Prevalence of RFC1-Mediated Spinocerebellar Ataxia in a United States Ataxia Cohort
Dona Aboud Syriani, Darice Y. Wong, Sameer Andani, Claudio M. de Gusmão, Yuanming Mao, May Sanyoura, Giacomo L Glotzer, Paul J. Lockhart, Sharon Hassin‐Baer, Vikram Khurana, Christopher Manuel Gomez, Susan Perlman, Soma Das, Brent L. Fogel
The paper evaluates the prevalence of RFC1 and DAB1 repeat expansions in an undiagnosed ataxia cohort, finding biallelic RFC1 expansions in 2.7% of patients.
Neurology Genetics · May 20, 2020Peer-reviewedGenetics