Prevalence of RFC1-mediated spinocerebellar ataxia in a North American ataxia cohort.
Dona Aboud SyrianiDarice WongSameer AndaniClaudio M De GusmaoYuanming MaoMay SanyouraGiacomo GlotzerPaul J LockhartSharon Hassin-BaerVikram KhuranaChristopher M GomezSusan PerlmanSoma DasBrent L FogelPublished in: Neurology. Genetics (2020)
In a large undiagnosed ataxia cohort from North America, biallelic pathogenic repeat expansion in RFC1 was observed in 3.2%. Testing should be strongly considered in patients with ataxia, especially those with CANVAS or neuropathy.