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Assessment of ATXN2 Repeat Expansion Length and Risk of ALS: A Meta-Analysis

2026-01-13 genetic and genomic medicine Title + abstract only
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ATXN2 expansions of [≥]33 CAG-repeats are associated with spinocerebellar ataxia type 2, while "intermediate" length expansions have been associated with amyotrophic lateral sclerosis (ALS). Yet, no consensus is established regarding the lengths that define a true association with ALS risk, with recent studies debating between a lower limit of [≥]29 or [≥]31 repeats. Here, we assessed the risk of ALS imparted by various ATXN2 repeat lengths to establish an accepted lower limit of repeat...

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