Interactions Between Striatum and Cerebellum in ADCY5 and PRRT2 Dystonias

Study Results

Results pending

The study team has not published outcome measurements, participant flow, or safety data for this trial yet. Check back later for updates.

Basic Information

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Recruitment Status

COMPLETED

Clinical Phase

NA

Total Enrollment

104 participants

Study Classification

INTERVENTIONAL

Study Start Date

2018-08-06

Study Completion Date

2024-08-04

Brief Summary

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The investigators will study the relationship between the basal ganglia and the cerebellum in dystonia by associating cerebellar stimulations with functional magnetic resonance imaging analysis.

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Detailed Description

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Although dysfunctions in both basal ganglia and cerebellum in dystonia are well documented, the functional relationships between these two important motor control networks remains unclear in the context of dystonia. Here the investigators propose to tackle this issue by associating cerebellar stimulations with functional analysis using fMRI in dystonic patients.

The working hypothesis is that the primary torsion dystonia (PTD) pathophysiology involves dysfunction of striatum that is amplified by dysregulation of the cerebello-thalamo-striatal pathway.

The project is to study dystonia forms resulting primarily from dysfunctions of the striatum (patients with mutation of the ADCY5 gene) and compare them with patients with putative dysfunction of the cerebellum (patients with mutation of the PRRT2 gene) and healthy controls. In these patients, the investigators will look for (1) how cerebello-thalamo striatal pathway can be influenced by striatal dysfunctions and (2) whether cerebellar stimulation may prevent (or worsen?) the disrupted activity in the basal ganglia and (3) whether striatum-related dystonia share the same abnormal network with another form of dystonia resulting from another dysfunction (patients with PRRT2 mutation).

Conditions

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Dystonia

Study Design

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Allocation Method

NON_RANDOMIZED

Intervention Model

PARALLEL

Primary Study Purpose

BASIC_SCIENCE

Blinding Strategy

SINGLE

Participants

Participants will be blinded to the TMS procedure (SHAM or real stimulation).

Study Groups

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Sham cerebellar stimulation

Participants will receive a Sham stimulation (inefficient probe) applied over the cerebellum.

Group Type SHAM_COMPARATOR

transcranial magnetic stimulation of the cerebellum

Intervention Type OTHER

The intervention will consist in a continuous theta burst stimulation of the cerebellum under neuronavigation.

Real cerebellar stimulation

Participants will receive a real continuous theta burst stimulation (cTBS) applied over the cerebellum.

Group Type ACTIVE_COMPARATOR

transcranial magnetic stimulation of the cerebellum

Intervention Type OTHER

The intervention will consist in a continuous theta burst stimulation of the cerebellum under neuronavigation.

Interventions

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transcranial magnetic stimulation of the cerebellum

The intervention will consist in a continuous theta burst stimulation of the cerebellum under neuronavigation.

Intervention Type OTHER

Eligibility Criteria

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Inclusion Criteria

* clinical diagnosis of Dystonia
* characterized ADCY5 or PRRT2 mutation
* must have a European Social Security card or a parent having an European Social Security card
* must be older than \> 15 years 3 months
* must be able to give informed consent or, for minor patients, parents must be able to give informed consent
* must be able to comply with all study procedures, based on the judgment by the investigator(s).

Exclusion Criteria

* major depression or any major mental disorders (axis I disorders)
* neurologic disorder other than dystonia
* presence of pacemaker, intracardiac lines, implanted pumps or stimulators, or metal objects inside the eye or skull, cochlear implant
* Permanent makeup of lips or eyelids
* Black large tattoo close to the head
* Severe claustrophobia
* Current pregnancy or breast feeding
* Open scalp wounds or scalp infection,
* epilepsy or seizures
* Taking at the time of the study: ketamine, antidepressants, ganciclovir, ritonavir, amphetamines, antiemetic.

Minimum Eligible Age

15 Years

Maximum Eligible Age

60 Years

Eligible Sex

ALL

Accepts Healthy Volunteers

Yes