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06-09-2016, 06:58 PM
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... in the case of Parkinson’s disease, the most common genetic risk factor identified to date came about from an unanticipated clinical finding made in the genetics clinic during studies of patients with the rare lysosomal storage disorder Gaucher's disease. In most populations with Parkinson’s disease, mutations in the glucocerebrosidase (GBA) gene are more frequent than in other implicated genes including dardarin (LRKK2),α-synuclein (SNCA), and parkin (PARK2).
The link between the GBA gene and parkinsonism
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06-09-2016, 07:04 PM
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Mov Disord. 2016 Jun;31(6):830-5. doi: 10.1002/mds.26616. Epub 2016 Apr 19. Glucocerebrosidase in Parkinson's disease: Insights into pathogenesis and prospects for treatment. Glucocerebrosidase in Parkinson's disease: Insights into pathogenesis and prospects for treatment. - PubMed - NCBI
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In the last analysis, we see only what we are ready to see, what we have been taught to see. We eliminate and ignore everything that is not a part of our prejudices. ~ Jean-Martin Charcot The future is already here — it's just not very evenly distributed. William Gibson |
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| "Thanks for this!" says: | GerryW (06-10-2016) |
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gene mutation in Gaucher Disease most common genetic mutation in Parkinson's
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