Brilliant. Thank you both for this incredibly important interview. So much important ground covered in part 1 and 2 of this from tremor vs. non-tremor phenotypes, disease modification vs. symptom modification, biological subtypes vs. clinical subtypes, young-onset PD, the value of genetics and so much more. I am in awe.
Next time we talk with Dr. Espay, we'll try to ask what tips he has for managing apathy and depression. In the meantime, here's a conversation featuring Dr. Mathur and Dr. Pontone talking about depression, anxiety, and apathy, in case you might find it helpful: th-cam.com/video/BwSXt3FmtOE/w-d-xo.html And a link to the resources on our website about the same conversation: davisphinneyfoundation.org/event/webinar-depression-anxiety/
What do you do if you test positive for a particular gene? We had genetic testing done because my loved one has early onset and both is grandfather and uncle had Parkinson's. He tested positive for one copy of VPS13C. Is genetic counseling going to help? The results say "of unknown significance" however he has every symptom of this horrible, aggressive gene when it comes in two copies even though he only has one copy.
Your questions are exactly the types of questions a genetic counselor would be able to help with. Note that there are genetic counselors who focus on neurological conditions, and some who focus specifically on movement disorders. It is unlikely that you'll receive any actionable advice about treatments, prognosis, etc, regarding a variant of unknown significance, but a genetic counselor will be able to help you understand what is known about the specific variant in question, and, importantly, they will be able to help you and your family consider the likelihood that this gene may be a factor in the health of other members of your family. Three ways to find a genetic counselor: 1.) findageneticcounselor.nsgc.org/ 2.) Call the nearest movement disorder center and ask them to help you connect with the best genetic counselor. 3.) Ask the person who ordered the test to help you connect with a genetic counselor. In general, it's worth noting that there are few individual genes that any expert would possibly say can "cause" Parkinson's and there are many genes that experts have found to be associated with Parkinson's. While there are some symptomatic patterns and speed-of-progression patterns associated with some common genetic variants, there at present no approved treatments that target any specific genetic variant's impacts on a person's Parkinson's. Treatment research is ongoing for more common variants associated with Parkinson's--GBA and LRRK2, for example.
Did the discussion of head trauma come up as a possibility or a piece to why some people have Parkinson’s an others in family with same environment and living in the same house do not have PD but have different neurological conditions?
Not in this conversation, but there is an association between head trauma and Parkinson's: Here is an article that discusses Traumatic Brain Injuries and Parkinson's: europepmc.org/article/PMC/3511918 We cited this in a blog post about environmental exposures and Parkinson's: davisphinneyfoundation.org/industrial-chemicals-pesticides-and-parkinsons/
I feel I’m a subtype of one. I’ve never identified with any discussion of PD. And yet a knowledgeable neuro team came together (based on Datscan, symptoms, response to medication) to determine that DBS would [probably] help me. ..(Tremor dominated) How individual is it to have acquired new PD symptoms from the surgery itself? (Imbalance, odd body movement, memory loss, strange verbal expressions that certainly didn’t exist before). And as before surgery, nothing is improved by medication or DBS. I believe & hope I’m not being premature, as surgery was 2 months ago.
Thanks for your message. You're asking questions that are somewhat challenging to answer, but there is research suggesting that imbalance, cognitive issues, and speech issues may arise after DBS surgery. It is also possible that dyskinesia may result after DBS surgery as you and your team get the programming parameters set optimally for you. It's worth noting that it can take multiple programming visits and a period of multiple months before optimal results are achieved with DBS treatment, so keep working at it with your care team, and if you start to think you may benefit from another perspective on your programming, don't hesitate to pursue one from an additional provider. We'll include some links you might find interesting, below. davisphinneyfoundation.org/dbs-recovery/ neurologyevent.ucdenver.edu/dbs Video about communication impacts of DBS--th-cam.com/video/0NN-QG8T5Ho/w-d-xo.html Article about balance issues after DBS: www.ncbi.nlm.nih.gov/pmc/articles/PMC3465575/
@@davisphinneyfdn I can’t tell you how encouraging your reply has been..it’s given me a new perspective on my condition & situation. And just briefly reading through the first link has amazed me. I just wish I had known of all this info before surgery. I was aware of some of the risks, but went into it with a combination of hope & too much ignorance. I can now see things much clearer from my programmer’s perspective. As it is, every patient needs vary so much, & as I described my particular situation above, I can see what she’s up against. Thank you so very much for taking the time to reply & gather these links. I believe this will make a way out of my frequent episodes of anger & despair, because it’s given me back my hope…for months to come How I love Dr Espay, as everyone must! Looking forward to more of these these videos.
