Brain Networks in Dystonia
Massachusetts Eye and Ear Infirmary
Summary
To date, there is only limited knowledge about the distinct neural abnormalities that lead to the development of different forms of focal dystonia. The goal of this study is to dissect the pathophysiological mechanisms underlying this clinical phenomenon using multi-level brain network analysis in patients with focal dystonia.
Description
Among the many causes of craniofacial disease are focal dystonias such as blepharospasm (BSP) and oromandibular dystonia (OMD), affecting the eyes and jaw, respectively, as well as Meige Syndrome, which combines features of both. Craniofacial dystonias are poorly understood and have limited treatment options. The investigators hypothesize that craniofacial dystonia (CFD) may be caused by both rare and common genetic variants. To identify neural correlates of different genetic causes of CFD, the investigators will perform structural and functional whole-brain imaging and examine the organizatio…
Eligibility
- Age range
- 21–80 years
- Sex
- All
- Healthy volunteers
- Yes
Inclusion Criteria: * Patients will have clinically documented focal dystonia * Unaffected relatives of patients with focal dystonia * Healthy controls will be healthy volunteers with a negative history of neurological, laryngeal or psychiatric problems * Age from 21 to 80 years. * Native English speakers. * Right-handedness (based on Edinburgh Handedness Inventory). Exclusion Criteria: * Subjects who are incapable of giving an informed consent. * Pregnant or breastfeeding women until a time when they are no longer pregnant or breastfeeding. All women of childbearing potential will have a u…
Interventions
- OtherMRI
Functional and structural MRI of the brain will be conducted to identify disorder specific neural markers
- ProcedureBlood draw
Blood samples will be collected, the DNA will be extracted and banked for genetic studies
Location
- Massachusetts Eye and EarBoston, Massachusetts