Corrélats Neuronaux Des Accès de Mouvements Anormaux Paroxystiques Liées Aux Dyskinésies Paroxystiques kinésigéniques Secondaires à Une Mutation du Gene PRRT2 - Recherche Ancillaire de L'étude AMEDYST Dont Vous êtes l'Investigateur Principal
Status: Recruiting
Location: See location...
Intervention Type: Behavioral
Study Type: Interventional
Study Phase: Not Applicable
SUMMARY
The main objective of this study is to investigate in real-time the neuronal correlates of paroxysmal dyskinesia episodes related to the PRRT2 mutation within this subgroup of patients (who can control paroxysmal dyskinesia episodes), and more specifically, the pathological role of the reciprocal influence between the striatum and the cerebellum in paroxysmal dyskinesia episodes.
Eligibility
Participation Requirements
Sex: All
Minimum Age: 18
Maximum Age: 75
Healthy Volunteers: f
View:
• Male or female Individuals with dystonic disease carrying a PRRT2 mutation and demonstrating the ability to control paroxysmal dyskinesia episodes.
• Affiliated with a health insurance system or a beneficiary of such a system. Individuals aged 18 to 75 years. Signature of informed consent
Locations
Other Locations
France
Institut du Cerveau de la Moelle Epinière ICM, Hôpital Pitié Salpêtrière,
RECRUITING
Paris
Contact Information
Primary
Emmanuel Roze, MD, PhD
emmanuel.flamand-roze@psl.aphp.fr
+33142162748
Time Frame
Start Date: 2025-01-21
Estimated Completion Date: 2028-11
Participants
Target number of participants: 1
Treatments
Experimental: Patients
We will conduct a study using functional MRI and EEG in this subgroup of at least 1 patient(s) with a PRRT2 mutation capable of triggering paroxysmal dyskinesia episodes. We will analyze of the activation of regions involved in the occurrence of abnormal movements during the prodromal phase, during which the acquisition is not affected by movements. We will also investigate the regions involved in judging control over action during phases where abnormal movements may occur before and after the dyskinetic episode.~Thus, each subject will serve as their own control across different conditions of the experimental paradigm.
Related Therapeutic Areas
Sponsors
Leads: Institut National de la Santé Et de la Recherche Médicale, France