To the Editor With great interest we read the article by Renaud et al1 reporting a case series of 9 patients with autosomal recessive cerebellar ataxia type 3 due to ANO10 mutations. The authors discussed the previously reported c.132dupA mutation with a heterozygote carrier frequency of 1/184 and postulated that the homozygote state of this mutation would either have a more severe phenotype or not be viable at all.
Minnerop M, Bauer P. Autosomal Recessive Cerebellar Ataxia 3 Due to Homozygote c.132dupA Mutation Within the ANO10 Gene. JAMA Neurol. 2015;72(2):238-239. doi:10.1001/jamaneurol.2014.3918