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

Nantes University Hospital (NUH)

Status

Terminated

Conditions

Pre-mutation on FMR1 Gene

Treatments

Other: CRST test

Other: UPDRS test

Other: MATTIS test

Other: examination of ocular movements

Study type

Interventional

Funder types

Other

Identifiers

NCT00763191

07/10-Z

Details and patient eligibility

About

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.

Full 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).

Enrollment

27 patients

Sex

Male

Ages

18 to 50 years old

Volunteers

No Healthy Volunteers

Inclusion and exclusion 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