ABSTRACT
BACKGROUND AND AIM: The revised Boston criteria v2.0 for cerebral amyloid angiopathy (CAA) add two radiological markers to the existing criteria: severe visible perivascular spaces in the centrum semiovale and white matter hyperintensities (WMHs) in a multispot pattern. This study aims to determine the sensitivity of the updated criteria in mutation carriers with Dutch-type hereditary CAA (D-CAA) in an early and later disease stage. METHODS: In this cross-sectional study, we included presymptomatic and symptomatic D-CAA mutation carriers from our prospective natural history study (AURORA) at the Leiden University Medical Center between 2018 and 2021. 3-Tesla scans were assessed for CAA-related magnetic resonance imaging (MRI) markers. We compared the sensitivity of the Boston criteria v2.0 to the previously used modified Boston criteria v1.5. RESULTS: We included 64 D-CAA mutation carriers (mean age 49 years, 55% women, 55% presymptomatic). At least one white matter (WM) feature was seen in 55/64 mutation carriers (86%: 74% presymptomatic, 100% symptomatic). Fifteen (23%) mutation carriers, all presymptomatic, showed only WM features and no hemorrhagic markers. The sensitivity for probable CAA was similar between the new and the previous criteria: 11/35 (31%) in presymptomatic mutation carriers and 29/29 (100%) in symptomatic mutation carriers. The sensitivity for possible CAA in presymptomatic mutation carriers increased from 0/35 (0%) to 15/35 (43%) with the new criteria. CONCLUSION: The Boston criteria v2.0 increase the sensitivity for detecting possible CAA in presymptomatic D-CAA mutation carriers and, therefore, improve the detection of the early phase of CAA.
ABSTRACT
A selection experiment for sternopleural bristle number in Drosophila melanogaster was undertaken to analyze the correlated effects on recombination. Replicate lines were subjected to divergent directional selection and to stabilizing selection. Recombination rates for markers on chromosomes 2 (dp-cn-bw) and 3 (se-ss-ro) were compared to those from a control. All lines responded as predicted for bristle number. Lines selected for both increased and decreased bristle number exhibited significantly increased recombination rates. The predicted recombination response from stabilizing selection is suggested by our data, but only one comparison is statistically significant. These results, taken with other studies, support the proposal that genetic recombination enhances individual fitness when populations are experiencing environmental change. Less conclusively, our results suggest that populations undergoing stabilizing selection may respond by reducing their rates of crossing over.
