PNKD gene Mutation

[CJD]

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!!!

[LNN]

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.

[Mayzoo]

How would I find this gene amidst all the results I have on kiddo? Thanks .

[Mayzoo]

Okay, I found this....http://www.snpedia.com/index.php?search=PNKD&title=Special%3ASearch

 

Of the four listed on that site, only Rs2382817 shows up on the 23andme raw data. My kiddo is -/- for that one.

Edited June 16, 2013 by Mayzoo

[LNN]

Thanks Mayzoo. My kids and I are all +/+ for this one. But as I said, no TD issues and none in my family history...thank goodness.

[CJD]

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.