Prevalence of repeats in the RFC1 gene in people with undiagnosed ataxia

Takeaway

  • Biallelic pathogenic repeat expansion in RFC1 gene was observed in 3.2% of people living in North America with undiagnosed ataxia, and testing should be strongly considered in patients with ataxia.

Why this matters

    Many people with ataxia remain undiagnosed, despite advanced genetic testing. New sequences associated with ataxia can lead to earlier detection.