Clinical trial NCT00763191: Analysis of Oculo-motor Deficiencies Associated With FMR1 Gene Expression (Genetic Abnormality Predisposing to a Neurodegenerative Disease)
Official title: Analysis of Oculo-motor Deficiencies Associated With FMR1 Gene Expression (Genetic Abnormality Predisposing to a Neurodegenerative Disease)
Study type: INTERVENTIONAL
Overall status: TERMINATED
Phase: NA
Conditions: Pre-mutation on FMR1 Gene
Lead sponsor: Nantes University Hospital
Sponsor class: OTHER
First posted: 2008-09-30
Enrollment: 27
Sex: MALE
Minimum age (years): 18
Maximum age (years): 50
Standard ages: ADULT
Accepts healthy volunteers: no
Allocation: NON_RANDOMIZED
Intervention model: SINGLE_GROUP
Primary purpose: HEALTH_SERVICES_RESEARCH

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).

Eligibility 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

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

Primary outcomes:
measure: Comparison of the oculo-motricity of patients with FMR1 pre-mutation with the oculo-motricity of patients without FMR1 pre-mutation
Secondary outcomes:
measure: Comparison of the oculo-motricity of patients with FMR1 pre-mutation with the oculo-motricity of patients with multi-systematized atrophy
measure: Analysis of the correlation between the genotype (number of CGG repetition) and the phenotype.
measure: For subjects with FMR1 pre-mutation, comparison of the neuro-psychological test results to the oculo-motor abnormalities.
Other outcomes:
Locations:
city: Nantes
country: France
facility: Laennec hospital, university hospital of Nantes
Study officials:
References: