April 19, 2022

Long-Term Outcomes of Deep Brain Stimulation for Pediatric Dystonia

Deep brain stimulation (DBS) has been a treatment for medication-refractory dystonia in children for over 20 years, showing short-term benefits in inherited, isolated, and idiopathic cases. A review of long-term outcomes, spanning 5 or more years post-DBS in patients under 21, reveals sustained motor improvement, with median Burke-Fahn-Marsden scores improving from 2.5% to 93.2% across dystonia subtypes. Most implants targeted the globus pallidus internus, with an average follow-up of 8.5 years. While data on neuropsychiatric outcomes and adverse events is limited, quality of life improvements persist without significant cognitive or psychiatric issues, though hardware-related complications remain a concern.
September 4, 2020

Mutant Allele-Specific CRISPR Disruption in DYT1 Dystonia Fibroblasts Restores Cell Function

Most individuals affected with DYT1 dystonia have a heterozygous 3-bp deletion in the TOR1A gene (c.907_909delGAG). The mutation appears to act through a dominant-negative mechanism compromising normal torsinA […]
March 23, 2020

TorsinB overexpression prevents abnormaltwisting in DYT1 dystonia mouse models

In DYT1 dystonia, caused by a TOR1A mutation, torsinB levels influence disease severity. In DYT1 mouse models, lowering torsinB worsens movements and neurodegeneration, while raising it rescues these deficits, suggesting torsinB augmentation could delay symptoms.
October 13, 2019

Novel Therapy Development for Dystonia

Dystonia is a movement disorder characterized by involuntary repetitive, sustained muscle contractions, or postures. About 300,000 to 500,000 individuals, including military and veteran populations, suffer from […]
August 31, 2017

New Imaging Technique Could Aid in Testing of New Drugs for Dystonia

GAINESVILLE, Fla. — A new study led by University of Florida neuroscientists furthers the scientific understanding about the brain regions involved with causing dystonia, a poorly […]
December 8, 2016

Research at Duke

Duke researchers develop new cell-based drug screening test for dystonia Published on December 8, 2016 Duke University researchers have identified a common mechanism underlying separate forms of dystonia, a family of brain disorders that cause involuntary, debilitating and often painful movements, including twists and turns of different parts of the body.