VOG-Neuropat: Evaluation of the Diagnostic Value of Video-oculography in CANVAS Neuronopathies
Study Details
Study Description
Brief Summary
Cerebellar ataxia syndrome with neuropathy and vestibular areflexia (CANVAS) is a genetic pathology of recent discovery (bi-allelic expansion in intron 1 of the RFC1 gene with AAGG repetition). The clinical picture is protean, associating a neuronopathy, a bilateral vestibulopathy evidenced by an alteration of the oculovestibular reflex (VOR), an atrophy of the cerebellum and a chronic cough.
In the initial stage of the disease the clinical picture is heterogeneous and often incomplete. Ataxia at the beginning of the disease may be the consequence of peripheral nervous system involvement (neuronopathy) and the cerebellar syndrome may manifest itself clinically late.
Eye movement involvement in central nervous system pathologies is common (4). Oculomotor abnormalities are often subclinical and sometimes exclusively identifiable by an instrumental study, video-oculography (VOG) (5).
VOG is a non-invasive examination of eye movements, which is increasingly used in the differential diagnosis of neurodegenerative syndromes (6). This examination allows, among other things, to identify oculomotor anomalies, even discrete and asymptomatic, by studying the combined movements of the eyes and the oculocephalic movements.
The study of oculomotricity by VOG can therefore potentially contribute to the early differential diagnosis of ataxiating neuropathies, including CANVAS, by revealing infra-clinical oculomotor abnormalities correlated with a cerebellar expectation (knowing the role of the dorsal vermis in the precision of saccades and pursuits).
| Condition or Disease | Intervention/Treatment | Phase |
|---|---|---|
|
Study Design
Arms and Interventions
| Arm | Intervention/Treatment |
|---|---|
| Patients with CANVAS with genetic confirmation Patients with CANVAS with genetic confirmation (RFC1 gene mutation) |
Other: None, pure observationnal study
None, pure observationnal study
|
| others patients Patients with axonal neuropathy, autoimmune neuronopathy and anti-MAG neuropathy |
Other: None, pure observationnal study
None, pure observationnal study
|
| Healthy controls Patients without CANVAS or other neuropathy |
Other: None, pure observationnal study
None, pure observationnal study
|
Outcome Measures
Primary Outcome Measures
- jerky pursuits [Baseline, Day 0]
Comparison of video oculography results (saccadic pursuits) of patients with a diagnosis of CANVAS with those of the other groups
- gaze evoked nystagmus [Baseline, Day 0]
Comparison of video oculography results (gaze evoked nystagmus) of patients with a diagnosis of CANVAS with those of the other groups
- down beat nystagmus [Baseline, Day 0]
Comparison of video oculography results (down beat nystagmus) of patients with a diagnosis of CANVAS with those of the other groups
- rebound nystagmus [Baseline, Day 0]
Comparison of video oculography results (rebound nystagmus) of patients with a diagnosis of CANVAS with those of the other groups
Eligibility Criteria
Criteria
Inclusion Criteria:
Patients followed at the University Hospital of Nîmes between 2018-2021
-
Age > 18 years
-
Patients with CANVAS with genetic confirmation (RFC1 gene mutation)
-
Patients with axonal neuropathy, autoimmune neuronopathy and anti-MAG neuropathy
-
Healthy controls
Contacts and Locations
Locations
| Site | City | State | Country | Postal Code | |
|---|---|---|---|---|---|
| 1 | CHU de Nîmes | Nîmes | Choisir Une Région | France | 30029 |
Sponsors and Collaborators
- Centre Hospitalier Universitaire de Nīmes
Investigators
- Study Director: Anissa MEGZARI, Centre Hospitalier Universitaire de Nīmes
Study Documents (Full-Text)
None provided.More Information
Publications
None provided.- Local/2022/II-02