A multi-exon RFC1 deletion in a case of CANVAS: expanding the genetic mechanism of disease.

The document published in the Journal of Neurology discusses a case study of a 45-year-old male with Cerebellar ataxia, neuropathy, and vestibular areflexia syndrome (CANVAS). The patient presented with typical clinical features of CANVAS, including cognitive impairment, progressive imbalance, and sensory neuronopathy. Genetic analysis revealed a compound heterozygous copy number variant (CNV) and a pathogenic AAGGG(n) expansion in RFC1, expanding the understanding of the genetic mechanisms underlying CANVAS. The study highlights the importance of sequencing RFC1 in patients with a clinical diagnosis of CANVAS to identify potential genetic causes. [Extracted from the article]