This website provides information on patients with mutations in the ATP2B3 gene, including clinical data, molecular data, management and research options.
The syndrome caused by mutations in the ATP2B3 gene is an X-linked recessive neurodevelopmental disorder 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.
Not all individuals with a mutation in the ATP2B3 gene have these features. In particular carrier females are asymptomatic. Only hemizygous male are affected.
This website was created to share and collect information about clinic, management and research projects to gather more knowledge and provide better treatment of patients with mutations in the ATP2B3 gene.
Ginevra Zanni, MD, PhD, Bambino Gesù Children’s Hospital, IRCCS, Rome, Italy, firstname.lastname@example.org