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Case Report
Rapid-Onset Dystonia and Parkinsonism in a Patient With Gaucher Disease
Ellen Hertz, Grisel Lopez, Jens Lichtenberg, Dietrich Haubenberger, Nahid Tayebi, Mark Hallett, Ellen Sidransky
J Mov Disord. 2023;16(3):321-324.   Published online June 13, 2023
DOI: https://doi.org/10.14802/jmd.23074
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AbstractAbstract PDFSupplementary Material
Biallelic mutations in GBA1 cause the lysosomal storage disorder Gaucher disease, and carriers of GBA1 variants have an increased risk of Parkinson’s disease (PD). It is still unknown whether GBA1 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 GBA1 mutations, suggesting an intertwined phenotype.

Citations

Citations to this article as recorded by  
  • Phenotypic consequences of GBA1 pathological variant R463C (p.R502C)
    Emory Ryan, Samantha Nishimura, Grisel Lopez, Nahid Tayebi, Ellen Sidransky
    American Journal of Medical Genetics Part A.2024;[Epub]     CrossRef

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