Massive pentanucleotide repeat expansions present in most ataxia syndromes

Takeaway

  • Massive pentanucleotide expansions (>500 repeats) in the RFC1 gene are found in many people with ataxias.

Why this matters

    Little is known about the etiology of late-onset cerebellar ataxia, neuropathy and vestibular areflexia syndrome, although its prevalence may be higher than currently recognized. These findings provide novel information about the role of repeat expansions in ataxias and could contribute to better understanding of how these genetic mutations cause these conditions.