In 2016, two affected cases in one family from China with compound heterozygous variants, c.3190 G>T (p. E1064*) and c.4883 C>G (p. S1628*) of the SETX gene were identified, and both patients had early onset of unsteady gait, dysarthria, sensorimotor neuropathy, elevated serum AFP level and cerebellar atrophy (Lu et al., 2016). Here, SETX is linked to Cerebellar atrophy.