Background: The syndrome defined by cerebellar ataxia, neuropathy and vestibular areflexia (CANVAS) was previously described as a cause of late-onset ataxia. With the discovery of biallelic expansion in the RFC1 gene as its underlying genetic cause, CANVAS and the broader RFC1-disease became more clinically heterogeneous and one of adult’s most common genetic cause of ataxia. Methods: Retrospective cohort comprising patients with a genetic diagnosis of CANVAS. Data related to neurological examination, video Head Impulse Test (VHIT), caloric tests, posturography, electromyography/nerve conduction studies and brain magnetic resonance imaging (MRI) were considered. Results: We included 15 patients, with a current mean age of 65.8±12.8 years. Ten (66.6%) patients presented with the complete clinical triad. At neurological examination, 13 patients showed signs of peripheral neuropathy. Cerebellar dysfunction was observed in 12 patients, whereas postural instability was seen in 11 patients. Electromyography/nervous conduction studies revealed peripheral neuropathy in all of the cases. Bilateral vestibular dysfunction was confirmed in approximately one-half of the patients. Mean balance values from the posturography were decreased in the majority (n=14). In the imaging assessment (n=11), 6 patients displayed significant vermian atrophy, predominantly in the anterior/dorsal regions, while the other 5 patients showed moderate atrophy. Conclusions: With the discovery of the genetic cause of CANVAS, it was possible to identify many patients in the absence of the classic triad. Detailed characterization/phenotyping through clinic and multimodal integration if the complementary diagnostic tests, allows a better understanding of the entire spectrum of RCF1-related disorder.