When is it useful to genotype Parkinson's disease patients?

Published on May 31, 2023   20 min

A selection of talks on Genetics & Epigenetics

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0:00
I am Dr. Wszolek. I am consultant and professor of neurology at the Mayo Clinic in Jacksonville, Florida. My talk today is an usefulness of genotyping for patients suffering from Parkinson's disease.
0:19
Before we dissect the subject of my presentation, I will present the COI and funding disclosure slide. Throughout the years my research was sponsored through the governmental and private funding agencies as well as my institution, and private donors. However, in regards to this talk, I do not have any conflict of interest.
0:51
Before we talk about our main question for today's talk, a few slides of introduction. Parkinson's disease is a relatively common disorder. In United States, there are about 1 million people are suffering from Parkinson's disease. Clinically, Parkinson's disease is characterized by a certain combination of signs that include bradykinesia, slowness of movements, rest tremor, rigidity, muscle stiffness, and postural instability, falling. In specialized movement disorder clinics, about 70-80% of patients present with classic Parkinson's disease. These patients usually have a late onset of a disease 65 years or older. They have usually slow progression of the illness. The symptoms initially is asymmetrical with a dominant side predominantly affected first. If treated, they have a good response to levodopa. Now about 20-30% of cases seen in specialized clinics have atypical Parkinsonism. Under this umbrella, there are two groups of patients. One of that they have Parkinsonism due to known cause, for example, normal pressure hydrocephalus. Other diseases like multiple system atrophy, which is characterized by profound autonomic dysfunction or progressive supranuclear palsy that is characterized by falling and other symptoms. Now, these patients usually tend to have more aggressive disease, shorter survival, and in general, they do not respond so well to levodopa or other symptomatic treatments that we offer. Some of these diseases are genetic, for example, Perry syndrome, which is a very rare Parkinsonian disorder of genetic nature.

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When is it useful to genotype Parkinson's disease patients?

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