AFP and Cerebellar atrophy: 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).