Study of a Large Family With Congenital Mirror Movements : From Underlying Pathophysiology to Culprit Gene Identification PROJET  MOMIC 

Study Overview
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Brief Summary
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Mirror movements are involuntary, symmetrical and simultaneous movements occurring on one side of the body that accompany controlateral voluntary movements. Congenital mirror movements (CMM) are characterized by childhood onset and the absence of additional manifestations. The aim of this study is to unravel the pathophysiology of the CMM that remains poorly elucidated. The combination of imaging studies and neurophysiological studies using transcranial magnetic stimulation in a homogeneous and relatively large group of patient is likely to allow us to better understand the underlying pathophysiology of the disorder. Using a linkage analysis approach we will try to identify a locus associated with CMM and related candidate genes.

Official Title
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Study of a Large Family With Congenital Mirror Movements : From Underlying Pathophysiology to Culprit Gene Identification : MOMIC

Conditions
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Healthy

Intervention / Treatment
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* Other: healthy volunteers
* Other: Kallmann
* Other: Congenital Mirror Movement


Participation Criteria
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Eligibility Criteria
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Inclusion Criteria: Patients aged from 11 to 82 years Members of the family of interest displaying mirror movements or being obligatory asymptomatic carrier, without additional manifestation or malformation; or patient with genetically proven Kallmann syndrome and mirror movements. No contraindication for MRI or TMS study Exclusion Criteria: inability to provide an informed consent Simultaneous participation in another clinical trial Treatment that modulate cortical excitability (for the TMS part of the study only)

Ages Eligible for Study
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Minimum Age: 11 Years
Maximum Age: 82 Years

Sexes Eligible for Study
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All

Accepts Healthy Volunteers
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Accepts Healthy Volunteers

Study Plan
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How is the study designed?
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Design Details

Primary Purpose: Basic Science
Allocation: Non-Randomized
Intervention Model: Parallel Assignment
Masking: None (Open Label)


Arms and Interventions

| Participant Group/Arm | Intervention/Treatment |
| --- | --- |
| Other: healthy volunteers<br>healthy volunteers | Other: healthy volunteers<br>* morphological and functional brain MRI; transcranial magnetic stimulation<br>|
| Other: Kallmann<br>Kallmann syndrome patients | Other: Kallmann<br>* morphological and functional brain MRI; transcranial magnetic stimulation<br>|
| Other: Congenital Mirror Movement<br>patients with CMM | Other: Congenital Mirror Movement<br>* morphological and functional brain MRI; transcranial magnetic stimulation<br>|

What is the study measuring?
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Primary Outcome Measures

| Outcome Measure | Measure Description | Time Frame |
| --- | --- | --- |
| - To unravel the pathophysiology of congenital mirror movements - To identify a locus and candidate genes associated with CMM |  | 08/2011 | 

Secondary Outcome Measures

| Outcome Measure | Measure Description | Time Frame |
| --- | --- | --- |
| - To study patients with Kallmann syndrome and associated MM based on the same methods and hypothesis |  | 08/2011 | 

 Terms related to the study
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Keywords Provided by Centre Hospitalier Valida
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Congenital mirror movement, physiopathology, imaging, transcranial magnetic stimulation, candidate gene