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The Successful Three‐Year Outcome of Deep Brain Stimulation in Gaucher Disease Type 1 Associated Parkinson's Disease: A Case Report

Gaucher’s disease type 1 (GD1) is an autosomal recessive disease caused by mutations in the glucocerebrosidase (GBA) gene. Both homozygote and heterozygote mutation carriers in the GBA gene have an increased risk of developing Parkinson’s disease (PD). Around 4% of patients with GD1 fulfill the diagnostic criteria for PD, and nearly 21% develop some form of parkinsonian symptoms during the disease course. The neurological manifestations of the disease often progress rapidly, depending on the age of onset with the disease showing a tendency to reach an advanced stage early. Enzyme replacement therapy and substrate reduction therapy have not been shown to be effective as they do not reach the central nervous system. The clinical standard of care for treating advanced PD is deep brain stimulation. To the best of our knowledge, only two cases of DBS treatment of PD in GD1 have been reported so far, both of which demonstrate successful and sustained results.