Hannah’s 3-month Gaucher Marker update
June 2, 2009 by Melenie
Filed under Docs, Appts, and Procedures
We got the results from Hannah’s gaucher markers bloodwork. These are the three levels that are incredibly raised when the patient has Gaucher’s Disease. I’m waiting to hear back from Dr. Schiffmann on whether this is what he had hoped/expected, but they do look significantly down in just three months!
From 2/9/09 to 5/4/09:
Angiotensin converting enzyme (ACE) – 205 IU/L down to 102 IU/L (normal 26 to 106)
Chitotriosidase (CHITO) – 636 nmoles/hr/ml down to 215 nmoles/hr/ml (normal 4 to 120)
Tartrate resistant acid phosphatase (TRAP) – 52.1 IU/L down to 20.2 (normal 3 to 10)
Link between Parkinson Disease and Gaucher’s Disease
January 31, 2009 by Melenie
Filed under Gaucher's - Research, Parkinson's Link
My non-science brain is trying to process all the information there is out there on Gaucher’s disease.
In my research, I’ve come across quite a few recent articles regarding a link between Parkinsons and GD, even on the Michael J. Fox Foundation for Parkinson’s Research. Google has over 125,000 documents listing both of those diseases in the same page. (I know that doesn’t mean there are 125,000 pages on the two together, they could be just listed on the same page). I definitely want to look more into this, as perhaps this is one of the missing pieces of one of the puzzles…
Understanding the Role of Glucocerebrosidase in Parkinson’s Disease Pathogenesis
Parkinson’s Disease and Gaucher’s disease share many clinical and neuropathological features.Treatment of Parkinson’s Disease with AT2101, a Compound that Increases the Activity of Endogenous Glucocerebrosidase
Genetic association studies have suggested a link between Parkinson’s and Gaucher disease. Gaucher disease is a lysosomal storage disorder caused by mutations in the gene GBA, which results in a loss of glucocerebrosidase (GCase) enzyme activity and a toxic accumulation of glucosylceramide in the lysosomes. Several studies have found an over-representation of GBA mutations among patient’s with Parkinson’s disease (up to 14 percent in non-Jewish populations and 30 percent in Ashkenazi Jews)…Together these models will provide a test of AT2101 efficacy for the reduction of alpha-synuclein in both Gaucher-associated and idiopathic Parkinson’s.
