This website provides information on patients with mutations in the TDP2 gene, including clinical data, molecular data, management and research options.
The syndrome spinocerebellar ataxia autosomal recessive 23 (SCAR23) caused by mutations in the TDP2 gene is a multisystem disorder characterized by seizures, ataxia, developmental delay and intellectual disability.
Not all individuals with a mutation in the TDP2 gene have all of 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 TDP2 gene.
Keith W. Caldecott, PhD, Genome Damage and Stability Centre, Brighton, UK, k.w.caldecott@sussex.ac.uk