Dr_Rosario_Trifiletti Posted March 13, 2010 Report Share Posted March 13, 2010 This is what I meant by the allusion to Enrico Fermi http://en.wikipedia.org/wiki/Fermi_paradox which is very interesting in its own right! Link to comment Share on other sites More sharing options...
DebC Posted March 13, 2010 Report Share Posted March 13, 2010 This is what I meant by the allusion to Enrico Fermi http://en.wikipedia.org/wiki/Fermi_paradox which is very interesting in its own right! I love reading your posts "real" Dr. T. Thanks for sharing your insight. Our ENT quizzes me every time we are in for what I feel is a root cause and I continue to tell him genetics combined with an environmental trigger. In our daughter's case, possibly the varicella vaccine as she had a chicken pox blister with the first injection and a full blown case of shingles with the booster when she was 7. My side of the family has rheumatoid arthritis, polychondritis, Sjogren's syndrome, and Behcet's syndrome. I think researchers and doctors such as yourself are getting closer to determining which factors play into this illness. Our ENT is very interested in learning more as we were his initial family with PANDAS and he mentioned the last time we were in that he is seeing 8 to 9 other patients that he suspects are PANDAS cases as well. I passed this web site and your name along to him for reference points. Link to comment Share on other sites More sharing options...
Chemar Posted March 13, 2010 Report Share Posted March 13, 2010 I know many members here usually only read the PANDAS forum, but the TS/tics forum is filled with anecdotal evidence that verifies that, altho the genetics are likely a big part of Tourette Syndrome, it is the environment, both internal and external and yes, what gets put into the inside from the outside, that seems to determine who manifests the TS symptoms and how they manifest We have learned such a lot since we started keeping that journal years ago to document what triggers my son's tics, OCD, Crohn's and other stuff (remember he has the whole caboodle of disorders in the TS spectrum ) there are a lot of question marks tho for me...like why did my younger son manifest all this, and older one not. Older one appears to have no neuro or health problems...younger one has a loooong list of them! The problem with the other DrT is that he has just likely never really looked into the very clear evidence that there is more to TS than just the switching on of a gene, or genes. I encountered that with so many physicians, and even other people with TS, that it doesnt even surprise me anymore personally, where I have no doubt about the infection connection in many many cases of TS, yet there are also other things that seem to flip that switch, or cause the immune system to go "wrong". It really has been an amazing thing to watch people pass thru the TS/tics forum here and see how things resolve for their kids once they get to the root of things. The diversity is astonishing. It has left me very open minded. Link to comment Share on other sites More sharing options...
P_Mom Posted March 13, 2010 Report Share Posted March 13, 2010 YES! I always wanted to know where these TS genes were!! So many docs say TS is totally genetic....caused by some "gene"...yet, no gene has ever been identified! Link to comment Share on other sites More sharing options...
Dr_Rosario_Trifiletti Posted March 13, 2010 Report Share Posted March 13, 2010 I know many members here usually only read the PANDAS forum, but the TS/tics forum is filled with anecdotal evidence that verifies that, altho the genetics are likely a big part of Tourette Syndrome, it is the environment, both internal and external and yes, what gets put into the inside from the outside, that seems to determine who manifests the TS symptoms and how they manifest We have learned such a lot since we started keeping that journal years ago to document what triggers my son's tics, OCD, Crohn's and other stuff (remember he has the whole caboodle of disorders in the TS spectrum ) there are a lot of question marks tho for me...like why did my younger son manifest all this, and older one not. Older one appears to have no neuro or health problems...younger one has a loooong list of them! The problem with the other DrT is that he has just likely never really looked into the very clear evidence that there is more to TS than just the switching on of a gene, or genes. I encountered that with so many physicians, and even other people with TS, that it doesnt even surprise me anymore personally, where I have no doubt about the infection connection in many many cases of TS, yet there are also other things that seem to flip that switch, or cause the immune system to go "wrong". It really has been an amazing thing to watch people pass thru the TS/tics forum here and see how things resolve for their kids once they get to the root of things. The diversity is astonishing. It has left me very open minded. I agree. Tourette's is a very complex disease. By no means are infections the only external factor. Potentially anything - nutrition, allergies, stress, etc. that somehow leads to dopamine excess in the basal ganglia results in tics. A multi-factorial disease if I ever saw one. I'm sure that King and Leckman would agree with this, I know both of them well. Dr. T Link to comment Share on other sites More sharing options...
Chemar Posted March 13, 2010 Report Share Posted March 13, 2010 YES! I always wanted to know where these TS genes were!! So many docs say TS is totally genetic....caused by some "gene"...yet, no gene has ever been identified! I know there is more recent work published, but here is one I have bookmarked on the identification of a gene mutation in at least some cases of TS. I will add links as I find the others http://www.ninds.nih.gov/news_and_events/n...gene_121505.htm Link to comment Share on other sites More sharing options...
