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Kristakj78

Genetics Testing

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So my genetics testing came back inconclusive, so gotta wait again.....ugh. Was done in mid Dec, and they said results would be back Jan 17th....been playing phone tag, and now they're saying end of Feb cause they need to "make sure." I'm just curious.

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So got the genetics test back today (finally). It showed something with the LRRK2 gene. My neuro wants me to talk to the genetic counselor about it more, but she isn't in til Monday. Does anyone know anything about this specific gene?

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LRRK2 mutations are a known cause of genetic parkinsonism. This is a dominant gene, meaning that even a single copy-inherited by the mother or the father-may cause the disease. Each child of a carrier of this mutated gene has 50% chances of inheriting the mutation. However, the actual risk of developing parkinson's later on in life is much lower, because the gene is expressed to cause parkinsonism only in a small percentage of all mutation carriers. Mean age of LRRK2-related Parkinson's is 60 years of age (resembling late-onset PD). The progression is slow.

 

Information on LRRK2-related PD can be found here: http://www.ncbi.nlm..../books/NBK1208/

Edited by christie

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Sorry gang, i was just reading the above posts and accidentally hit the quote tab. Wish I knew something to contribute but I don't.

 

eileen

Edited by woodbee

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