Genetic Testing

[mlsirkis]

Who has received genetic testing for GBA or LRRK2 gene mutations as a cause for Parkinson's?

[Hollandaise]

They offered me a genetic test some years ago, i don't know if it was the one you mentioned, but i didn't want it. I have two children and if I would have the gen, there was a chance of 1 to 2 that they have it too. I couldn't stand the thought so i prefer not to know.

[mlsirkis in reply to Hollandaise]

I am not a medical doctor -- so no medical advice. There is no gene that is known at this time as an indicator of Parkinson's. However, a recent advance in research has shown that if a person diagnosed with Parkinson's is shown to have a mutation in either the GBA or LRRK2 gene then that mutation is most likely the cause of the PD.

For more information -- Google

mjff GBA Parkinson's

mjff LRRK2 Parkinson's

The reason that you would want to know if you have a gene mutation is because there are new drugs in the pipeline and at least one undergoing clinical trial that targets PD caused by a GBA mutation. If you are aware that you have this mutation then you would want to be kept aware of these new drugs because they may be of help to you.

michaeljfox.org/foundation/...

[PNIAuthor60]

I am new to this community, parent of a young man diagnosed with early onset, can you explain to me the purpose of genetic testing and what these things are that you mention: GBS or LRRK2 gene mutations? His new neurologist has applied to our Canadian government for additional genetic testing but we have not yet been informed what this is all about. Any insight would be appreciated. Thanks in advance, misirkis

[mlsirkis in reply to PNIAuthor60]

I am not a medical doctor --- so no medical advice. There is no gene that is known at this time as an indicator of Parkinson's. Most Parkinson's is idiopathic (cause unknown).

However, a recent advance in research has shown that if a person diagnosed with Parkinson's has a mutation in either the GBA or LRRK2 gene, then that mutation is most likely the cause of the PD.

There are new drugs in the pipeline and at least one undergoing clinical trial that target Parkinson's caused by a GBA mutation. If your son has one of these mutations, then you would want to be kept informed of these new drugs because they may be beneficial to your son.

Google:

mjff GBA Parkinson's

mjff LRRK2 Parkinson's

[PNIAuthor60 in reply to mlsirkis]

Thank you so much for sharing this information with me and helping me to understand. I will definitely google the information that you have set out for me. Thank you again, it means the world to me!

[jrg54321]

I took a genetic test for these genes as part of a clinical trial. It's on the fox trial finder website. You need to have Ashkenazi heritage to qualify for it. It turns out I don't have any of the mutations, so still "cause unknown" for my pd.

[GymBag]

I had genetic testing done by 23andme as part of their extensive effort to make a difference with PD. Their test showed that those particular genes in my genome where not a factor in my having PD and they said that the chance that PD may be caused . effected / determined by genetics is about 6 %.

[mlsirkis]

I applaud you for having this testing done. You now have the knowledge of which treatments would apply to you.

[Cbgs]

I have been tested and as I am of Ashkenazi descent , turns out I carrry the Gaucher's gene which they think caused my PD

I have joined the PPMI biomarker R&D

I go to CT in August for MRI, DatScan & spinal fluid tests

PPMI.org

[mlsirkis in reply to Cbgs]

I too have the GBA gene mutation and like you, it is believed that this is the cause of my PD.

I joined the PPMI study, in Philadelphia, a year ago.

You may find the following of interest:

clinicaltrials.gov

condition/disease Parkinson's

Other Terms GBA

Click all studies: see 11 studies.

Also

silversteinfoundation.org/.

[Cbgs in reply to mlsirkis]

I'm excited to be a part of the trial

How has it been for u ?

Where in Philly r u?

I love philly ! Went to the eastern st pen for Halloween

Went to mummers parade for New Years

Mutter musesum

A cousin lives in swathmore

[LAJ12345]

Genetic testing is not just for that gene. There is other information you can find out to improve your health. Has anyone had a test for the mthfr gene that means you don’t process b vitamins properly so there is too much homocysteine in your blood? You might not want to know if you child has a the Parkinson’s gene but if you know they have this mutation that stops folate processing properly they can modify their diet to reduce the risk from this source if they have this gene. Having this gene is quite common but doesn’t always lead to PD

theboydclinic.co.nz/product...

outthinkingparkinsons.com/a...