Longitudinal clinical, neuropsychological, and neuroimaging characterization of a kindred with a 12-octapeptide repeat insertion in PRNP: the next generation.
Ryan A TownleyAngelina J PolsinelliJulie A FieldsMary M MachuldaDavid T JonesJonathan Graff-RadfordKejal M KantarciVal J LoweRosa V RademakersMatt C BakerNeeraj KumarBradley F BoevePublished in: Neurocase (2020)
Gene silencing treatments are on the horizon and when they become available, early detection will be crucial. Longitudinal studies involving familial mutation kindreds can offer important insights into the initial neuropsychological and neuroimaging changes necessary for early detection.