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June 2022; 8 (3) Research ArticleOpen Access

Clinical Evidence for Variegated Silencing in Patients With Friedreich Ataxia

View ORCID ProfileLayne N. Rodden, View ORCID ProfileChristian Rummey, Yi Na Dong, David R. Lynch
First published May 17, 2022, DOI: https://doi.org/10.1212/NXG.0000000000000683
Layne N. Rodden
From the Departments of Pediatrics and Neurology (L.N.R., Y.N.D., D.R.L.), Children's Hospital of Philadelphia, Perelman School of Medicine, University of Pennsylvania; and Clinical Data Science GmbH (C.R.), Basel, Switzerland.
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  • ORCID record for Layne N. Rodden
  • For correspondence: layne.rodden@gmail.com
Christian Rummey
From the Departments of Pediatrics and Neurology (L.N.R., Y.N.D., D.R.L.), Children's Hospital of Philadelphia, Perelman School of Medicine, University of Pennsylvania; and Clinical Data Science GmbH (C.R.), Basel, Switzerland.
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Yi Na Dong
From the Departments of Pediatrics and Neurology (L.N.R., Y.N.D., D.R.L.), Children's Hospital of Philadelphia, Perelman School of Medicine, University of Pennsylvania; and Clinical Data Science GmbH (C.R.), Basel, Switzerland.
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David R. Lynch
From the Departments of Pediatrics and Neurology (L.N.R., Y.N.D., D.R.L.), Children's Hospital of Philadelphia, Perelman School of Medicine, University of Pennsylvania; and Clinical Data Science GmbH (C.R.), Basel, Switzerland.
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Citation
Clinical Evidence for Variegated Silencing in Patients With Friedreich Ataxia
Layne N. Rodden, Christian Rummey, Yi Na Dong, David R. Lynch
Neurol Genet Jun 2022, 8 (3) e683; DOI: 10.1212/NXG.0000000000000683

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    Figure 1 GAA1 Length Is Predictive of Blood Frataxin Level and Age of Onset Only in Sub-cohorts of Patients With Less Than 700 GAA Triplets

    Linear regression analysis comparing GAA1 length with blood frataxin level (A) and age of onset (AoO) (B) in the entire cohort (All samples) and for subgroups stratified by GAA1 length. Correlation coefficient (R2) values are plotted for each subgroup. Black data points represent results for patients with less than or equal to the GAA1 cutoffs listed on the X-axis (e.g., less than or equal to 200 triplets, 300 triplets). Red data points represent results for patients with greater than the GAA1 cutoffs listed on the X-axis (e.g., greater than 200 triplets, 300 triplets). Filled data points indicate p < 0.01; open data points indicate n.s. Linear regression plots comparing GAA1 length with blood frataxin level (C) and AoO (D) for the entire cohort stratified by GAA1 less than or equal to 700 triplets (gray circles, black fit line) or more than 700 triplets (white circles, red fit line).

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    Figure 2 Predictions of Neurological Dysfunction by Disease Duration Are Better in the Sub-cohort of Patients With >700 GAA Triplets Compared to the Entire Cohort
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    Figure 3 Prevalence of Cardiomyopathy and Scoliosis Increases in Patient Cohorts as GAA1 Length Increases Until It Plateaus at 700 GAA Triplets

    Prevalence of cardiomyopathy (A), scoliosis (B), and diabetes (C) for the entire cohort (n = all) and for sub-cohorts stratified by GAA1 length.

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