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| ID | Type | Description | Link |
|---|---|---|---|
| 2015-002891-25 | EudraCT Number |
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Dystonia is defined as a syndrome of sustained muscle contractions resulting in repetitive movements and abnormal postures. DYT1 is the most common form of genetic dystonia, but the link between genomic mutations and phenotypic expression remains largely unknown. Furthermore, secondary forms of dystonia have highlighted the role of the basal ganglia, particularly the putamen in the pathophysiology of the disease. Experimental results in a genetic model of dystonia in rodents suggest that cholinergic inter-neurons (ACh-I) of the putamen play a critical role in the pathological process of plasticity in the cortico-striatal synapse. However, these results have not been demonstrated in humans.
The purpose of this study is to demonstrate that the phenotype of dystonia is associated with the degree of striatal ACh-I alterations.
In this molecular imaging study, the investigators will directly test this hypothesis using a PET radiotracer of the vesicular acetylcholine transporter (VAT). Their goal is to explore the relationships between cholinergic dysfunction and clinical disease expression and the associated morphological and functional alterations. The experimental protocol will also include multimodal MRI, MRI diffusion tensor (to study the microscopic structure of white matter) and functional MRI of the resting state (to study the functional organization of cerebral cholinergic networks at rest).
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| Label | Type | Description | Intervention Names |
|---|---|---|---|
| Cholinergic striatal imaging | Experimental | Cholinergic striatal imaging (IRM and TEP) to compare the intensity of the binding of cholinergic tracer |
|
| Name | Type | Description | Arm Group Labels | Other Names |
|---|---|---|---|---|
| PET (Positron Emission Tomography) imaging | Radiation | Molecular imaging using a PET radiotracer of the vesicular acetylcholine transporter. |
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| Measure | Description | Time Frame |
|---|---|---|
| Binding potential | Image (PET) of the intensity of fixation of Cholinergic tracer (Binding potential) | Inclusion (V0) |
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Inclusion Criteria:
Exclusion Criteria:
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| Name | Affiliation | Role |
|---|---|---|
| FERNANDEZ Philippe | University Hospital, Bordeaux | Principal Investigator |
| BURBAUD Pierre | University of Bordeaux | Study Chair |
| Facility | Status | City | State | ZIP | Country | Contacts |
|---|---|---|---|---|---|---|
| CHU de Bordeaux | Bordeaux | 33076 | France |
| PubMed Identifier | Type | Citation | Retractions |
|---|---|---|---|
| 33638639 | Result | Mazere J, Dilharreguy B, Catheline G, Vidailhet M, Deffains M, Vimont D, Ribot B, Barse E, Cif L, Mazoyer B, Langbour N, Pisani A, Allard M, Lamare F, Guehl D, Fernandez P, Burbaud P. Striatal and cerebellar vesicular acetylcholine transporter expression is disrupted in human DYT1 dystonia. Brain. 2021 Apr 12;144(3):909-923. doi: 10.1093/brain/awaa465. |
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| ID | Term |
|---|---|
| D004421 | Dystonia |
| ID | Term |
|---|---|
| D020820 | Dyskinesias |
| D009461 | Neurologic Manifestations |
| D009422 | Nervous System Diseases |
| D012816 | Signs and Symptoms |
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| ID | Term |
|---|---|
| C062942 | 2-phenyl-6-(2'-(4'-(ethoxycarbonyl)thiazolyl))thiazolo(3,2-b)(1,2,4)triazole |
| D009682 | Magnetic Resonance Spectroscopy |
| D014965 | X-Rays |
| ID | Term |
|---|---|
| D013057 | Spectrum Analysis |
| D002623 | Chemistry Techniques, Analytical |
| D008919 | Investigative Techniques |
| D060733 | Electromagnetic Radiation |
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| MRI : Magnetic Resonance Imaging | Other | Multimodal MRI, MRI diffusion tensor (to study the microscopic structure of white matter) and functional MRI of the resting state (to study the functional organization of cerebral cholinergic networks at rest). |
|
| D013568 |
| Pathological Conditions, Signs and Symptoms |
| D055590 | Electromagnetic Phenomena |
| D060328 | Magnetic Phenomena |
| D055585 | Physical Phenomena |
| D011827 | Radiation |
| D011839 | Radiation, Ionizing |