Neurologists Indu Subramanian and Michael Okun discuss the implications of the alpha-synuclein seed amplification assay for the diagnosis and management of Parkinson's disease.
, and it was led by an author named Andy Siderowf, who's a professor of neurology and leads the Parkinson's and movement disorders division at the University of Pennsylvania.
They took that spinal fluid, all of the information, including the genetic status of the folks that were in that study, and they performed a test called real-time quaking — some people call it a synuclein seeding assay — where they were able to see whether or not this abnormal protein in Parkinson's, synuclein, was in those spinal fluid samples, and then correlate it to the different disease within these 1000 really super–well-characterized folks.
In the old days, when it was used just for prion disease or Creutzfeldt-Jakob, it told you whether you had this really devastating condition. In Parkinson, the way that it's used is they can tell you if you have this abnormal protein configuration; that could be a marker that you have Parkinson's disease. It's kind of a cool and nice way that we see technology, methods, and science from one thing translated to another.
If you look across all the different papers, I just caution people to watch out because some of those assays are down to 50%. As we apply it, we have to remember that it matters how it's done. Hopefully, these will get better and better. We hope that they're going to go to skin and some other body fluids that are easier to get to than spinal fluid.Absolutely. I think that is one of the drawbacks. Trying to give a lumbar puncture is not a joke on our patients.
That tells us something about Parkinson's disease, something about these assays, and where we have to be careful. Some folks who are carrying that mutation may come up negative, so there's learning that is still yet to be done. By the way, the findings in this study have been shown by several previous studies, if you look back in the literature.
If you don't have Parkinson's, it could be a diagnostic test, but it isn't quite ready for primetime yet. I think we should be careful about using it until we've really brought it forward, we know all the data, and we want to make sure we don't miss some of the mutations and we understand what it means.
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