Research Results

I’ve lost count of the exact number of observational and biomarker research studies that I have participated in since 2013. I think it is really important that participants receive individual results back as much as possible. Many of us are naturally curious, and offering individual information back to participants in studies is one way to increase engagement and express appreciation. However, results for even clinically available testing performed in a research setting are currently very rarely returned.

Recently, I had a clinically available test done called the Syn-One skin biopsy test. My neurologist (albeit reluctantly) ordered it at my request. Even though I received abnormal results, I’m very glad I had the test done now while I am in my forties. The test has not been around long enough or tested in young enough people to be predictive for someone without diagnostic symptoms. But if we don’t test people in early potential stages, we will never know.

Below are images of a few relevant individual results/information I have received from research studies or from clinical practice. I find all of this information very interesting and personally valuable.

I also include my father’s pathology results from his brain autopsy. Both my dad and I registered to become brain donors very early on when we first started participating in research, and his legacy lives on through his gift to science. Brain pathology is highly variable in people who carry LRRK2 variants and who died with Parkinson’s. This is a very intriguing mystery. Some people just show degeneration in the substantia nigra with no other evidence of pathology. Many LRRK2 brains show tau pathology (what is commonly seen in Alzheimer’s), and about half show classic alpha-synuclein pathology. My dad showed very severe alpha-synuclein pathology, as well as tau and beta-amyloid pathology. And, he had some limited TDP-43 (what is commonly seen in ALS) pathology confined to the amygdala region of his brain. There seems to be a lot of overlap in pathology among neurodegenerative diseases.

PET scans taken at the University of British Columbia in Vancouver, Canada in 2014 (I was 37 years old at the time):

Dopamine

Serotonin

Neuroinflammation

Acetylcholine

Below are results from a gastrointestinal study I completed in June 2016 and July 2016 for LRRK2 G2019S carriers at the Parkinson’s Institute in Sunnyvale, CA. Tests included the SmartPill (gut transit times), an esophageal manometry and anorectal manometry. I had abnormal results.

And this one is from June 2016, also abnormal

Ubiome study looking at gut microbiome; higher number of out of range organisms for IBS, IBD and Crohn’s seems to suggest to me that I may have evidence of gut inflammation