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Clinical and genetic association studies reveal within-individual variability as an integral part of Huntington disease
2024-05-20
neurology
Title + abstract only
View on medRxiv
Show abstract
Huntington disease (HD) is one of the most common repeat expansion disorders. Clinically, HD patients exhibit considerable visit-to-visit variability in symptoms and signs independent of measuring method or rater, yet neither the precise nature nor the determinants of this clinical variability are known. Leveraging detailed genetic and longitudinal clinical data from large cohorts of HD patients, this work 1) establishes within-individual variability in disease expression as an integral part of ...
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