Background: Visual rating scales are routinely used in clinical radiology to assess brain atrophy on scans of patients with suspected neurodegenerative conditions. Limbic predominant age-related TDP-43 encephalopathy (LATE) has recently been described, featuring early and severe atrophy of the amygdala. However, there is currently no scoring system specifically designed to assess amygdalar atrophy on MRI.
View Article and Find Full Text PDFObjectives: 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.
Our recently published K1N2-score robustly predicts KEAP1/NFE2L2-mutations and pathway activation status, while its accessibility might be limited. We tested if the RNA expression data of six pathway-related genes and NQO1-IHC might be a reliable alternative using 348 KEAP1/NFE2L2 mutation-enriched NSCLC. While TXNRD1 RNA testing was the best-performing single-gene test, the combination of single-gene screening and validation with the K1N2-score achieved the highest performance when predicting mutation status or pathway activation.
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