An ANXA11 P93S variant dysregulates TDP-43 and causes corticobasal syndrome.
Christopher GrunseichVeronica H RyanJames HawrotSydney LawtonDaniel M RamosY Andy QiKory R JohnsonXylena ReedNicholas L JohnsonAaron W KollaschMegan F DuffyLawren VandeVredeJ Nicholas CochranBruce L MillerCamilo ToroBibiana BielekovaDebora S MarksJennifer S YokoyamaJustin Y KwanMark R CooksonMichael Emmerson WardPublished in: Alzheimer's & dementia : the journal of the Alzheimer's Association (2024)
ANXA11 P93S is a pathogenic variant. Corticobasal syndrome is part of the ANXA11 phenotypic spectrum. Hybridization chain reaction fluorescence in situ hybridization (HCR FISH) is a new tool for the detection of cryptic exons due to TDP-43-related loss of splicing regulation. Microglial ANXA11 and related immune pathways are important drivers of disease. Cellular models are powerful tools for adjudicating variants of uncertain significance.