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Updated: Jun 22, 2026
10:41
Implantation of Osmotic Pumps and Induction of Stress to Establish a Symptomatic, Pharmacological Mouse Model for DYT/PARK-ATP1A3 Dystonia
Published on: September 12, 2020
What's new in dystonia?
Vicki Shanker1, Susan B Bressman
1Beth Israel Medical Center, Albert Einstein College of Medicine, New York, NY 10003, USA. vshanker@chpnet.org
Current Neurology and Neuroscience Reports
|June 12, 2009
Summary
Recent dystonia research reveals new insights into brain circuitry and genetics, including the DYT6 gene (THAP1). Deep brain stimulation shows promise for generalized and cervical dystonia.
Area of Science:
- Neurology
- Genetics
- Neurosurgery
Background:
- Dystonia research has advanced, implicating brain circuitry beyond the basal ganglia.
- Understanding dystonia's pathophysiology is evolving with new discoveries.
Purpose of the Study:
- To review recent findings in basic science and clinical research on dystonia.
- To highlight advances in understanding dystonia's causes and treatments.
Main Methods:
- Review of recent scientific literature and clinical reports on dystonia.
- Analysis of genetic discoveries and outcomes of deep brain stimulation.
Main Results:
- Identification of a genetic modifier for DYT1 dystonia and the DYT6 gene (THAP1).
- Expanded clinical descriptions of dystonia and associated symptoms.
- Positive outcomes from deep brain stimulation (DBS) targeting the globus pallidus internus.
Conclusions:
- Dystonia's pathophysiology involves circuitry outside the basal ganglia.
- Genetic research has identified key genes like THAP1.
- Deep brain stimulation is an effective treatment for various dystonia forms, including medically refractory cervical dystonia.
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