On the connection between GBA mutation and deep brain stimulation.

GBA mutations are genetic changes or errors in a specific gene called “GBA.” Genes are like blueprints for our bodies, and they contain instructions for making proteins that are important for our health. If there is a mutation in a gene, it means that these instructions are faulty.

In the case of GBA mutations, this affects a gene that is associated with an increased risk of developing diseases, particularly Parkinson's. Parkinson's is a disease of the nervous system that causes movement problems and other symptoms.

If someone has a GBA mutation, it may increase his or her risk of developing Parkinson's disease. These mutations can cause certain proteins in the body to not function properly, which in turn can promote the development of Parkinson's disease.

It is important to note that not everyone with GBA mutations will necessarily develop Parkinson's, and Parkinson's also has other causes.

Now the effects of GBA mutations on the long-term outcome of deep brain stimulation in Parkinson's disease have been examined in a study with 296 participants. It was found that patients with GBA variants became ill at a younger age, had a shorter duration of illness before deep brain stimulation and had more frequent dyskinesias. After 3 to 5 Years ago, both groups showed improvement in motor symptoms and satisfactory control of fluctuations and dyskinesias. Non-motor symptoms were comparable, except for cognition, which deteriorated more rapidly in GBA Parkinson's patients. Analysis by the exact GBA mutation type is ongoing, but preliminary data suggests that GBA Parkinson's patients benefit from deep brain stimulation just as much as patients without GBA variants.

For a better understanding, we have summarized the study data for you in a table:

Jurgen Zender, Munich, in September 2023