Case Reports Journal Article Epublish
PubMed: 42182522 DOI: 10.5334/tohm.1187
Pallidal Deep Brain Stimulation for Tremor Control in a Child with Juvenile DNAJC6-Associated Parkinsonism.
Tremor Other Hyperkinet Mov (N Y) 16:32
Authors: Katerina Bernardi, Deyana Valcheva, Rene Marquez Franco, Michael T Barbe, Jochen Wirths, Anne Koy, Moritz Thiel
Affiliations
- Movement Disorders Program, Department of Neurology & F.M. Kirby Neurobiology Center, Boston Children's Hospital, Harvard Medical School, Boston, MA 02115, USA.
- Department of Pediatrics, Faculty of Medicine and University Hospital Cologne, University of Cologne, Cologne, 50937, Germany.
- Department of Pediatrics, Pediatric Neurology, Sana Kliniken Duisburg, Germany.
- Department of Stereotactic and Functional Neurosurgery, Faculty of Medicine and University Hospital Cologne, University of Cologne, Cologne, Germany.
- Department of Neurology, Faculty of Medicine and University Hospital Cologne, University of Cologne, Cologne, Germany.
- Center for Rare Diseases, Faculty of Medicine and University Hospital Cologne, University of Cologne, Cologne, 50937, Germany.
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.
MeSH
Brain, Parkinsonian Disorders, Tremor, Deep Brain Stimulation, Therapeutics, Hyperkinesis, Child