Targeted syndrom under study



In 2009, Turkmen et al. first reported Cerebellar ataxia, impaired intellectual development, and dysequilibrium syndrome 3 caused by biallelic mutations in the CA8 gene. These patients showed various degrees of congenital cerebellar ataxia and intellectual disability. Since the initial description, 14 individuals from six families have been identified in the literature. We have collected 10 patients from 6 families. The aim of this project is to identify new individuals with CA8-related disorders and update the clinical and radiological phenotype.

Coordinating clinicians/researchers

Reza Maroofian –
Darío Ortigoza –
Rauan Kaiyrzhanov –


University College of London
Hospital Sant Joan de Déu, Barcelona

Specific requirements beyond clinical data and genotype data sharing:

  • Re-analysis of DNA samples: No
  • Resampling of patients: No
  • Linked to a translational/basic research project: No