obsolete cerebellar ataxia, neuropathy, and vestibular areflexia syndrome

Cerebellar ataxia, neuropathy, vestibular areflexia syndrome

Cerebellar ataxia with neuropathy and vestibular areflexia syndrome (CANVAS) is an autosomal recessive late-onset heredodegenerative multisystem neurological disease. The syndrome is named from the main symptoms: cerebellar ataxia (CA), neuropathy (N), vestibular areflexia syndrome (VAS). Individuals with CANVAS often present with poor balance, difficulty walking, chronic cough, and difficulty swallowing. In genetically confirmed cases, the average age of onset was approximately 52 years. While first described in 2004, a genetic basis was not found till 2019, when a biallelic pentanucleotide expansion in the RFC1 gene was found to be a cause of CANVAS.