CJD is a disease caused by a misfolding protein, called a prion. (PREE-on) Prion diseases are a group of rare and fatal brain diseases which occur in both humans and animals. In humans, it is known as CJD. Cows get BSE, which stands for bovine spongiform encephalopathy. Deer and elk contract CWD, or chronic wasting disease. There is no cure or clinical diagnosis for CJD. There is no cure for any of the diseases in the prion family.

Sunday, June 04, 2006

Fascinating E200K News

I think this new study from the Canadian Journal of Neurological studies is pretty interesting. When my mom was dying of CJD, a dry cough she had drove me nuts. My mom actually exhibited the cough for months before the cognitive and physical symptoms of her CJD, like cerebellar ataxia and myoclonus, showed up. My mother coughed almost non-stop sometimes. I'd get on her case about it but she'd just dismiss it as allergies. Being around someone who coughed like this was rough; it was irritating and easily got on my nerves and my father's too.

I forgot about the cough because it paled in comparison to other CJD symptons like incontinence, aphasia, ataxia, myclonus, loss of eyesight and inability to walk. I was reminded of it again by Tracy K. at the CJD Foundation when she was filling out my questionaire. Tracy told me around 10-15% of patients experienced this persistent dry cough as a symptom of CJD. (Tracy, correct me if I'm wrong).

The CJN study talks about a mother and son who suffered the 200K mutation of CJD, 20 years apart, and both exhibited the same persistent dry cough. My mother's mutation was E200K, 129M.

So does this then mean that the persistent dry cough is a hallmark of the 200K gene mutation?

Here's a link to the study:

http://cjns.metapress.com/