Spinal Cerebral Ataxia Type - 6

What is Spinal Cerebellar Ataxia Type 6 (SCA6) test?

Spinocerebellar Ataxia Type 6 (SCA6) is a rare, inherited neurodegenerative disorder that affects coordination and balance. It is caused by a CAG trinucleotide repeat expansion in the CACNA1A gene.  The SCA6, EDTA BLOOD test is a genetic test that analyses a sample of blood to check for the expanded CAG repeats in the CACNA1A gene.

Why consider Spinal Cerebellar Ataxia Type 6 (SCA6) test?

This test is considered when:

• A person shows progressive balance and coordination problems, especially involving the cerebellum.
• There is a family history of spinocerebellar ataxia.
• A neurologist suspects SCA6 based on clinical symptoms and possibly imaging (e.g., cerebellar atrophy on MRI).
• Pre-symptomatic or predictive testing is requested by individuals with a family history.
• Genetic confirmation is needed for diagnosis, prognosis, and counselling.

Who should get tested for Spinal Cerebellar Ataxia Type 6 (SCA6) test?

You should consider this test if:

• You are experiencing:
• Unsteady gait
• Impaired coordination
• Slurred speech (dysarthria)
• Tremors or eye movement abnormalities
• You have a first-degree relative (parent, sibling) diagnosed with SCA6 or suspected of having it.
• You're undergoing genetic counseling and want to assess the risk for yourself or your children.
• There’s a suspicion of late-onset cerebellar ataxia with no known cause.

More Information

OTHER NAMES: SCA6 Genetic Test, Spinocerebellar Ataxia Type 6 Test, CACNA1A Gene Mutation Test, Hereditary Ataxia Type 6 Test, Ataxia Genetic Testing

Spinocerebellar Ataxia Type 6 (SCA6) is a rare, inherited neurodegenerative disorder that primarily affects the cerebellum — the part of the brain responsible for coordination, balance, and fine motor control. SCA6 is one of several types of spinocerebellar ataxias (SCAs), which are a group of autosomal dominant ataxias — meaning a single copy of the mutated gene from one parent is enough to cause the disorder. SCA6 is caused by a CAG trinucleotide repeat expansion in the CACNA1A gene, which encodes a calcium channel involved in nerve signaling in the brain. Diagnosis is confirmed through a genetic test that detects the number of CAG repeats in the CACNA1A gene.