Clinical and pathological characterization of RFC1 AAGGG expansion presenting as chronic axonal polyneuropathy

Abstract

Axonal sensorimotor neuropathy with a chronic, indolent course is a frequent occurrence in middle-aged and older adults, often in the absence of a definite diagnosis after thorough investigations. Cerebellar Ataxia, Neuropathy, Vestibular Areflexia Syndrome (CANVAS) is an ataxic disorder recently associated with Replication Factor C subunit 1 (RFC1) repeat expansion mutation, presenting as a slowly evolving sensory neuro(no)pathy at onset in many cases. We described clinical and pathological findings in RFC1-mutated patients identified in a biopsy-investigated Chronic Idiopathic Axonal Polyneuropathy (CIAP) population.