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Neurodegenerative disease: expression levels of normal sequence pathogenic proteins contribute to risk of disease

Published on October 1, 2007 Updated on March 8, 2021   21 min

A selection of talks on Genetics & Epigenetics

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0:00
In this talk, I'm going to talk about Alzheimer's disease, prion disease, diseases with tau pathology, and Parkinson's disease. The point I'm going to make is that in all of these cases, we, being the general research community, have used a very rare or several dominant forms of the disease to elucidate pathogenesis, to elucidate the etiology of a few cases of disease and then to start to elucidate pathogenesis. But these in general, these cases of autosomal dominant disease are very rare. We always wonder about what's causing the more common sporadic forms of the disease. What I'm going to talk about in this talk is the relationship between the common sporadic forms of the disease and the autosomal dominant forms in terms of etiology and pathogenesis.
0:54
Now, these are the disease I'm going to talk about, Alzheimer's disease characterized by A Beta plaques and tangles and often by Lewy bodies where the Alzheimer talk I've done in this series and plenty of other locations, we know that the initiating molecule is the A Beta molecule. Also we're going to talk about Prion disease where autosomal dominant Prion disease is caused by prion mutations. I'm going to talk about FTDP 17, the tangle diseases, and I'll talk about the sporadic tangle diseases. Peer progressive supranuclear palsy and corticobasal degeneration, and I'll talk about Parkinson's disease and Lewy body dementia, the disease is characterized by synuclein pathology and Lewy bodies. Just a couple of notes while we have this slide up, I regard PSP by definition FTDP 17 is a hereditary disease and PSP and corticobasal degeneration are almost always sporadic diseases. They overlap in clinical features with FTDP 17 and I in a way regard them as the sporadic variant of these diseases. I regard them as being the sporadic tangle diseases. The other note to make is that Parkinson's disease and Lewy body dementia, I regard as the same each eulogy entity. Obviously, they're treated differently because the Lewy bodies are in different positions. But we have many families now where there are both diseases in the kindred, illustrating that from a pathogenesis point of view they're probably related. Most of what I'm going to say is covered in

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Neurodegenerative disease: expression levels of normal sequence pathogenic proteins contribute to risk of disease

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