Analysis of Oculo-motor Deficiencies Associated With FMR1 Gene Expression (Genetic Abnormality Predisposing to a Neurodegenerative Disease)

Study Overview
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Brief Summary
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The specific aim of this study is to compare ocular movements abnormalities between males with pre-mutation on FRM1 gene (symptomatic or asymptomatic on the motor plan and/or on the cognitive plan), males without the pre-mutation and males with multi-systematized atrophy, in order to identify the neuronal structures implicated in this pathology.

Detailed Description
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Patient will be followed at the Nantes hospital during half a day for : examination of ocular movements performing Neuro-psychological test (MATTIS) performing tests with scales of motricity (UPDRS, CRST, ICARS).

Official Title
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Analysis of Oculo-motor Deficiencies Associated With FMR1 Gene Expression (Genetic Abnormality Predisposing to a Neurodegenerative Disease)

Conditions
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Pre-mutation on FMR1 Gene

Intervention / Treatment
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* Other: examination of ocular movements
* Other: MATTIS test
* Other: UPDRS test
* Other: CRST test


Participation Criteria
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Eligibility Criteria
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FOR PATIENTS WITH PREMUTATION ON FMR1 GENE (30 patients expected): Inclusion criteria: Male > or equal to 50 years old Ally second or third degree with a child affected of fragile X Not living far from Nantes so that visits to the Nantes hospital can be easy Pre-mutation on FMR1 gene Signed informed consent Exclusion criteria: Female <50 years old visual acuteness < 1/10 MATTIS dementia scale <100 (normal:144) Occurrence, shown by MRI (Magnetic Resonance Imaging), of a pathology either ischemic vascular or hemorrhagic or tumoral FOR PATIENTS WITHOUT PRE-MUTATION ON FMR1 GENE (10 patients expected): Inclusion criteria: Male > or equal to 50 years old Ally second or third degree with a child affected of fragile X Not living far from Nantes so that visits to the Nantes hospital can be easy - Signed informed consent Exclusion criteria: Female <50 years old visual acuteness < 1/10 MATTIS dementia scale <100 (normal:144) Pre-mutation on FMR1 gene Occurrence, shown by MRI, of a pathology either ischemic vascular or hemorrhagic or tumoral FOR PATIENTS WITH MULTI-SYSTEMATIZED ATROPHY (10 patients expected): Inclusion criteria: Male > or equal to 50 years old Not living far from Nantes so that visits to the Nantes hospital can be easy probable diagnosis of multi-systematized atrophy Signed informed consent Exclusion Criteria: Female <50 years old visual acuteness < 1/10 MATTIS dementia scale <100 (normal:144) Occurrence, shown by MRI, of a pathology either ischemic vascular or hemorrhagic or tumoral

Ages Eligible for Study
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Minimum Age: 18 Years
Maximum Age: 50 Years

Sexes Eligible for Study
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Male

Accepts Healthy Volunteers
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No

Study Plan
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How is the study designed?
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Design Details

Primary Purpose: Health Services Research
Allocation: Non-Randomized
Intervention Model: Single Group Assignment
Masking: None (Open Label)


Arms and Interventions

| Intervention/Treatment |
| --- |
|Other: examination of ocular movements|nan|
|Other: MATTIS test|nan|
|Other: UPDRS test|nan|
|Other: CRST test|nan|

What is the study measuring?
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Primary Outcome Measures

| Outcome Measure | Measure Description | Time Frame |
| --- | --- | --- |
| Comparison of the oculo-motricity of patients with FMR1 pre-mutation with the oculo-motricity of patients without FMR1 pre-mutation |  |  | 

Secondary Outcome Measures

| Outcome Measure | Measure Description | Time Frame |
| --- | --- | --- |
| Comparison of the oculo-motricity of patients with FMR1 pre-mutation with the oculo-motricity of patients with multi-systematized atrophy |  |  | 
| Analysis of the correlation between the genotype (number of CGG repetition) and the phenotype. |  |  | 
| For subjects with FMR1 pre-mutation, comparison of the neuro-psychological test results to the oculo-motor abnormalities. |  |  |