[anagirl]

http://www.dddmag.com/news/2014/02/p...4&location=top

[Tupelo3]

Originally Posted by anagirl

http://www.dddmag.com/news/2014/02/p...4&location=top

Thanks for posting this, Ana.

I spoke with the research team today. They are specifically looking for the following individuals:

1. People with PD who are of Eastern European (Ashkenazi) Jewish, North African Berber, or Basque ancestry.

2. People without PD who are related to someone with PD AND who are of Eastern European (Ashkenazi) Jewish, North African Berber, or Basque ancestry

Individuals who meet either of these criteria may be eligible to receive genetic counseling and testing at no cost to determine if they may qualify to participate in PPMI. To get started:

If you've never been genetically tested, go to this link and sign up:
https://www.michaeljfox.org/get-invo...vey-screen.php

If you have been tested and are positive for the LRRK2 mutation, go here:
http://ppmi.iu.edu/

Please participate if you qualify. PPMI is a one of the most important ongoing PD studies and the more information collected, the more knowledge we will all have.

Thanks,

Gary

[anagirl]

Thank you for all of this information - so helpful!

Do you (or anyone) know if there is a way to see if you have any LRRK2 mutations from the 23andme raw data? There are so many LRRK2 genes that come up - do I just go through each one looking for a "positive"?

I also saw your post about Firefox and the SNP's ~ of course I just realized I never downloaded Firefox onto my new laptop. I will do that tomorrow!

Thank you!

Originally Posted by Tupelo3

Thanks for posting this, Ana.

I spoke with the research team today. They are specifically looking for the following individuals:

1. People with PD who are of Eastern European (Ashkenazi) Jewish, North African Berber, or Basque ancestry.

2. People without PD who are related to someone with PD AND who are of Eastern European (Ashkenazi) Jewish, North African Berber, or Basque ancestry

Individuals who meet either of these criteria may be eligible to receive genetic counseling and testing at no cost to determine if they may qualify to participate in PPMI. To get started:

If you've never been genetically tested, go to this link and sign up:
https://www.michaeljfox.org/get-invo...vey-screen.php

If you have been tested and are positive for the LRRK2 mutation, go here:
http://ppmi.iu.edu/

Please participate if you qualify. PPMI is a one of the most important ongoing PD studies and the more information collected, the more knowledge we will all have.

Thanks,

Gary

[Tupelo3]

Originally Posted by anagirl

Thank you for all of this information - so helpful!

Do you (or anyone) know if there is a way to see if you have any LRRK2 mutations from the 23andme raw data? There are so many LRRK2 genes that come up - do I just go through each one looking for a "positive"?

Thank you!

The LRRK2 variant most commonly tested for PD is the G2019S mutation. This can be found on the rs34637584 SNP. The mutated allele is A and it only takes one copy of the mutation to significantly increase the lifetime chances of getting PD.

[anagirl]

Thank you so much Tupleo - i really appreciate your help!
I just haven't sat down to spend enough time learning how to read my info on 23andme. So i just reviewed the page which show my Parkinson's data - I do not have the LRRK2 mutation, I'm GG. But I do have some issues (red marks) with the other genes - SNCA, MAPT, PARK16, BST1. It's all very interesting!
I have an appointment with my neurologist next month, so I will discuss it with him. Thanks again for all of your help!

Originally Posted by Tupelo3

The LRRK2 variant most commonly tested for PD is the G2019S mutation. This can be found on the rs34637584 SNP. The mutated allele is A and it only takes one copy of the mutation to significantly increase the lifetime chances of getting PD.

[Tupelo3]

Originally Posted by anagirl

Thank you so much Tupleo - i really appreciate your help!
I just haven't sat down to spend enough time learning how to read my info on 23andme. So i just reviewed the page which show my Parkinson's data - I do not have the LRRK2 mutation, I'm GG. But I do have some issues (red marks) with the other genes - SNCA, MAPT, PARK16, BST1. It's all very interesting!
I have an appointment with my neurologist next month, so I will discuss it with him. Thanks again for all of your help!

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

[anagirl]

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.

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

[bigguyclyde]

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