## Core Concept
Spinocerebellar ataxia type 6 (SCA6) is a subtype of autosomal dominant cerebellar ataxias, characterized by progressive ataxia and cerebellar degeneration. It is caused by an expansion of a CAG repeat in a specific gene. Understanding the genetic basis of SCA6 is crucial for diagnosis and management.
## Why the Correct Answer is Right
The correct answer involves an expansion of a CAG repeat in the **CACNA1A gene**, which encodes the pore-forming Ξ±1A subunit of P/Q-type voltage-gated calcium channels. This gene is crucial for neurotransmitter release and synaptic plasticity. The expansion leads to a polyglutamine tract in the calcium channel protein, disrupting its function and leading to neuronal degeneration.
## Why Each Wrong Option is Incorrect
- **Option A:** This option is incorrect because it does not specify the correct gene or repeat associated with SCA6.
- **Option B:** This option is incorrect as it refers to a different type of repeat expansion or gene associated with another condition.
- **Option C:** This option might seem plausible but is incorrect because it does not accurately represent the genetic defect in SCA6.
## Clinical Pearl / High-Yield Fact
A key clinical pearl is that SCA6 typically presents with **late-onset, slowly progressive ataxia**, often with a relatively benign course compared to other SCA types. The **CAG repeat expansion** in the CACNA1A gene is diagnostic, and genetic testing can confirm the condition.
## Correct Answer Line
**Correct Answer: C. CAG repeat in CACNA1A gene.**
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