Aim: The syndrome of cerebellar ataxia with bilateral vestibulopathy was delineated in 2004. Sensory neuropathy was mentioned in 3 of the 4 patients described. We aimed to characterize and estimate the frequency of neuropathy in this condition, and determine its typical MRI features.
Methods: Retrospective review of 18 subjects (including 4 from the original description) who met the criteria for bilateral vestibulopathy with cerebellar ataxia.
Results: The reported age of onset range was 39-71, and symptom duration was 3-38 years. The syndrome was identified in one sibling pair, suggesting that this may be a late-onset recessive disorder, although the other 16 cases were apparently sporadic. All 18 had sensory neuropathy with absent sensory nerve action potentials, although this was not apparent clinically in two, and the presence of neuropathy was not a selection criterion. In 5, the loss of pin-prick sensation was virtually global, mimicking a neuronopathy. However, findings in the other 11 with clinically manifest neuropathy suggested a length-dependent neuropathy. MRI scans showed cerebellar atrophy in 16, involving anterior and dorsal vermis, and hemispheric crus I, while two were normal. The inferior vermis and brainstem were spared.
Conclusions: Sensory neuropathy is an integral component of this syndrome. It may result in severe sensory loss, which contributes significanctly to the disability. The MRI changes are not specific, but, coupled with loss of sensory nerve action potentials, may aid diagnosis. We propose a new name for the condition, - CANVAS (Cerebellar Ataxia Neuropathy Vestibular Areflexia Syndrome).