SCA 12 is a “polyglutamine” disorder caused by a specific genetic mutation—a CAG repeat expansion—on the PPP2R2B gene (located on chromosome 5).
- The Mutation: Everyone has a certain number of CAG repeats in this gene. However, in people with SCA 12, this sequence repeats too many times.
- The Result: This expansion leads to the progressive degeneration of the cerebellum (the part of the brain that controls coordination) and other brain regions.
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