susceptibilidad a padecer diferentes patologías en la cavidad oral. En este trabajo de revisión se recoge el estado actual de la enfermedad periodontal en pacientes VIH+ y trata de abordar como el VIH puede influir en la microbiota subgingival aumentando el riesgo de padecer periodontitis. La presencia de otros factores coadyuvantes podría favorecer la aparición de patología o incluso agravarla independiente de la presencia del VIH (AU)
Human immunodeficiency virus (HIV) infection can be related with the periodontal status. The damage of the immunological system by decreasing TCD4+ lymphocytes may compromise host defenses therefore the susceptibility of suffering from several diseases in the oral cavity can also be increased. This review manuscript addresses the current aspects concerning to the periodontal disease in HIV infected patients and tries to explain how HIV may influence the subgingival microflora, increasing the risk of suffering periodontal problems. Others concomitant factors, not related with HIV infection, might help either the onset or increase the severity of the disease (AU)
