2012). One individual had two variants in the TPP1 gene, namely a splice and a missense in exon 10. The same splice but different missense (exon 11) combination has been reported to cause spinocerebellar ataxia in a Dutch family (Sun et al. 2013). Another individual had two missense variants in the AARS gene occurring in the aminoacylation and tRNA recognition domain. Variants in this gene have been associated with CMT (Bansagi et al. 2015) and infantile encephalopathy (Simons et al. 2015) (Table S3). Here, TPP1 is linked to cerebellar ataxia.