66 research outputs found
Alzheimer's disease risk variants modulate endophenotypes in mild cognitive impairment
No full textIntroduction We evaluated the effect of Alzheimer's disease (AD) susceptibility loci on endophenotypes closely related with AD pathology in patients with mild cognitive impairment (MCI). Methods We selected 1730 MCI patients from four independent data sets. Weighted polygenic risk scores (PGS) were constructed of 18 non‐apolipoprotein E (APOE) AD risk variants. In addition, we determined APOE genotype. AD endophenotypes were cognitive decline over time and cerebrospinal fluid (CSF) biomarkers (aβ, tau, ptau). Results PGS was modestly associated with cognitive decline over time, as measured by mini‐mental state examination (MMSE) (β ± SE:−0.24 ± 0.10; P = .012), and with CSF levels of tau and ptau (tau: 1.38 ± 0.36, P = 1.21 × 10−4; ptau: 1.40 ± 0.36, P = 1.02 × 10−4). Discussion In MCI, we observed a joint effect of AD susceptibility loci on nonamyloid endophenotypes, suggesting a link of these genetic loci with neuronal degeneration in general rather than with Alzheimer‐related amyloid deposition
Author Correction : Usefulness of peripapillary nerve fiber layer thickness assessed by optical coherence tomography as a biomarker for Alzheimer's disease
No full textCorrection to: Scientific Reports https://doi.org/10.1038/s41598-018-34577-3, published online 05 November 2018. The original HTML and PDF version of this Article contained a typographical error in the spelling of the author Pablo Villoslada, which was incorrectly given as Pablo Villaoslada. This has now been corrected in the HTML and PDF versions of the Article
Association of TMEM106B rs1990622 Marker and Frontotemporal Dementia: Evidence for a Recessive Effect and Meta-Analysis
No full textP4‐248: Molecular evaluation of the ubiquitin 2 gene PXX domain in familial frontotemporal dementia patients
No full textA Longitudinal Follow-Up of 550 Mild Cognitive Impairment Patients: Evidence for Large Conversion to Dementia Rates and Detection of Major Risk Factors Involved
No full textHuman vs. AI Authorship: Does it Matter in Evaluating Creative Writing? A Pilot Study Using ChatGPT
No full textThe current study analyzed whether people rated creative writing texts differently if they believed an Artificial Intelligence (AI) (ChatGPT) or a person was the author. A pilot experiment was designed. AI-generated texts were presented to a control and an experimental group. The stimuli included three poems and a short story. In all cases, the texts were created by ChatGPT; however, participants in the control group were told the texts were written by a person, while the experimental group was told the text was generated by ChatGPT. No statistically significant differences were found when comparing the control and experimental groups' scores regarding perceived creativity and originality of the texts, nor in how much enjoyment it caused and how likely participants were to recommend the texts to someone else. Therefore, preliminary evidence from this pilot study suggests that readers do not evaluate different, in terms of creative writing, a text attributed to a human authorship than one believed to have been written by an AI
Biomarker-Based Risk Prediction of Alzheimer’s Disease Dementia in Mild Cognitive Impairment: Psychosocial, Ethical, and Legal Aspects
No full textA Two-Year Follow-Up of Cognitive Deficits and Brain Perfusion in Mild Cognitive Impairment and Mild Alzheimer's Disease
No full textTable_8_Exploring Genetic Associations of Alzheimer’s Disease Loci With Mild Cognitive Impairment Neurocognitive Endophenotypes.xls
No full textThe role of genetic risk markers for Alzheimer’s disease (AD) in mediating the neurocognitive endophenotypes (NEs) of subjects with mild cognitive impairment (MCI) has rarely been studied. The aim of the present study was to investigate the relationship between well-known AD-associated single-nucleotide polymorphisms (SNPs) and individual NEs routinely evaluated during diagnosis of MCI, AD, and other dementias. The Fundació ACE (ACE) dataset, comprising information from 1245 patients with MCI, was analyzed, including the total sample, amnestic MCI (aMCI) (n = 811), and non-amnestic MCI (naMCI) (n = 434). As probable-MCI (Pr-MCI) patients with memory impairment have a higher risk of AD, which could influence the statistical power to detect genetic associations, the MCI phenotype was also stratified into four related conditions: Pr-aMCI (n = 262), Pr-naMCI (n = 76), possible (Pss)-aMCI (n = 549), and Pss-naMCI (n = 358). Validation analyses were performed using data from the German study on Aging, Cognition, and Dementia in primary care patients (AgeCoDe), and the German Dementia Competence Network (DCN). SNP associations with NEs were calculated in PLINK using multivariate linear regression analysis adjusted for age, gender, and education. In the total MCI sample, APOE-ε4 was significantly associated with the memory function NEs “delayed recall (DR)” (β = -0.76, p = 4.1 × 10-10), “learning” (β = -1.35, p = 2.91 × 10-6), and “recognition memory” (β = -0.58, p = 9.67 × 10-5); and with “DR” in the aMCI group (β = -0.36, p = 2.96 × 10-5). These results were confirmed by validation in the AgeCoDe (n = 503) and DCN (n = 583) datasets. APOE-ε4 was also significantly associated with the NE “learning” in individuals classified as having Pss-aMCI (β = -1.37, p = 5.82 × 10-5). Moreover, there was a near study-wide significant association between the HS3ST1 locus (rs6448799) and the “backward digits” working memory NE (β = 0.52, p = 7.57 × 10-5) among individuals with Pr-aMCI, while the AP2A2 locus (rs10751667) was significantly associated with the language NE “repetition” (β = -0.19, p = 5.34 × 10-6). Overall, our findings support specific associations of established AD-associated SNPs with MCI NEs.</p
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