[MIM 614 575]

(acronym for Cerebellar Ataxia, Neuropathy and Vestibular Areflexia Syndrome)

Incidence: 5/1.106. Autosomal recessive transmission of a mutation of the RFC1 gene (4p14): it produces more than 400 repetitions of AAGGG instead of 10 to 200 AAAAG.

Typical clinical presentation: onset in adults over 50 years of age:

-        sensory neuropathy

-        ataxia: loss of balance, dysarthria with cerebellar atrophy (MRI)

-        total or partial bilateral loss of oculovestibular reflex (oscillopsia)

-        chronic dry cough, sometimes long before neurological signs appear

-        sometimes orthostatic hypotension.

In some cases, abnormalities are confined to the cerebellum, nervous system or vestibular apparatus.

Anesthetic implications: 

Risk of hypotension

References : 

-        Gökçay F1, Neşem Baskan G, Şahbaz I, Kovancılar Koç M, A. Başak AN, Celebisoy N.
Cerebellar ataxia, neuropathy and vestibular areflexia syndrome (CANVAS): a family with five affected sibs from Turkey.
BMC Neurology 2024 ; 24:356 doi.org/10.1186/s12883-024-03782-1

Updated: January 2025