Parents

The cerebellar syndrome caused by mutations in the ATP2B3 gene (SCAX1; OMIM #302500) affects only male children and is generally transmitted by healthy mothers, carriers of the mutation. The disease is characterized by neonatal-onset muscle weakness, slow eye movements, delay in walking and motor development, followed by the appearance of uncoordinated gait (ataxia) in the first years of life. Cognitive abilities and generally normal. Brain neuroimaging shows a small cerebellum (cerebellar atrophy).