The genetics of progressive supranuclear palsy (PSP) and corticobasal degeneration (CBD)

Published on July 1, 2014   35 min

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Other Talks in the Series: The Genetic Basis of Neurological Disorders

My name is Rohan de Silva, and I'm from the UCL Institute of Neurology at University College London. And today, my lecture will focus on the genetics of two sporadic Parkinsonian disorders-- Progressive Supranuclear Palsy and Corticobasal Degeneration, also known by the acronyms PSP and CBD.
Although these disorders are very rare, they are primary tauopathies. That is, they are caused by tau protein dysfunction. And I will come back to this later. And they're therefore good models for the study of the central role of the tau protein in neurodegeneration. And although they are sporadic disorders without any inherited gene defects, it is clear from genetic association that common polymorphism in the tau gene is a significant risk factor for PSP and CBD. As a result, PSP in particular has been a good example for illustrating the possible functional basis of such genetic associations, and these go beyond the missense changes that affect the coding sequences of genes. More recently, additional genetic factors were identified in a genome-wide association study that implicates cellular processes other than tau. And I will describe these in the last part of this lecture.

The genetics of progressive supranuclear palsy (PSP) and corticobasal degeneration (CBD)

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