ArticleScientific reports2017
Deep brain stimulation for myoclonus-dystonia syndrome with double mutations in DYT1 and DYT11.
Article in Scientific reports, 2017. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Cited by 10 papers, 1 of them a synthesis that pooled it.
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Who cites it
10 citing papers in PubMed, 1 synthesis or guideline pooled it, 18 citations in OpenAlex.
- The Efficacy and Predictors of Using GPi-DBS to Treat Early-Onset Dystonia: An Individual Patient Analysis.Neural plasticity · 2021Pooled it
- Multitarget neurostimulation of the deep brain: clinical opportunities, challenges, and emerging technologies.Journal of neural engineering · 2025Review
- Beyond Pallidal or Subthalamic Deep Brain Stimulation to Treat Dystonia.Tremor and other hyperkinetic movements (New York, N.Y.) · 2024Review
- DBS in tremor with dystonia: VIM, GPi or both? A review of the literature and considerations from a single-center experience.Journal of neurology · 2023Review
- Deep Brain Stimulation for an Unusual Presentation of Myoclonus Dystonia Associated with Russell-Silver Syndrome.Tremor and other hyperkinetic movements (New York, N.Y.) · 2023Article
- Applicability of clinical genetic testing for deep brain stimulation treatment in monogenic Parkinson's disease and monogenic dystonia: a multidisciplinary team perspective.Frontiers in neuroscience · 2023Article
- Functional and Molecular Properties of DYT-SGCE Myoclonus-Dystonia Patient-Derived Striatal Medium Spiny Neurons.International journal of molecular sciences · 2021Article
- Pallidal Deep Brain Stimulation for Monogenic Dystonia: The Effect of Gene on Outcome.Frontiers in neurology · 2020Review
- Radiogenomic analysis of vascular endothelial growth factor in patients with diffuse gliomas.Cancer imaging : the official publication of the International Cancer Imaging Society · 2019Article
- Genetic Subtypes and Deep Brain Stimulation in Dystonia.Movement disorders clinical practiceArticle
Corrections and comments
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Authors and funding
5 authors at 1 institution in 1 country.
Funding
No grant is acknowledged in the PubMed record.
Abstract
Myoclonus-dystonia syndrome (MDS) is a rare autosomal dominant inherited disorder characterized by the presentation of both myoclonic jerks and dystonia. Evidence is emerging that deep brain stimulation (DBS) may be a promising treatment for MDS. However, there are no studies reporting the effects of DBS on MDS with double mutations in DYT1 and DYT11. Two refractory MDS patients with double mutations were treated between 2011 and 2015 in our center. Genetic testing for DYT1 and DYT11 was performed through polymerase chain reaction amplification and direct sequencing of the specific exons of genes. For the first patient, initial bilateral ventral intermediate thalamus nucleus (Vim) DBS was performed. Because of worsening dystonia after initial improvement in symptoms, subsequent bilateral globus pallidus internus (GPi) DBS was offered at 43 months after initial surgery, which reversed the deterioration and restored the motor function. For the second patient, initial improvement in motor symptoms and quality of life was sustained at the follow-up 6 months after bilateral Vim DBS treatment. Thus, DBS may be an effective therapeutic option for MDS, even in patients with double mutations. Moreover, GPi DBS may be used as a supplementary treatment when initial Vim DBS fails to control MDS symptoms.
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