Analysis of Oculo-motor Deficiencies Associated With FMR1 Gene Expression (Genetic Abnormality Predisposing to a Neurodegenerative Disease)
Not Applicable
Terminated
- Conditions
- Pre-mutation on FMR1 Gene
- Registration Number
- NCT00763191
- Lead Sponsor
- Nantes University Hospital
- 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).
Recruitment & Eligibility
- Status
- TERMINATED
- Sex
- Male
- Target Recruitment
- 27
Inclusion Criteria
Not provided
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
Study & Design
- Study Type
- INTERVENTIONAL
- Study Design
- SINGLE_GROUP
- Primary Outcome Measures
Name Time Method Comparison of the oculo-motricity of patients with FMR1 pre-mutation with the oculo-motricity of patients without FMR1 pre-mutation
- Secondary Outcome Measures
Name Time Method 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.
Trial Locations
- Locations (1)
Laennec hospital, university hospital of Nantes
🇫🇷Nantes, France