This website provides information on patients with mutations in the ANO10 gene, including clinical data, molecular data, management and research options.

The phenotype caused by mutations in the ANO10 gene is a multisystem disorder characterized by a variable age of onset, progressive gait and limb ataxia, dysarthria, ocular movement impairments including horizontal, vertical, downbeat nystagmus and hypermetric saccades, increased deep tendon reflexes, and sometimes motor neuron involvement, intellectual deficit and coenzyme Q10 deficiency in muscle.

Not all individuals with a mutation in the ANO10 gene have all 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 mutations in the ANO10 gene.

Ioannis Livanos, MSc, PhD candidate, Neurogenetics Department, The Cyprus Institute of Neurology and Genetics, Nicosia, Cyprus, livanosi@cing.ac.cy

Christina Votsi, PhD, Neurogenetics Department, The Cyprus Institute of Neurology and Genetics, Nicosia, Cyprus, votsi@cing.ac.cy

Kyproula Christodoulou, PhD, Neurogenetics Department, The Cyprus Institute of Neurology and Genetics, Nicosia, Cyprus, roula@cing.ac.cy