Molecular Characteristics for Families

CA8-related cerebellar ataxia is caused by spelling mistakes (mutations) in the CA8 gene. The CA8 gene provide instructions for making a protein called carbonic anhydrase-related peptide 8 (CARP8), which is thought to play a role in early development of the cerebellum. It is necessary for both copies of the CA8 gene to be faulty to have the condition (autosomal recessive inheritance).

Diagnosis of CA8-related cerebellar ataxia must be made with genetic testing in a healthcare setting. As the condition overlaps with many of the other genetic causes of hereditary ataxia, most tests will involve analysis of multiple genes which may include CA8. This condition may be diagnosed through:
•    Gene panel testing
•    Whole exome sequencing
•    Whole genome sequencing.

If a diagnosis is confirmed in a child, then carrier testing might be considered in both parents to confirm a diagnosis and/or inform future family planning.

Please discuss with your Doctor if these tests may be useful for you / your family member.