Bilateral vestibulopathy as the initial presentation of CANVAS

Area of Science:

• Neuroscience
• Genetics
• Neurology

Background:

• Cerebellar ataxia with neuropathy and vestibular areflexia syndrome (CANVAS) is an autosomal recessive disorder caused by RFC1 gene repeat expansions.
• Diagnosis can be challenging when only one of the three core symptoms (ataxia, neuropathy, vestibular areflexia) is present.
• Isolated Bilateral Vestibulopathy (BVP) cases progressing to CANVAS have not been previously documented.

Observation:

• Four patients presented with chronic imbalance and Bilateral Vestibulopathy (BVP).
• Over several years, these patients developed cerebellar and neuropathic deficits.
• Genetic testing confirmed RFC1 repeat expansions in all reported cases.

Findings:

• The study identifies previously undocumented cases of isolated BVP progressing to CANVAS.
• Positive RFC1 genetic testing supports CANVAS in patients with initially isolated BVP.
• This suggests BVP can be an early or isolated manifestation of CANVAS.

Implications:

• CANVAS should be considered in patients with idiopathic Bilateral Vestibulopathy (BVP).
• This broadens the diagnostic criteria for CANVAS, especially in undiagnosed BVP cases.
• Early identification of CANVAS can potentially lead to better patient management and outcomes.