tau Genetics in Frontotemporal Lobe Dementia, Progressive Supranuclear Palsy, and Corticobasal Degeneration

摘要: Publisher Summary The presence of neuronal and glial, fibrillary, intracellular inclusions that contain aberrant precipitates the microtubule-associated protein tau (MAPT) led to hypothesis mutations in gene are responsible for neuropathology frontotemporal lobe dementia (FTD), progressive supranuclear palsy (PSP), cortico basal degeneration (CBD). can impair MAPT function, modify alternative splicing exons, promote aggregation MAPT. This notable discovery firmly established role as an etiopathogenetic factor FTDP-17 continues facilitate genetic research other disorders with pathology. chapter examines genetics context three namely, corticobasal structural anatomy its relationship fundamental processes (transcription, translation, post-translational modification) is reviewed molecular characteristics FTD, PSP, CBD interpreted. knowledge serves basis understanding genotype–phenotype correlations variability occur these disorders.