Cellular pathways linked to dominant Parkinson’s disease

Published on July 1, 2014   24 min

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

Welcome to this Henry Stewart lecture on cellular pathways linked to dominant Parkinson's disease. My name is Patrick Lewis, and I am an associate professor in the School of Pharmacy at the University of Reading. I will be covering our current understanding of the biology underpinning monogenic autosomal dominant Mendelian forms of Parkinson's disease, discussing how research into this area is helping us understand Parkinson's and develop new therapies for this disorder.
Before I start, I want to briefly put the genetic forms of Parkinson's into the context of the disease as a whole, and in particular the clinical and pathological nature of this disorder. Parkinson's as a recognized disease entity has been around for well over 100 years, with its origins in this seminal monograph from James Parkinson back in 1817. The photo on the right is a patient seen by Jean-Martin Charcot in Paris in the 1870s and displays the stooped posture that is very typical of Parkinson's patients.
Our concept of Parkinson's has evolved over the past century. However, the key symptoms are well established. The age of onset is usually over the age of 60 with a disease duration of around 12 years. Resting tremor, bradykinesia or slowed movement, and akinesia, an inability to initiate movement, are the key movement phenotypes. It is now well recognized that a large proportion of Parkinson's patients go on to develop dementia in the later stages of the disease, indicating a clinical overlap with Dementia with Lewy Bodies, or DLB, and that here are a range of psychiatric symptoms associated with the disease as well.
Pathologically, Parkinson's disease is characterized by loss of dopaminergic neurons in the midbrain and in particular the substantia nigra pars compacta, the region displaying a dark coloring in the upper right panel here and absent due to cell death in the panel below.

Cellular pathways linked to dominant Parkinson’s disease

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