Evaluation of the Diagnostic Value of Video-oculography in CANVAS Neuronopathies

Study Results

Results pending

The study team has not published outcome measurements, participant flow, or safety data for this trial yet. Check back later for updates.

Basic Information

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Recruitment Status

COMPLETED

Total Enrollment

56 participants

Study Classification

OBSERVATIONAL

Study Start Date

2022-03-15

Study Completion Date

2023-03-15

Brief Summary

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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).

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Detailed Description

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Conditions

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Cerebellar Ataxia

Study Design

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Observational Model Type

COHORT

Study Time Perspective

RETROSPECTIVE

Study Groups

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Patients with CANVAS with genetic confirmation

Patients with CANVAS with genetic confirmation (RFC1 gene mutation)

None, pure observationnal study

Intervention Type OTHER

None, pure observationnal study

others patients

Patients with axonal neuropathy, autoimmune neuronopathy and anti-MAG neuropathy

None, pure observationnal study

Intervention Type OTHER

None, pure observationnal study

Healthy controls

Patients without CANVAS or other neuropathy

None, pure observationnal study

Intervention Type OTHER

None, pure observationnal study

Interventions

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None, pure observationnal study

Intervention Type OTHER

Eligibility Criteria

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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

Minimum Eligible Age

18 Years

Eligible Sex

ALL

Accepts Healthy Volunteers

No