A missense mutation located in a M domain of ATP8A2 is associated with cerebellar ataxia, mental retardation and dysequilibrium syndrome (CAMRQ), an autosomal recessive disorder characterized by dysarthric speech and cerebellar atrophy with or without quadrupedal gait (Onat et al., 2013). The gene discussed is ATP8A2; the disease is cerebellar ataxia.