TAU MUTATIONS   

 Author: Luc Buée, Inserm 422

In this figure is reported the location of mutations on exons (E9 to E12), on repeats (R) or inter-repeat (IR), provoking an increase of isoforms with exon 10 (+), or a loss of function (-), with a significant decrease of tau binding to tubulin dimers.

Clinical and neuropathological phenotypes are very different according to the mutations, as well as the biochemical signatures. Furthermore, for a given mutation, there is an important heterogenity of the clinical phenotype, inside the same family.

Explanation for tau biochemical signatures, from type I to type IV, click here

From Patrice Delobel thesis