Related Experiment Video
Updated: Aug 22, 2025

Corneal Confocal Microscopy: A Novel Non-invasive Technique to Quantify Small Fibre Pathology in Peripheral Neuropathies
Published on: January 3, 2011
[Peripheral Neuropathy in RFC1 CANVAS/Spectrum Disorders]
1Department of Neurology, Tokushima University Graduate School of Biomedical Sciences.
Abstract:
Recently, the biallelic expansion of an AAGGG repeat in RFC1 was reported as a cause of cerebellar ataxia with neuropathy and vestibular areflexia syndrome. This mutation has also been reported in more selected nervous disorders, including pure sensory axonal polyneuropathy. Thus, the multisystem disorders caused by this mutation are now considered RFC1-related spectrum disorders. Here, we review the previous reports about RFC1-related spectrum disorders from the aspect of neuropathy.
Related Concept Videos
Peripheral Arterial Disease II: Clinical Manifestations and Diagnostic Evaluation
Autism Spectrum Disorder
These core symptoms manifest differently among individuals, ranging from mild to severe. The disorder's complexity extends beyond its clinical presentation, encompassing a diverse range of biological, cognitive, and sociocultural influences.
Peripheral Artery Disease I: Introduction
Local Anesthetics: Differential Sensitivity of Nerve Fibers