Fixit Posted March 13, 2010 Report Share Posted March 13, 2010 YES! I always wanted to know where these TS genes were!! So many docs say TS is totally genetic....caused by some "gene"...yet, no gene has ever been identified! I know there is more recent work published, but here is one I have bookmarked on the identification of a gene mutation in at least some cases of TS. I will add links as I find the others http://www.ninds.nih.gov/news_and_events/n...gene_121505.htm Again i'm not shooting the messanger...and if this is the gene...it would be very sad, but it would be fantastic because then once my boy found a great girl, he could spin the vial and safely have children and not have to go through this.....as i've poured out before...watching my child going through this is more than i can bear and though i love my chidren above ALLLLLL else i would have not have had kids... That being said "The team then screened SLITRK1 (found near where the boy’s chromosome was abnormal) in 174 patients with TS and discovered an abnormality in the coding sequence of the gene in one family. The researchers also identified a separate mutated gene sequence in two unrelated individuals with the disorder. None of these mutations were identified among several thousand unaffected control individuals. Additional testing in cell cultures showed changes in protein expression or function, confirming the finding of the mutated gene. “We now have an important clue to examine Tourette syndrome on a molecular and cellular level. Confirming this, in even a small number of TS patients, will pave the way for a deeper understanding of the disease process and offer a potential target for the development of drugs to treat the disorder,” said Dr. State. The normal SLITRK1 gene is involved with the growth of nerve cells and how they connect with other neurons. The mutated gene was found in regions of the brain (basal ganglia, cortex, and frontal lobes) previously identified as being associated with TS. Several chromosomal regions with breaks had previously been identified as possible sites of a TS-causing gene. 1 kid?????? 174 patients and an abnormality in 1 family??? did the whole family have ts symptoms??? that's a bad ratio to me...that's like 1% of TS ANd i'm glad things are being done.... but maybe these are the people who are affected by myco p or allergies or other irritants. And once you get the irritant away from the abnormal gene, then things will be fine..... Because if the Gene was abnormal from birth and had nothing to do with enviroment.....the condition would be constant through out life Downs children arent less downs or more downs at 5,10, 15 or 20 Obviously somethng in my kids body was turned on that wasn't on 1 year ago and i want it turned off Link to comment Share on other sites More sharing options...
P_Mom Posted March 13, 2010 Report Share Posted March 13, 2010 That is how I felt after reading it. In their header, they say a "gene has been found," but, in the first paragraph, they use the word "MAY be responsible." (quite a difference in my mind) And like you said....1 kid in 174 tested....doesn't sound to me like a gene has been found. I wish it was.......... Link to comment Share on other sites More sharing options...
Chemar Posted March 13, 2010 Report Share Posted March 13, 2010 sorry...I was busy with work so didnt add the other links here is current info from TSA showing there is much active research on mapping TS genes http://www.googlesyndicatedsearch.com/u/To...F%2Ftsa-usa.org I will also dig up the past threads from the TS forum with additional info Link to comment Share on other sites More sharing options...
Chemar Posted March 13, 2010 Report Share Posted March 13, 2010 and here is the one I meant to link initially https://www.23andme.com/health/Tourettes-Syndrome/ sorry that is what I get for posting while working...mixed up bookmarks Link to comment Share on other sites More sharing options...
P_Mom Posted March 13, 2010 Report Share Posted March 13, 2010 Thanks....all that is good info., however, I still fail to see anywhere where they have found a definite gene. Link to comment Share on other sites More sharing options...
Chemar Posted March 13, 2010 Report Share Posted March 13, 2010 P.Mom did you read the link I just posted re 23 and me? Link to comment Share on other sites More sharing options...
P_Mom Posted March 13, 2010 Report Share Posted March 13, 2010 Yes......but it only states "moderately higher odds." I want a definite link! Link to comment Share on other sites More sharing options...
Chemar Posted March 13, 2010 Report Share Posted March 13, 2010 sorry I think we are likely talking different things. I thought you were asking if there was any research showing genetics involved in TS, not whether there is proof positive for a gene being identified ...no one has claimed that they already have mapped "the" gene(s) for TS, but from all the research being done, coupled with family history (like ours) they are already identifying gene markers etc I dont know if there will ever be found to be "a gene" for TS but rather that they will find many variable mutations, possibly some unique to specific families and possibly some crossover. But I have no doubt in my mind that in many cases, especially where there is clear family history, genetics is at the root of TS, with the "environmental factors" being the "trigger" for its manifestation Link to comment Share on other sites More sharing options...
Fixit Posted March 13, 2010 Report Share Posted March 13, 2010 Again not shooting the messanger.... But if all theses studies are going on,,,,,why aren't they asking me for 3-4 samples of DS blood and a sample of his parents to see if its the Double C or the SL Pull a sample from everyone willing to give a sample...and if you see 2-3 neuros just make sure you give to 1 neuro or have a code number that is yours that if another sample is needed they'll not double the information!!!!! I don't get it????? I don't think its too hard to get a sampling..... All the newer deceases, like the lady from samatha who...found gene that tells her her she is more likely to breast cancer or that other lady on HOuse who has that desease that will end up killng her by X age.....i'm sure more people have ts/ocd than that decease.. Link to comment Share on other sites More sharing options...
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