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The takeaway
Why is it important?
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IMPACT
- Novelty 70%
- Proximity 50%
- Deliverability 70%
Impact Opinion
The Michael J Fox foundation supported “Parkinson’s Progression Markers Initiative” (or PPMI) as a game changing project for Parkinson’s. Huge amounts of data are being collected which are giving us interesting insights into the condition, as this study demonstrates. Longer term assessments will be necessary to assess the trajectory of progression in these groups, but already this rich dataset is providing useful findings.
Background
Mutations in LRRK2 and GBA are the most common genetic risk factors for Parkinson’s, accounting for about 10% of all cases, and potentially more in specific ethnic groups. Although there is some research pointing to differences in the kinds of symptoms people with these mutations have, there are still residual uncertainties about these and how pronounced they are.
The Parkinson’s Progression Markers Initiative (PPMI) is an ongoing international study aimed at identifying what features, symptoms or biological markers might predict how the condition evolves over time. The data of people with Parkinson’s up to 3 years from diagnosis, enrolled between 2010-2019, were analysed. This analysis focused on carriers of LRRK2 and GBA mutations, specifically to characterize them both in terms of their symptoms and using neuroimaging markers indicative of dopamine function.
The details
In comparison to sporadic Parkinson’s, those carrying GBA mutations didn’t on average appear to have different or more severe motor or non-motor symptoms, in contrast to previous research. Those with LRRK2 mutations appeared to have less severe movement problems and sleep disturbances. Of note, both of the genetic subgroups had a greater rate of impulse control disorders, but their brain scans showed that dopamine dysfunction was not as severe as people with Parkinson’s who had no known mutation.
