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Biallelic CAG Repeat Expansion in the ATXN2 Gene Presenting with Parkinsonism and Spasticity
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DOI：10.1016/j.parkreldis.2025.108168.png)
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Abstract
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• Biallelic ATXN2 CAG expansions identified in a patient with parkinsonism and spasticity • Distinct phenotypes in siblings suggest diagnostic value of family history • Age of onset is earlier in biallelic cases than in monoallelic parkinsonian patients • No correlation between CAG repeat length and age of onset in parkinsonian phenotype
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