SCA1 Mutation Analysis

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Table 1. Summary of Molecular Genetic Testing Used in SCA1

 

Gene

Test Method

Mutation Detected

Mutation Detection Frequency by Test Method 1

ATXN1

Targeted mutation analysis (PCR)

≤ ~100 CAG repeats

>99%

Targeted mutation analysis (Southern blot, long-range PCR, CAG-primed PCR)

> ~100 CAG repeats

<1% 2

1. The ability of the test method used to detect a mutation that is present in the indicated gene

2. Typically observed in individuals with infantile or childhood onset in families with SCA1

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