This website provides information on patients with pathogenic variants in ATP8A2 gene, including clinical data, molecular data, management and research options.

The syndrome caused by pathogenic variants in ATP8A2 is a multisystem disorder characterized by a combination of a cerebellar syndrome with other movement disorders (dystonia, chorea/choreoatetosis) and cognitive dysfunction.

Not all individuals with a mutation in the ATP8A2 gene have these features.

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 pathogenic variants in ATP8A2.

Joana Damásio, MD, Centro Hospitalar Universitário do Porto, Porto, Portugal

João Moura, MD, Centro Hospitalar Universitário do Porto, Porto, Portugal, moura.neuro@chporto.min-sade.pt

Mariana Santos, Researcher, PhD, IBMC/i3S, University of Porto, Porto, Portugal, mariana.graca@ibmc.up.pt