SYNE1 and Ataxia: According to ACMG guidelines (29), the novel SYNE1 mutation (c.21568C>T) is categorized to be the disease “pathogenic variant” because it belongs to PVS1 (non-sense mutation and loss of function of SYNE1 has been validated to cause SYNE1 ataxia), PM2 (extremely low population frequency if recessive), PP1 (segregation with phenotype in family), and PP4 (phenotype of this patient coincide with previously reported SYNE1 related patients).