Dystonia Genotype-Phenotype Correlation: A Study to Identify Additional Genetic Associations That Contribute to Specific Dystonic Phenotypes
University of Texas Southwestern Medical Center
Summary
The purpose of this study is to (1) investigate the effect of known dystonia-causing mutations on brain structure and function, to (2) identify structural brain changes that differ between clinical phenotypes of dystonia, and to (3) collect DNA, detailed family history, and clinical phenotypes from patients with idiopathic dystonia with the goal of identifying new dystonia-related genes. Investigators will be recruiting both healthy control subjects and subjects with any form of dystonia. For this study there will be a maximum of two study visit involving a clinical assessment, collection of medical and family history, task training session, an MRI using the learned tasks, and finally a blood draw for genetic analysis. In total, these visits will take 3-5 hours. If the dystonia subjects receive botulinum toxin injections for treatment, the participants and their matched controls will be asked to come for a second visit.
Description
1. Identify a cohort of individuals with known dystonia-related gene mutations, and individuals with idiopathic but presumed-genetic dystonia. Some of these individuals may receive botulinum toxin injections to treat their dystonia per standard of care; in these patients, investigators will image before and after injections to assess for imaging correlates of treatment response. 2. Analyze DNA samples from both the dystonia and healthy individual cohorts to detect the presence of mutations and/or polymorphisms in genes associated with dystonia 3. Collect systematic clinical information, includ…
Eligibility
- Age range
- 11+ years
- Sex
- All
- Healthy volunteers
- Yes
General Exclusion (both Dystonia and Control groups): * Metal in any part of the body (including metal injury to the eye) OR carrying a medical device incompatible with MRI (e.g., metal implants such as surgical clips or pacemakers) OR positive screening per UTSW MRI screening form * Claustrophobia * Non-fluent English * Weight incompatible with MRI safety * History of head trauma with neurological sequelae, including multiple concussions and/or history of stroke * Pregnancy * Serious medical illness or history of serious medical illness, including cancer that was treated with radiation or ch…
Interventions
- OtherMagnetic Resonance Imaging
Study interventions are minimal risk.
Location
- University of Texas Southwestern Medical CenterDallas, Texas