Publications by authors named "R Colao"
Objectives: We investigated tau and neurodegeneration patterns and clinical phenotypes in carriers of a specific pathogenic variant in the PSEN1 gene and 1 nonaffected relative.
Methods: We included 3 symptomatic carriers of the c.436 A>C, p.
Article Synopsis
- * A study analyzed 4,685 sporadic FTD cases and found significant genetic variants at the MAPT and APOE loci that increase the risk for the disease, indicating potential genetic overlap with other neurodegenerative diseases.
- * The genetic risk factors appear to vary by population, with MAPT and APOE associations predominantly found in Central/Nordic and Mediterranean Europeans, suggesting a need for further research into these population-specific features for better understanding of sporadic FTD.
Article Synopsis
- Alzheimer's disease (AD) is the most common type of dementia in the elderly, with two main forms: sporadic (causes unclear) and familial (inherited through specific gene mutations).
- Key features of AD include the buildup of amyloid-beta peptides outside cells and hyperphosphorylated tau proteins inside cells.
- Recent research suggests a potential link between various viral infections (like herpes and HIV) and an increased risk of developing sporadic AD, prompting further studies into these connections.
Neuropsychiatric or behavioral and psychological symptoms of dementia (BPSD) represent a heterogeneous group of non-cognitive symptoms that are virtually present in all patients during the course of their disease. The aim of this study is to examine the prevalence and natural history of BPSD in a large cohort of patients with behavioral variant of frontotemporal dementia (bvFTD) and Alzheimer's disease (AD) in three stages: (i) pre-T0 (before the onset of the disease); (ii) T0 or manifested disease (from the onset to 5 years); (iii) T1 or advanced (from 5 years onwards). Six hundred seventy-four clinical records of patients with bvFTD and 1925 with AD, from 2006 to 2018, were studied.
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