Katerina Bernardi, Deyana Valcheva, Rene Marquez Franco, Michael T Barbe, Jochen Wirths, Anne Koy, Moritz Thiel
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引用次数: 0
Abstract
Background: Juvenile DNAJC6-associated Parkinson's disease is a rare cause of early-onset parkinsonism with limited treatment data.
Case report: We describe a 15-year-old female with a novel DNAJC6 variant presenting with progressive tremor, bradykinesia, and postural instability. Although initially responsive to levodopa, she developed severe medication-induced motor fluctuations refractory to multiple pharmacological therapies. Due to disabling tremor, bilateral globus pallidus internus deep brain stimulation (GPi-DBS) was performed, resulting in marked and sustained tremor reduction.
Discussion: This case highlights the severe course of DNAJC6-associated juvenile parkinsonism and supports GPi-DBS as an effective option for refractory tremor.
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