KMID : 1197720230160030321
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´ëÇÑÆÄŲ½¼º´ ¹× ÀÌ»ó¿îµ¿Áúȯ ÇÐȸÁö 2023 Volume.16 No. 3 p.321 ~ p.324
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Rapid-Onset Dystonia and Parkinsonism in a Patient With Gaucher Disease
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Ellen Hertz
Grisel Lopez Jens Lichtenberg Dietrich Haubenberger Nahid Tayebi Mark Hallett Ellen Sidransky
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Abstract
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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.
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KEYWORD
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Dystonia, Gaucher disease, GBA1, Parkinson disease, Rapid-onset dystonia-parkinsonism
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