Isolated (non familiar)Parkin gene mutations - early onset Parkinsons

Not sure this message is in the right topic area on the Forum but .....
Could you let me know if anybody in the UK or elsewhere is working on helping those of us with mutated Parkin genes? I was diagnosed 20 years ago at the age of 22 and until 3 years ago managed my condition with trihexyphidyl alone. Now I am on trihexyphenidyl, amantadine, ropinerol XL,rasagaline and simenet and have been told there is nothing anyone can do to help me with my "parkinsons disease like symptoms" (which include falling at least once a day,freezing, and being unable to walk because of overactive arms) because so little is known about this specific area. My consultant at the National called me "random" but there must be others like me?
Hi Lexi,

I also have the gene mutation and have had early onset Parkinson's Disease since I was seven. I go to the National too...have you enquired about DBS ? I had the op 5 years ago and its definately helped!
Hi Lexi and Matt, thanks for posting.

Understanding the underlying genetics of Parkinson’s is a major focus for our research.

We've given Dr Oliver Bandmann at the University of Sheffield a 3 year grant worth £239,593 to study changes in the parkin gene in zebrafish. We hope this will help us understand how changes in parkin cause Parkinson's in people - and to develop new and better treatments.

You can read more about Oliver's project here:

http://www.parkinsons.org.uk/pdf/g-0901_bandmann_zebrafish.pdf

I'm afraid I don't know of any research studies underway at the moment that are looking into helping people with Parkin mutations specifically - but there are lots of Parkinson's studies happening all over the UK, which you can browse on our website:

http://www.parkinsons.org.uk/researchstudies

If you'd like more information about treatments for Parkinson's, there's lots of great info on our website:

http://www.parkinsons.org.uk/about_parkinsons/treating_parkinsons.aspx

And there are Parkinson's nurses on our free and confidential helpline 0808 800 0303.

Hope this helps!
Matt - great to hear from you. I looked into DBS, Gene therapy etc but have been told by 2 consultants they dont think either of those options will help my particular symptoms which are very much gait related and as such not easy to medicate. I am seeing the Apomorphine specialist nurse tomorrow - so I'm crossing my fingers that there will at least be one treatment that may give a glimmer of hope. Do you have any idea who the "gene mutation gurus" are? I have searched online and read as many studies that I can understand on this topic (not many) and most of the articles are at least 10 years old so you would think some progress should have been made.
hi Lexi ,

My main problems are with gate too and ive tried apomorhine on a continuous infusion which worked ..but was awkward to lug round and set up each day . It was bad in hot weather too as the dressings came off and the needle fell out if a sweated at all . Yuck....Fingers crossed it works for you ! All the best!
Matt

Regarding specialists on the mutated Parkin gene- Prof Niall Quinn was always the top guy.
That does not sound good but is so good to know - thanks. Did it stop the problems with your gait depsite being uncomfortable or was n't it worth the effort. What medication are you on or did the DBS "cure" your gait problems?
Niall Quinn was my consuiltant until he "retired" to his private practice - he was the first person to tell me I had Parkinsons in a lecture theatre full of med students -not nice.
Will let you know how I get on.
Could I ask how you know you have Parkinsons with a mutated gene? Its just I have essential tremor or Parkinsons (not sure due to being many years ago) in my family. I also have had it for several years without needing any medication. Im 46. Thanks Summerskye
Can you tell me the difference if any . Nothing my husband has taken seems to help his mobility gait . He has taken Sinemet plus and CR now along with The Rotigotine Patch for the past 4 years he is 77 now . At what stage do they generally try the Pump . I would love to see my husband have a day when he might feel even a little bit better