This website provides information on patients with mutations in the CA8 gene, including clinical data, molecular data, management and research options.
Faults (mutations) in the CA8 gene cause a condition called CA8-related cerebellar ataxia, alternatively named ‘cerebellar ataxia, mental retardation and dysequilibrium syndrome 3’ (CAMRQ3). This is a rare condition characterized by cerebellar hypoplasia or atrophy, developmental delay / intellectual disability, ataxia and changes to gait (walking stance). Not all individuals with a mutation in the CA8 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 mutations in the CA8 gene.
Chris Richmond, Clinical Geneticist (FRACP, MBBS, BBiomedSc), Genetic Health Queensland, Brisbane, Australia, email@example.com