RESUMO
Mutations in the Presenilin 1 (PSEN1) gene are the most common cause of autosomal dominant familial Alzheimer's disease. We report the clinical, imaging and postmortem findings of kindred carrying a novel duplication mutation (Ile168dup) in the PSEN1 gene. We interpret the pathogenicity of this novel variant and discuss the additional neurological features (pyramidal dysfunction, myoclonus and seizures) that accompanied cognitive decline. This report broadens the clinical phenotype of PSEN1 insertion mutations while also highlighting the importance of considering duplication, insertion and deletion mutations in cases of young onset dementia.
Assuntos
Doença de Alzheimer/genética , Mutagênese Insercional/genética , Mioclonia/genética , Presenilina-1/genética , Convulsões/genética , Demência/genética , Feminino , Humanos , Mutação INDEL/genética , MasculinoRESUMO
Research addressing "environmental equity" and "environmental racism" claims that facilities for treatment, storage, and disposal of hazardous wastes (TSDFs) are located disproportionately in minority areas. In the first comprehensive study of TSDFs to use census tract-level data, we find no nationally consistent and statistically significant differences between the racial or ethnic composition of tracts which contain commercial TSDFs and those which do not. TSDFs are more likely to be found in tracts with Hispanic groups, primarily in regions with the greatest percentage of Hispanics. Different geographic units of analysis elaborate on, but are consistent with, these results.
