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:
Originally Posted by Tupelo3
You're very welcome Ana.
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
|