Targeted gene under study

SLC9A1 and CHP1, OMIM: 616291, 618438


Rare recessive variants in SLC9A1 and CHP1 cause a syndrome of early-onset cerebellar ataxia and variable sensorineural hearing loss. So far, only 3 families with SLC9A1-related ataxia and 2 families with CHP1-related ataxia have been identified. We have identified 18 additional patients with SLC9A1-related ataxia from 13 families. The aim of this project is to identify new patients with SLC9A1-related ataxia and CHP1-related ataxia and further delineate the phenotypic spectrum of these ultra-rare disorders.

Coordinating clinicians/researchers

Reza Maroofian –


University College London, London, UK

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