Brilliant. Thank you both for this incredibly important interview. So much important ground covered in part 1 and 2 of this from tremor vs. non-tremor phenotypes, disease modification vs. symptom modification, biological subtypes vs. clinical subtypes, young-onset PD, the value of genetics and so much more. I am in awe.
More of Dr. Espay please!
Wonderful discussion! Unfortunately i am still dopaminergically apathetic and depressed! The search continues!
Next time we talk with Dr. Espay, we'll try to ask what tips he has for managing apathy and depression.
In the meantime, here's a conversation featuring Dr. Mathur and Dr. Pontone talking about depression, anxiety, and apathy, in case you might find it helpful:
th-cam.com/video/BwSXt3FmtOE/w-d-xo.html
And a link to the resources on our website about the same conversation: davisphinneyfoundation.org/event/webinar-depression-anxiety/
What do you do if you test positive for a particular gene? We had genetic testing done because my loved one has early onset and both is grandfather and uncle had Parkinson's. He tested positive for one copy of VPS13C. Is genetic counseling going to help?
The results say "of unknown significance" however he has every symptom of this horrible, aggressive gene when it comes in two copies even though he only has one copy.
Your questions are exactly the types of questions a genetic counselor would be able to help with. Note that there are genetic counselors who focus on neurological conditions, and some who focus specifically on movement disorders.
It is unlikely that you'll receive any actionable advice about treatments, prognosis, etc, regarding a variant of unknown significance, but a genetic counselor will be able to help you understand what is known about the specific variant in question, and, importantly, they will be able to help you and your family consider the likelihood that this gene may be a factor in the health of other members of your family.
Three ways to find a genetic counselor:
1.) findageneticcounselor.nsgc.org/
2.) Call the nearest movement disorder center and ask them to help you connect with the best genetic counselor.
3.) Ask the person who ordered the test to help you connect with a genetic counselor.
In general, it's worth noting that there are few individual genes that any expert would possibly say can "cause" Parkinson's and there are many genes that experts have found to be associated with Parkinson's. While there are some symptomatic patterns and speed-of-progression patterns associated with some common genetic variants, there at present no approved treatments that target any specific genetic variant's impacts on a person's Parkinson's. Treatment research is ongoing for more common variants associated with Parkinson's--GBA and LRRK2, for example.
Did the discussion of head trauma come up as a possibility or a piece to why some people have Parkinson’s an others in family with same environment and living in the same house do not have PD but have different neurological conditions?
Not in this conversation, but there is an association between head trauma and Parkinson's: Here is an article that discusses Traumatic Brain Injuries and Parkinson's: europepmc.org/article/PMC/3511918
We cited this in a blog post about environmental exposures and Parkinson's: davisphinneyfoundation.org/industrial-chemicals-pesticides-and-parkinsons/
I feel I’m a subtype of one. I’ve never identified with any discussion of PD. And yet a knowledgeable neuro team came together (based on Datscan, symptoms, response to medication) to determine that DBS would [probably] help me. ..(Tremor dominated)
How individual is it to have acquired new PD symptoms from the surgery itself? (Imbalance, odd body movement, memory loss, strange verbal expressions that certainly didn’t exist before). And as before surgery, nothing is improved by medication or DBS.
I believe & hope I’m not being premature, as surgery was 2 months ago.
Thanks for your message. You're asking questions that are somewhat challenging to answer, but there is research suggesting that imbalance, cognitive issues, and speech issues may arise after DBS surgery. It is also possible that dyskinesia may result after DBS surgery as you and your team get the programming parameters set optimally for you. It's worth noting that it can take multiple programming visits and a period of multiple months before optimal results are achieved with DBS treatment, so keep working at it with your care team, and if you start to think you may benefit from another perspective on your programming, don't hesitate to pursue one from an additional provider.
We'll include some links you might find interesting, below.
davisphinneyfoundation.org/dbs-recovery/
neurologyevent.ucdenver.edu/dbs
Video about communication impacts of DBS--th-cam.com/video/0NN-QG8T5Ho/w-d-xo.html
Article about balance issues after DBS: www.ncbi.nlm.nih.gov/pmc/articles/PMC3465575/
@@davisphinneyfdn I can’t tell you how encouraging your reply has been..it’s given me a new perspective on my condition & situation. And just briefly reading through the first link has amazed me. I just wish I had known of all this info before surgery. I was aware of some of the risks, but went into it with a combination of hope & too much ignorance. I can now see things much clearer from my programmer’s perspective. As it is, every patient needs vary so much, & as I described my particular situation above, I can see what she’s up against.
Thank you so very much for taking the time to reply & gather these links. I believe this will make a way out of my frequent episodes of anger & despair, because it’s given me back my hope…for months to come
How I love Dr Espay, as everyone must! Looking forward to more of these these videos.
😎