Further critical support for the tau hypothesis of neurodegeneration came from a series of discoveries showing that mutations in the gene encoding tau (MAPT) were pathogenic for a hereditary neurodegenerative syndrome called frontotemporal dementia with parkinsonism linked to chromosome 17 (FTDP-17). Subsequently, a variety of autosomal dominant mutations in the MAPT gene were found to lead to tau deposition and frontotemporal lobar degeneration (FTLD) related syndromes with cognitive, behavioral, and motor impairment, supporting the hypothesis that tau may be the proximal etiology leading to clinical symptoms. Polymorphisms in or around the MAPT gene have also been strongly linked to other proteinopathies including synucleinopathies, suggesting that tau may play an important role in other neurodegenerative proteinopathies. [11]
