Rapid-Onset Dystonia and Parkinsonism in a Patient With Gaucher Disease

Abstract

Biallelic mutations in <i>GBA1</i> cause the lysosomal storage disorder Gaucher disease, and carriers of <i>GBA1</i> variants have an increased risk of Parkinson’s disease (PD). It is still unknown whether <i>GBA1</i> variants are also associated with other movement disorders. We present the case of a woman with type 1 Gaucher disease who developed acute dystonia and parkinsonism at 35 years of age during a recombinant enzyme infusion treatment. She developed severe dystonia in all extremities and a bilateral pill-rolling tremor that did not respond to levodopa treatment. Despite the abrupt onset of symptoms, neither Sanger nor whole genome sequencing revealed pathogenic variants in ATP1A3 associated with rapid-onset dystonia-parkinsonism (RDP). Further examination showed hyposmia and presynaptic dopaminergic deficits in [18F]-DOPA PET, which are commonly seen in PD but not in RDP. This case extends the spectrum of movement disorders reported in patients with <i>GBA1</i> mutations, suggesting an intertwined phenotype.