Jump to content
ACN Latitudes Forums

Recommended Posts

For those who have had genetic testing on their children, has anyone found a gene mutation for PNKD? This gene causes a form of dyskinesia. If your child is positive for this mutation, are you doing anything to address this concern? Do you find that it relates to their behavior during a PANDAS / PANS flare? What are the behaviors your child displays during a PANDAS / PANS flare? Looking for similarities since I know PANDAS / PANS presents differently in different children. Thanks for any input!!!

Link to post
Share on other sites

Just browsed our data - both kids and I have a number of +/+ mutations for this gene, meaning both my parents gave me mine and my DH must also have at least one mutation in order for both kids to be +/+. Do you have the snp id # that's specifically for this form of dyskenesia? 23andMe gave me at least 2 dozens snps for this gene.

 

It hasn't been on my radar. My DS only had one event that resembled dyskinesia when he took one dose of tamiflu and DD has had one clonus event when she had an anti-cholergenic response to too much cold medicine. But neither have had dyskinesia issues during flares.

Link to post
Share on other sites

Thanks for the reply. Our testing was through courtagen. It is listed as a homozygous mutation. The wording is "the pnkd protein may function to modulate striatal neurotransmitter release in response to stress and other precipitating factors." I am wondering if this has anything to do with the severe fight or flight response we see. We aren't seeing the movements that are characteristic of the disorder.

 

Also, I noticed that the research says "lower glutathione levels were found in cortex lysates from PNKD knockout mice versus WT litter-mates." I know glutathione levels are something people have been discussing regarding holistic approaches.

Link to post
Share on other sites

Create an account or sign in to comment

You need to be a member in order to leave a comment

Create an account

Sign up for a new account in our community. It's easy!

Register a new account

Sign in

Already have an account? Sign in here.

Sign In Now
×
×
  • Create New...