RFC1 and aceruloplasminemia: When ACC and CANVAS are deconstructed into their constituent and frequently associated features (cerebellar ataxia, neuropathy, vestibulopathy, cough, and autonomic dysfunction14), analysis of the combinations of these single features in the 52 RFC1-positive patients from the deep-phenotyping cohort A shows that ACC and CANVAS do not occur as strictly delineated syndromic entities but rather as phenotypic clusters along a continuum of variable phenotypic combinations (figure 3).