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Gaucher Disease and the Gaucher-Parkinson’s Link

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Unread 11-16-2012, 10:32 AM   #1
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Default Gaucher Disease and the Gaucher-Parkinson’s Link

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Gaucher Disease and the Gaucher-Parkinson’s Link
Individuals with Gaucher disease have an estimated 20-fold increased risk of developing Parkinson's disease, and an estimated 5% to 10% of those diagnosed with Parkinson's are carriers of the Gaucher disease gene. Inherited genetic mutations in the GBA1 gene, which encodes for the glucocerebrosidase (GCase) enzyme, are the cause of Gaucher disease. Over the last decade, GBA1 mutations have also been identified as the most common genetic risk factor for Parkinson's.

Amicus has been a pioneer in investigating the link between Gaucher and Parkinson's disease. Over the past five years, Amicus has been developing pharmacological chaperones that target GCase as potential therapeutic agents for Gaucher and Parkinson’s diseases. Increasing the activity of GCase in the brain with a small-molecule pharmacological chaperone may reduce the negative consequences of carrying GBA1 mutations...

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mrsD (11-11-2013), wordsmithy (12-06-2012)
Unread 12-06-2012, 04:58 PM   #2
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23 and me offered free subscriptions to all my first degree relatives, since I have the GBA mutation and PD. One sister was a Gaucher carrier, the other was not. Neither has PD. Interesting to find out what is protecting them genetically.

The December newsletter from 23 and me was edifying on the link between GBA mutations and Parkinson's. The report quoted from this MJFF article:

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