Jim Browne
Forum Replies Created
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Yes, I have a single L444P GBA mutation that gave me a 17% of getting Parkinson’s. Carriers in family have been traced back 200 years. I was part of the Sanofi clinical trial that was billed as the first trial to use genetics to target a real cure of PD. The trial recently ended in failure with the study drug shown to be ineffective. We have a ways to go with this approach. It is interesting that 83% of the people with this mutation don’t get PD.
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I had an olfactory hallucination where everything smelled like wasabi Japanese mustard. After a couple of weeks it just disappeared.
JimB
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Unlike most cases of Parkinson’s, the probable root cause of my PD has been established by numerous scientific studies. I have a GBA mutation with the variation, L444P. This increased my odds of getting PD by 10 to 20 times. In my family there enough present day relatives with PD that I can trace the mutation back 200 years by triangulation.
Even with these genetic odds the majority of people with this mutation don’t get PD. It appears that there has to be an environmental trigger to set the disease off. As a young man in my 20’s I was exposed very heavily to chlorinated organics, in particular trichloroethylene. At the time TCE was the new “safe” solvent to replace chloroform and hexachlorobenzene and little was done to avoid exposure. Limited scientific studies have indicated that heavy exposure to TCE increases the odds of getting PD by 6 to 10 times. My advice to anyone with multiple relatives with PD to avoid all exposures to any industrial or agricultural chemicals. This includes household garden chemicals.
Although there is no data I know of, I don’t buy that maraton running causes PD. Before PD wrecked my ability to run I had been a marathon runner for 37 years. The mutation I have normally results in early onset PD. My onset was 10 years past this. I think it is possible the delay was from years of hard exercise. In any case while exercise hasn’t been proved to slow or stop PD, it has been proved to improve the quality of life. Heavy exercise has greatly improved my motor symptoms.
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I have a GBA mutation, l444p, that increases my risk of getting PD by 10 times and was heavily exposed to trichloroethylene, a solvent linked in a few studies to increased PD risk.
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I have a GBA mutation L444P. Evidence not discussed in the paper indicates it is one of the most common GBA mutations world wide, if not the most common. 23andme currently doesn’t test for it. I got this result from Genos that was verified by the MJF PPMI initative. It took 2 tries by Indiana U to test for the right variant. I have joined one of several clinical trials targeting GBA mutations and was tested again. It appears no one trusts any test but their own.