Miglustat is a medicine for Gaucher disease. As there is a link between Gaucher disease and an inherited form of Parkinson's disease I was wondering whether this drug could help PD patients with the GBA mutation. Researching this further I discovered that miglustat crossed the blood-brain barrier. So in theory miglustat could be helpful for PD patients with the GBA mutation. However, I don't find anything of a trial or test with miglustat for PD. The only thing I found was for the Niemann-Pick disease.

Does anyone know more about Miglustat trials for PD ? It is just hard for me to believe that this medicine has not been tested on PD patients with the GBA mutation.

Mister X

do you know which GBA mutation is linked to Gaucher disease and inherited Parkinsons ?

i have  been trying to research the genes involved in inherited parkinsons , both myself and my mother have parkinsons  and my maternal grandfather had some kind of dementia, given that information my neuro asked if i would be interested in taking a genetic test in which they were looking for the LRRK2  mutation , i had the test done last week and await the results i have been told it could take up to 2 months

I have had a 23andme  test but not fully understanding the results to technical for me confused

Shelly, I also had my genes tested at 23andMe. You go to "My Results" and then you select "Health risks". Then you get a list of all the diseases for which you got a high risk. If you have parkinson genes, you will see parkinson's disease in that list. You click on "parkinson's disease" and a new page will open. You scroll down untill you see "Marker effects". There you see the most important parkinson's disease genes: LRRK2, GBA, SNCA, MAPT, PARK16, BST1, DGKQ, STK39. Now, for each of this gene there is a bar set. If the bar is green, the gene is safe for PD. The larger the bar, the less your odd of getting PD. However, if the bar is red, than this gene can cause you a problem. You can click on the coloured bar. If you do so,  underneath the table, you will get explanation of that specific gene. If you click on the GBA gene, you can see that it concerns the N370S mutation.

I hope with this info you can figure out what gene is causing the problem. If PD is in your family, your 23andMe results probably will show you one of the genes with a large red bar. If you need more help figuring out your results ... just ask.

Thank you Mister x

i have a red bar on the SNCA  gene it says rs 356220  genotype CT its only a slightly increased risk  not that it makes any difference to me or my mum   we have pd , its more the risk to my children etc  its looks more down to envoiremental factors that caused both  mine and my mothers pd which is good news in a way as my children are not at a higher risk ,

Thank you for the info Mister X

Strange. I created this topic 10 years ago and now in 2024 there is still no answer to this question by the scientific community. They are talking about repurposing of drugs. How on earth has this drug yet not been tested for parkinson’s disease ? Even people without the GBA mutation have an issue with this enzyme. Yet it is not tested yet.