Figure 3. Continuous Spectrum of Variable Feature Combinations in RFC1 Disease.

Prevalence of key features of replication factor complex subunit 1 (RFC1) disease and their within-participant combinations in 52 RFC1-positive patients (all from cohort A). Absolute number of patients with individual feature shown in circle sections. Lines represent relative co-occurrence of 2 features among RFC1-positive patients with reported presence or absence of both features. Within this combinatorial spectrum, the combination of ataxia with chronic cough and the triad of cerebellar ataxia, neuropathy, and vestibulopathy areflexia syndrome (CANVAS) represent just 2 instances of variable clusters along a continuous overlapping spectrum of RFC1 disease yet with a relatively increased associative strength.