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Boston University School of Medicine
With the advent of molecular markers identifying mutations in tau associated with disease, it is now possible to identify individuals at risk for disease before onset of overt clinical symptoms. This presents an exciting opportunity to investigate how the mutations affect cognition. This is particularly important because tau mutations appear to have pleiotropic effects that impact both on microtubule function and on neurodegeneration. The observation of early cognitive dysfunction associated with the mutations but preceding degeneration provides insight into how mutations in tau might affect neuronal function.
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