Aikaterini Vezyroglou, Rhoda Akilapa, Katy Barwick, Saskia Koene, Catherine A Brownstein, Muriel Holder-Espinasse, Andrew E Fry, Andrea H Németh, George K Tofaris, Eleanor Hay, Imelda Hughes, Sahar Mansour, Santosh R Mordekar, Miranda Splitt, Peter D Turnpenny, Demetria Demetriou, Tamara T Koopmann, Claudia A L Ruivenkamp, Pankaj B Agrawal, Lucinda Carr, Virginia Clowes, Neeti Ghali, Susan Elizabeth Holder, Jessica Radley, Alison Male, Sanjay M Sisodiya, Manju A Kurian, J Helen Cross, Meena Balasubramanian
BACKGROUND AND OBJECTIVES: ATP1A3 is associated with a broad spectrum of predominantly neurologic disorders, which continues to expand beyond the initially defined phenotypes of alternating hemiplegia of childhood, rapid-onset dystonia parkinsonism, and cerebellar ataxia, areflexia, pes cavus, optic atrophy, sensorineural hearing loss syndrome. This phenotypic variability makes it challenging to assess the pathogenicity of an ATP1A3 variant found in an undiagnosed patient. We describe the phenotypic features of individuals carrying a pathogenic/likely pathogenic ATP1A3 variant and perform a literature review of all ATP1A3 variants published thus far in association with human neurologic disease...
October 4, 2022: Neurology