Spinocerebellar Ataxia Type 12

What is Spinocerebellar Ataxia Type 12 (SCA12) test?

Spinocerebellar Ataxia Type 12 (SCA12) is a rare inherited neurodegenerative disorder caused by a CAG trinucleotide repeat expansion in the PPP2R2B gene. This test analyzes a blood sample collected in an EDTA tube to detect expanded CAG repeats in the PPP2R2B gene, confirming or ruling out SCA12.

Why consider Spinocerebellar Ataxia Type 12 (SCA12) test?

You should consider this test if:

• You or a family member shows signs of progressive cerebellar ataxia
• There's a family history of hereditary ataxia, especially among individuals of North Indian ancestry (where SCA12 is more common)
• You need to confirm a clinical diagnosis of SCA12
• You are undergoing predictive or carrier testing
• It's part of a differential diagnosis to distinguish among other types of spinocerebellar ataxia

Who should get tested for Spinocerebellar Ataxia Type 12 (SCA12) test?

This test is recommended for:

• Individuals showing:
• Tremors (especially of hands or head)
• Slowly progressive gait imbalance
• Slurred speech
• Mild cognitive decline (occasionally)
• People with a family history of SCA12
• Individuals of Indian descent, particularly from North India, where SCA12 has higher prevalence
• Asymptomatic relatives of affected individuals, for genetic counseling or family planning

More Information

OTHER NAMES: SCA12 Genetic Test, PPP2R2B Repeat Expansion Test, Spinocerebellar Ataxia Type 12 DNA Analysis, Hereditary Ataxia Type 12 Test, Autosomal Dominant Cerebellar Ataxia Type 12

Spinocerebellar Ataxia Type 12 (SCA12) is an inherited neurodegenerative disorder that primarily affects coordination, balance, and motor control. It belongs to the family of spinocerebellar ataxias, but SCA12 is distinct in its early and prominent symptom of action tremor.