Publications by authors named "D Wint"
Article Synopsis
- The study investigates the role of the genetic variant rs1990622 as a potential modifier of disease risk in frontotemporal lobar degeneration (FTLD), particularly among those with pathogenic variants.
- Researchers enrolled participants from the ALLFTD study, analyzing the impact of rs1990622 on gray matter volume and cognitive function across various genetic groups related to FTD.
- Results indicate that carriers of the minor allele of rs1990622 show increased gray matter volume and better cognitive performance, especially in the thalamus and among presymptomatic individuals.
Background And Objectives: The clinical diagnosis of dementia with Lewy bodies (DLB) depends on identifying significant cognitive decline accompanied by core features of parkinsonism, visual hallucinations, cognitive fluctuations, and REM sleep behavior disorder (RBD). Hyposmia is one of the several supportive features. α-Synuclein seeding amplification assays (αSyn-SAAs) may enhance diagnostic accuracy by detecting pathologic αSyn seeds in CSF.
View Article and Find Full Text PDFArticle Synopsis
- The study investigates the effect of a specific genetic modifier on gray matter volume and cognitive function in patients with Frontotemporal Lobar Degeneration (FTLD), including both mutation carriers and sporadic cases.
- Participants were recruited from the ALLFTD study and were genotyped for the rs1990622 SNP to assess the relationship between this genetic variant and cognitive outcomes across different genetic groups.
- Findings indicate that the minor allele of rs1990622 is associated with increased gray matter volume and better cognitive scores in mutation carriers, especially affecting the thalamus, suggesting it may play a role in modifying the risk and impact of FTLD.
Background: Informant-based measures are effective screening tools for cognitive impairment. The Alzheimer's Questionnaire (AQ) is a subjective, informant-based measure that detects amnestic mild cognitive impairment (aMCI) and Alzheimer's disease (AD) with high sensitivity and specificity and has been shown to predict amyloid burden.
Objective: To determine whether informant-based report of cognitive decline correlates with hippocampal volume changes in MCI and AD.