FXN and cerebellar ataxia: After excluding FRDA, polyglutamine-related spinocerebellar ataxias, and duplication/deletion in the PMP22 gene, we proceeded with whole exome sequencing, which detected the pathogenic homozygous mutation c.2860C > T (pArg954*, R954X) in SH3TC2. This is the most common CMT4C mutation reported to date [1, 2, 8].