We performed follow-up EHDN locus analysis of these individuals, detecting CAG expansions in TCF4 (associated with Fuchs’ endothelial corneal dystrophy type 3 (FECD3)), an intronic CAG expansion in the CA10 gene, and an apparent heterozygous expansion at the locus associated with spinocerebellar ataxia type 1 (SCA1) in ATXN1. The finding of a SCA1 expansion was not supported by confirmatory targeted-locus analysis using ExpansionHunter26. Here, TCF4 is linked to spinocerebellar ataxia type 1.