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Describes novel atxn2 variants linked to early-onset neurodegenerative disorders in varying genetic states, indicating significant implications.
This study describes a novel ATXN2 expansion within the classic pathogenic range for SCA2 that manifests as an early-onset neurodegenerative disorder in the homozygous state, while being asymptomatic into late adulthood in the heterozygous state.
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Saucier et al. (2026) studied this question.
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