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 symptoms include poor balance and difficulty walking. Chronic cough and difficulty swallowing may also be present. Clinical findings include ataxia, sensory neuropathy, and absence of the vestibulo–ocular reflex. The syndrome was initially described in 2004. In 2019, the cause was identified as biallelic pentanucleotide expansion in the RFC1 gene.

Cerebellar ataxia with neuropathy and vestibular areflexia syndrome
Cerebellum and brainstem
Specialty	Neurology
Symptoms	Difficulty walking, poor coordination, decreased sensation, chronic cough, dysphagia.
Usual onset	40–60 years old
Duration	Chronic.
Causes	Genetic
Diagnostic method	Genetic testing.
Treatment	Supportive care, genetic counselling.
Frequency	Unknown

Treatment

Specific treatment is lacking. A multidisciplinary approach to supportive care is recommended.

Prognosis

The progression is typically slow, with 55% of patients needing mobility aids 10 years after onset, and 25% needing a wheelchair after 15 years.

Epidemiology

The prevalence of the disease is currently unknown, largely owing to its recent description and delineation from other forms of autosomal recessive cerebellar ataxia.