Pathogenic variants in ATP8A2 have been associated with congenital disorders characterized by ataxia associated or not with other clinical features. The most consensually established phenotype is the cerebellar ataxia, mental retardation and disequilibrium (CAMRQ) syndrome type 4. Clinical diagnosis together with a pathogenic variant in the ATP8A2 gene confirm the diagnosis of CAMRQ. It is transmitted in an autosomal recessive manner and is considered a rare disease, with an estimated prevalence <1/1.000.000.
ATP8A2