Cure CJD

Heather Larson's experiences in helping find the cure for CJD

What codon 129 does

Dr. Brian Appleby posted an interesting blog this morning about genetic susceptibility to kuru.  I thought it was interesting to learn more about what codon 129 is responsible for since wee see this on our NPDPSC autopsy paperwork.  As someone who lost a mother at age 56 to fCJD, I thought it was interesting to learn that codon 129 affects age of onset of the disease.  I’ll have to find my mom’s paperwork, because I can’t remember what she was on codon 129.


October 25, 2009 - Posted by | Uncategorized | , , , , ,


  1. This would be something that I would be interested in knowing when you find out.

    Comment by Amanda | November 4, 2009

  2. So sorry for your losses, painful to see these deaths.

    I was wondering, how does one go about getting genetically tested for susceptibility. My dad just died, and the best guess is encephalitis, but I’m not convinced it wasn’t prion… e200K, M129V… How do you get tested?

    Comment by Julie | January 5, 2010

  3. Hi Julie,

    That’s a good question, and one I’ve been wondering about myself. I have yet to get tested for the mutation and am extremely conflicted about getting the test done. I think maybe this is something I am going to have to look into and blog about since people are really starting to ask about it.

    Heather Larson

    Comment by CureCJD_Heather Larson | January 5, 2010

  4. Hello my name is Bridgett madden I live in Hampton va . In 1996 deer in yorktown appeared to be sick . While running through the wood I saw a deer who did try to run away it’s coat looked dry and patchey. I didn’t think much at the time. Until now I lost my dad to vcjd July 27 2012. I am trying to find some help for me and my. 6 yr old son who is experiencing syptoms . I am going to call dr. Appleby I hope he can slow the progress of cjd. With the drug quinacrine pentosan poly sulfite. I am desperate and afraid if any one can help please call XXXXXXXXXX… I am callin ucsf in the am. Dr.micheal geschwind at anytime…

    Comment by Bridgett madden | July 30, 2012

  5. Hi Bridgett,

    I am sorry to hear about your father. Your family is in my prayers.

    Allow me to clear up a couple things for you, it might help you.

    First, if you lost your father only 2 days prior, it is impossible to have a diagnosis of vCJD so quickly. The NPDPSC at Case Western in Ohio performs autopsies at no cost to families in order to conduct surveillance in the U.S. It may take months to receive a result on that autopsy if you choose to do it. My mom’s autopsy came back to me in July of 2005 after my mom died in November of 2004. It is always best not to panic until you get a result. In my case, the result confirmed fCJD as suspected since my mom was not the first family member to die of something with CJD symptoms.

    If your son is experiencing CJD-like symptoms at age 6, it is not likely he is suffering from a prion disease due to the long incubation period. Get him to a doctor so he can get the care he needs. There are many diseases that are similar to CJD. Many of those are treatable; CJD is not.

    Quinacrene and pentosan polysulphate have had limited success and I am uncertain as to whether they are still being tested and if so how they would be tested now.

    Doctors Appleby and Geshwind are excellent doctors who can definitely answer your questions! Do contact their offices and good luck.

    Also, I am not sure if CWD has been detected in Vermont. According to, it has not:

    Your family is in my prayers.

    ~Heather Larson


    hotwords (@) mac (dot) com

    Comment by CureCJD_Heather Larson | July 31, 2012

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