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 in Thrissur?

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 in Thrissur?

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.

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.