This rare form of ataxia is caused by mutations in the ATP2B3 gene (SCAX1; OMIM #302500) is inherited as an X-linked recessive trait. It is characterized by: neonatal hypotonia, psychomotor delay, slow eye movements, followed by the appearance of a nonprogressive cerebellar ataxia in the first years of life. Cognitive development is normal. Neuroimaging can be initially normal but a global cerebellar atrophy is usually detected after the second year of life.
ATP2B3