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

• DOI: 10.14802/jmd.23074
• Publication Date: 2023-06-13T06:23:18Z
• Authors: Ellen Hertz; Grisel Lopez; Jens Lichtenberg; Dietrich Haubenbe...; Nahid Tayebi; Mark Hallett; Ellen Sidransky
• Keywords: 0301 basic medicine; 03 medical and health sciences; Case Report

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