Tau gene mutations in FTDP-17 syndromes

Abstract

The identification of multiple autosomal-dominant tau gene mutations that give rise to a family of neurodegenerative disorders provides concrete evidence that abnormalities in tau are sufficient to induce the onset and progression of neurodegenerative disease. Although the majority of tauopathies are sporadic in nature, a greater understanding of the etiology and disease mechanisms involved in FTDP-17 syndromes will increase our current understanding of both the physiological and pathological functions of tau. Analogous to the identification of familial mutations involved in the pathogenesis of Alzheimer's disease, the discovery of such a large family of tau gene mutations which presents a wide range of phenotypes has lead to the development of more complex in vitro assays, better cell culture models and the development of multiple transgenic animal models. These biological models can be used to identify potential therapeutic targets and develop new mechanism based drugs aimed at stopping and/or prevented frontal temporal dementias and other tauopathies. © 2007 Springer Science+Business Media, LLC. All rights reserved.