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02-26-2014, 09:33 PM | #1 | ||
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Quote:
The commonly measured SNP for the SNCA mutation is rs356219 . The risk allele is G. The SNCA gene is part of the PARK family of genes associated with PD. At least 18 different mutations in SNCA have been found. The SNCA mutation has be positively linked to early-onset PD (YOPD). By the way, the new PPMI genetic study is also recruiting people (both with and without PD) who have tested positively for the SNCA mutation. As it is rarer than LRRK2, they are only looking for 50 subjects. Gary |
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"Thanks for this!" says: | anagirl (02-26-2014) |
02-26-2014, 10:29 PM | #2 | ||
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Thank you again, Gary. I just looked up the rs356219 and I'm a GG. (((sigh))) I was diagnosed at 38, am now almost 44, although I can trace symptoms back to when I was 29. YOPD for sure.
I'm going to see about getting into the PPMI study. I also saw that one of the criteria is being Basque - I'm half Spanish, Basque. I can't tell you how helpful this is. I've spent the better part of the last 5 years trying to figure out why I have PD, tonight I feel like I'm finally starting to solve a portion of the mystery. Quote:
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02-27-2014, 12:52 PM | #3 | ||
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I went to the Cleveland Clinic last Monday with a view to enrolling in this study. They took a blood sample and sent it to New Haven for analysis and I am waiting to find out if I have a mutated LRRK2 gene.
What they explained to me is that I am of interest because I have PD, have a first degree relative with PD and am the descendant of Eastern European Jews. If they find the mutation, I am in the study. If I don't then I am not useful to them. The neurologist explained that they don't have the money to screen thousands of PD patients looking for the mutations. So they are hoping to take a shortcut by only screening those who belong to certain ethnic groups who are known to have those specific mutations. Once enrolled there is not much of a burden on the patients. The study will consist mostly of observation. There are not drugs to take and no invasive procedures such as spinal fluid taps. I never thought that having PD would make me useful for research. The world is full of surprises. Clyde |
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