Parkinson’s disease is typically characterized in a clinical setting by the present of tremor, rigidity, bradykinesia (slow movement), and in the later stages, postural instability (balance).
Researchers from the University of Pennsylvania report ( JAMA Neurology) that the appearance of proteins in the spinal fluid may be the key to identifying affected patients early in the disease process, long before symptoms set in. The study results, which came from the Parkinson’s Progression Markers Initiative (PPMI) study. PPMI is sponsored by the Michael J Fox Foundation and aims to take biological measurements from 400 patients and 200 healthy controls to better understand the onset and progression of the disease.
The study found that people with early stage Parkinson’s had lower levels of the biomarker proteins amyloid beta and alpha synuclein.
It also distinguished between people with different disease presentations:
- those with higher levels of motor dysfunction, had lower levels of tau and alpha synuclein,
- those whose muscles tended to freeze, or people who had difficulty walking, showed lower levels of amyloid beta and tau.
These promising results suggest we may be able to detect Parkinson’s with spinal fluid earlier, which could change the way it is diagnosed and treated. It also suggests for the first time that there may be different types of the disease with different potential treatments. This seems to support the hypothesis that Parkinson’s disease is a “spectrum”, and that people are diagnosed and face different disease along the “dopamine spectrum”.
This is definitely a step in the right direction. Having a biomarker to enable earlier detection and better disease management will improve the quality of life of all those involved. Really exciting! much love.
this summer, some great stem cell research with implications for Parkinson’s disease came out of the Centre for Brain Research Centre at Aukland University, New Zealand.
in the brain, a slippery coating (polysiatic acid) on brain cells enable them to move easily to their destination, connect with other brain cells and turn into neurons. once they reach their target, the slippery coating is removed and the cell gets locked in place.
researchers have found that in neurodegenerative diseases, like Parkinson’s disease and Alzheimer’s disease, there is an oversupply of insulin that blocks the process of removing the slippery coating. They are currently working on drugs that will act to increase the amount of reabsorption to help brain cells re-connect with each other. This is a clue to the decrease in brain plasticity seen in neurodegenerative diseases.
The study results were published online in July’s ‘ahead of print’ version of The Journal of Neurochemistry. ‘Insulin and IGF1 modulate PSA-NCAM turnover in a process involving specific extracellular matrix components’, by Hector J. Monzo, Thomas I. H. Park, Birger Victor Dieriks, Deidre Jansson, Richard L. M. Faull, Mike Dragunow, Maurice A. Curtis.
some really exciting findings that will contribute to the development of possible disease modifying treatments for neurodegenerative diseases! much love.
Have you seen National Parkinson Foundation‘s new app?
It’s a really comprehensive app designed to provide information on symptoms, both motor and non-motor (they have a great section on depression), current research, treatments and where to go for more resources and support!
“I’ve got the gene for …”
Have you thought about genetic testing? Thought about finding out what might be in store for you? Would finding out something change the decisions you make? Change how you live your life?
Would knowing empower you or cripple you by casting a shadow over the rest of your life?
A “family decision”?
… because it’s not only about you. Testing yourself means testing your family; “Don’t you see? If your test is positive, it means I’ve got the gene, too. And I don’t want to know. I have a right not to know, don’t I?”
This genetic knowledge is also most likely to have a great impact on the choices to be made by those who are contemplating parenthood. Could decisions around fertility, and advanced in-vitro fertilization techniques, like preimplantation genetic diagnosis, “prune” genetic diseases from a family tree?
Diagnosis vs. Treatment.
These are the issues we face as scientists learn more about genetics…. the balance between knowing and not. What should be do with all this new information? Especially when genetic disease prediction continues to outpace medicine’s ability to treat or cure. For example, we have a genetic test for Huntington’s disease that can confirm a mutation, but it offers no treatment for the devastating symptoms. This leads to a therapeutic rift between what we know and what we can do.
What about socially and/or legally? What if the results might become public and cause exclusion from employers or insurers. Laws to prohibit discrimination of people with a history of genetic disorders are not yet completely in place.
Margaret R. McLean, director of Biotechnology and Health Care Ethics at the Markkula Center for Applied Ethics, offers the following questions to clarify some of the key issues facing medical genetics in the years to come;
1. What is the purpose of taking a particular genetic test? Who is affected by the results?
2. Who has control of genetic information?
3. What does it mean to offer genetic testing and/or therapy in the absence of universal access to health care?
4. On what basis should someone undertake genetic intervention such as genetic constructive surgery if and when it becomes available?
5. For what kind of genetic future are we planning?
… or improved resources?
… or can it lead to a wealth of research resources, like the story of 23 and me’s Anne Wojcicki and her husband (google founder) Sergei Brin. “Brin, who began donating to Parkinson’s research in 2005, accelerated that giving after he learned in 2008 he has a flawed gene (LRRK2) that presents him with a 50 percent chance of getting the disease by age 70. So far Brin has donated $132 million, mostly through the Michael J. Fox Foundation for Parkinson’s Research, to help create a DNA database of 7,000 patients and to support work on the first targeted treatments that aim at the genetic causes of the movement disorder.” (source)
Have you had genetic testing? Have you thought about it? What is most attractive about genetic testing to you? What is the biggest barrier? Please share your thought’s in the comments below! much love.
I’m not sure if you know, but the 3rd World Parkinson Congress is coming to Montreal this October!
… and they have an amazing app to help you navigate all the speakers, sessions and renewal room programs.
p.s. if you are heading to Montreal this October, let me know! I have a poster session (Thursday from 1130-130 in room 220C) and two yoga classes (see renewal room program HERE) with Renee LeVerrier (check out her website HERE) … come say HI!