Publications by authors named "Oscar Ramos-Campoy"
Article Synopsis
- Epigenetics may play a significant role in neurodegenerative diseases, but there is a lack of research on early-onset dementia and the use of Lymphoblastoid cell lines (LCLs).
- A study analyzed DNA methylation in samples from Alzheimer's disease and frontotemporal dementia patients, revealing frequent hypermethylation and altered biological pathways related to neuron development and immune responses.
- The findings suggest that LCLs could serve as a useful model for studying neurodegeneration in its early stages, with a noted difference in gene expression correlation between brain tissues and LCLs.
We analyzed Lewy body (LB) pathology in 18 autosomal dominant Alzheimer's disease (ADAD) brains via immunohistochemistry. Real-time quaking induced conversion was used to detect misfolded α-synuclein (α-syn) in 18 living ADAD cerebrospinal fluid (CSF) samples. Concomitant LB pathology was present in 44% ADAD brains.
View Article and Find Full Text PDFArticle Synopsis
- - Blood-based biomarkers, tested in a prospective real-world memory clinic cohort, show promise for evaluating cognitive impairment, with five specific plasma biomarkers being analyzed for diagnostic performance and applicability in clinical settings.
- - Among the 349 participants, plasma p-tau181 and GFAP were highly effective in distinguishing Alzheimer's disease from non-neurodegenerative conditions, achieving diagnostic accuracies of 94% and 92%, respectively.
- - The study found that p-tau181 not only predicted amyloid status with 85% accuracy but also worked well with NfL to identify frontotemporal dementia, highlighting the potential of these biomarkers in everyday clinical practice.
Article Synopsis
- Early- and late-onset Alzheimer's disease (EOAD and LOAD) share similar brain pathology but differ in cognitive profiles, with EOAD showing greater deficits in visual, motor, and executive functions.
- In a study of 195 individuals, the research found that EOAD patients experience a faster cognitive decline compared to those with LOAD, particularly in non-memory tasks, influenced by factors like education and APOE ε4 status.
- The findings suggest that age of onset significantly impacts cognitive deterioration, with younger patients facing a steeper decline in non-memory areas, while education level and genetic factors also play crucial roles in cognitive performance.
Article Synopsis
- The study investigates sex differences in early-onset Alzheimer's disease (EOAD), focusing on cognitive impairment and atrophy in the brain between male and female patients.
- Female EOAD patients exhibited more severe cognitive deficits and greater brain atrophy compared to their male counterparts, alongside higher levels of tau protein in their cerebrospinal fluid.
- The findings indicate that sex may play a significant role in how Alzheimer's disease progresses and affects individuals, with distinct patterns of impairment observed at the time of diagnosis.
Sporadic early-onset Alzheimer's disease (EOAD) and autosomal dominant Alzheimer's disease (ADAD) provide the opportunity to investigate the physiopathological mechanisms in the absence of aging, present in late-onset forms. Frontotemporal dementia (FTD) causes early-onset dementia associated to tau or TDP43 protein deposits. A 15% of FTD cases are caused by mutations in C9orf72, GRN, or MAPT genes.
View Article and Find Full Text PDFArticle Synopsis
- - The study investigates how MRI measures of brain atrophy relate to cognitive outcomes in early-onset Alzheimer’s disease (EOAD) patients, focusing on those under 65 with confirmed diagnoses using biomarkers.
- - Researchers assessed 48 EOAD patients and 42 healthy controls using neuropsychological evaluations, MRI scans, and lumbar punctures, then tracked cognitive changes over two years.
- - Key findings reveal that baseline cortical thickness and ventricular volume in EOAD patients were significant predictors of cognitive abilities like global cognition, language, and executive functioning, while hippocampal volume showed no significant impact.
Article Synopsis
- In a study involving early-onset Alzheimer's disease (EOAD) patients, researchers investigated brain atrophy patterns and fluid biomarkers using MRI technology and biomarker analysis.
- The study compared 12 EOAD patients with 19 control participants and found that atrophy progressed from the back to the front of the brain, affecting areas beyond the hippocampus and amygdala.
- Higher levels of CSF markers such as NfL and Aβ42 correlated with greater brain atrophy, indicating that these biomarkers could help predict disease progression in EOAD patients.
Article Synopsis
- Early-onset Alzheimer's disease (EOAD) and frontotemporal dementia (FTD) have many genetically influenced cases, making genetic testing crucial for diagnosis.
- Using whole-exome sequencing, researchers identified new potentially harmful mutations in genes related to EOAD (PSEN1) and FTD (MAPT and VCP) among a group of Spanish patients.
- The study found that 2% of patients with early-onset dementia, who did not meet current genetic testing guidelines, had likely pathogenic mutations, highlighting the importance of advanced genetic analysis in neurodegenerative disease diagnosis.
Article Synopsis
- The study addresses the difficulties in diagnosing early-onset dementia and explores MRI as a potential tool for assessment.
- The research involved evaluating visual atrophy scales on MRI in 200 subjects diagnosed with various types of early-onset dementia, comparing their effectiveness in distinguishing between conditions.
- Findings indicated that while certain scales performed well in differentiating Alzheimer's disease from healthy controls, none of the scales effectively distinguished Alzheimer's from frontotemporal dementia or other non-degenerative disorders, prompting caution in their clinical use.
Article Synopsis
- A study examined how early-onset Alzheimer's disease (EOAD) and frontotemporal lobar degeneration (FTLD) affect brain structure and associated cerebrospinal fluid (CSF) biomarkers in a group of 138 participants, which included subjects with EOAD, FTLD, and controls.
- Using advanced imaging techniques, researchers identified distinct "AD" and "FTLD" signatures reflected in cortical thickness and fraction anisotropy, which aligned with prior research on these diseases.
- The analysis revealed that specific CSF biomarkers like Aβ and 14-3-3 correlated with changes in brain structure for AD, while NfL and 14-3-3 were more relevant for FTLD, highlighting the differing roles
Article Synopsis
- - Synaptic damage, axonal neurodegeneration, and neuroinflammation are key features observed in Alzheimer's disease (AD), frontotemporal dementia (FTD), and Creutzfeldt-Jakob disease (CJD).
- - A study of 353 participants found significant differences in cerebrospinal fluid biomarkers between healthy controls and those with AD, FTD, and CJD, particularly noting that neurofilament light (NF-L) distinguished stages within the AD continuum.
- - The research highlights that biomarkers effectively differentiate between various neurodegenerative diseases and confirmed that NF-L and 14-3-3 proteins are as reliable as total tau in diagnosing neurodegeneration using the AT(N) system.
The neuropathological hallmark of the C9orf72 intronic hexanucleotide expansion in frontotemporal lobar degeneration (FTLD) and amyotrophic lateral sclerosis (ALS) is the presence of small ubiquitin/p62-positive and transactive response DNA binding protein 43 kDa (TDP-43)-negative cytoplasmic inclusions in several brain areas. The identification of this histopathological signature is highly predictive of an underlying mutation. In this study, we screened 1800 cases of the Barcelona IDIBAPS Brain Bank, independently of the clinical and final neuropathological diagnosis of the brain donor, for the presence of ubiquitin/p62-positive inclusions in the cerebellum (UPPI).
View Article and Find Full Text PDF