The psychopathological structure and prognostic significance of mild cognitive impairment syndrome (MCI) were studied in a two-year prospective study of randomized cohorts of elderly subjects whose mental state corresponded to the criteria for MCI. A total of 40 patients aged from 50 to 80 years were studied. Patients underwent clinical history-taking, neuropsychological, psychometric, and genetic investigations (genotyping for ApoE), as well as brain imaging studies. The psychopathological structure and psychometric characteristics of MCI syndrome are presented. Clinical and genetic factors with prognostic significance are identified.
We report a family case of type II early-onset Alzheimer’s disease (AD) inherited over three generations. None of the patients in the family had mutations in the genes believed to be the major risk factors for AD, such as APP, presenilin 1 or 2. Targeted exome sequencing of 249 genes that were previously reported to be associated with AD revealed a rare mutation in hemochromatosis (HFE) gene known to be associated with hemochromotosis. Compared to previous studies, we show that HFE mutation can possess the risk of AD in transferrin-, APOE- and APP-normal patients.
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