Pre-mutation on FMR1 Gene
Conditions
Brief summary
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
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).
Interventions
OTHERexamination of ocular movements
OTHERMATTIS test
OTHERUPDRS test
OTHERCRST test
Sponsors
Nantes University Hospital
Study design
Allocation
NON_RANDOMIZED
Intervention model
SINGLE_GROUP
Primary purpose
HEALTH_SERVICES_RESEARCH
Masking
NONE
Eligibility
Sex/Gender
MALE
Age
18 Years to 50 Years
Healthy volunteers
No
Inclusion criteria
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
Design outcomes
Primary
| Measure | Time frame |
|---|---|
| Comparison of the oculo-motricity of patients with FMR1 pre-mutation with the oculo-motricity of patients without FMR1 pre-mutation | — |
Secondary
| Measure | 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. | — |
Countries
France
Outcome results
None listed