DYT11, Myoclonus-Dystonia
Conditions
Brief summary
Background: Myoclonus dystonia (DYT-SGCE) is characterized by myoclonus and dystonia. Such condition is associated with a high prevalence of psychiatric symptoms which are part of the phenotype. The mechanisms underlying these non-motor symptoms are still poorly understood. Objective: To investigate the neural correlates of cognition and emotion in DYT-SGCE. Design: Participants will have 1 - 2 visits at the clinical center. The total participation time is less than 24 hours. Participants will have a medical interview and a neurological exam. They may give a urine sample before MRI. Participants will have a short neuropsychologic and psychiatric interviews. Participants will have MRI scans. They will do small tasks or be asked to imagine things during the scanning.
Detailed description
Eligibility: DYT-SGCE patients and healthy volunteers (HV) between 15 and 60 years old.
Interventions
None listed
Sponsors
Study design
Eligibility
Inclusion criteria
For all participants: * Age between 15-60 years * Able to give informed consent. For patients: * An established diagnostic of DYT-SGCE * No change in medication (related to DYT-SGCE) for a month For controls: * No neurological symptoms * No medication except oral contraception
Exclusion criteria
* No deprivation of liberty * Inability to give a consent * Established cognitive alteration * Contraindication to MRI (per MRI safety checklist) * Severe chronic psychiatric illness
Design outcomes
Primary
| Measure | Time frame | Description |
|---|---|---|
| BOLD signal derived from the functional magnetic resonance imaging | 46 month | Explore the differences in DYT-SGCE compared to HV |
Countries
France
Contacts
Department of neurology, Pitié-Salpêtrière Hospital, Paris