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

Overview

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.

Study Type

  • Study Type: Interventional
  • Study Design
    • Allocation: Non-Randomized
    • Intervention Model: Single Group Assignment
    • Primary Purpose: Health Services Research
    • Masking: None (Open Label)
  • Study Primary Completion Date: September 2009

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

  • Other: examination of ocular movements
  • Other: MATTIS test
  • Other: UPDRS test
  • Other: CRST test

Clinical Trial Outcome Measures

Primary Measures

  • Comparison of the oculo-motricity of patients with FMR1 pre-mutation with the oculo-motricity of patients without FMR1 pre-mutation

Secondary Measures

  • 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.

Participating in This Clinical Trial

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

Gender Eligibility: Male

Minimum Age: 18 Years

Maximum Age: 50 Years

Are Healthy Volunteers Accepted: No

Investigator Details

  • Lead Sponsor
    • Nantes University Hospital
  • Provider of Information About this Clinical Study
    • Sponsor

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