A Novel Metric for Predicting Severity of Disease Features in Friedreich’s Ataxia

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• A Novel Metric for Predicting Severity of Disease Features in Friedreich's Ataxia March 17, 2023 Mov Disord. 2023 Mar 16. doi: 10.1002/mds.29370. Online ahead of print.ABSTRACTBACKGROUND: Friedreich's ataxia (FRDA), most commonly caused by a GAA triplet repeat (GAA-TR) expansion in intron 1 of the FXN gene, is characterized by deficiency of frataxin protein and clinical features such as progressive ataxia, dysarthria, impaired proprioception and vibration, abolished deep tendon reflexes, Babinski sign, and vision loss in…
• A Novel Metric for Predicting Severity of Disease Features in Friedreich's Ataxia March 17, 2023 Mov Disord. 2023 Mar 16. doi: 10.1002/mds.29370. Online ahead of print.ABSTRACTBACKGROUND: Friedreich's ataxia (FRDA), most commonly caused by a GAA triplet repeat (GAA-TR) expansion in intron 1 of the FXN gene, is characterized by deficiency of frataxin protein and clinical features such as progressive ataxia, dysarthria, impaired proprioception and vibration, abolished deep tendon reflexes, Babinski sign, and vision loss in…
• A Novel Metric for Predicting Severity of Disease Features in Friedreich's Ataxia March 17, 2023 Mov Disord. 2023 Mar 16. doi: 10.1002/mds.29370. Online ahead of print.ABSTRACTBACKGROUND: Friedreich's ataxia (FRDA), most commonly caused by a GAA triplet repeat (GAA-TR) expansion in intron 1 of the FXN gene, is characterized by deficiency of frataxin protein and clinical features such as progressive ataxia, dysarthria, impaired proprioception and vibration, abolished deep tendon reflexes, Babinski sign, and vision loss in…
• A Novel Metric for Predicting Severity of Disease Features in Friedreich's Ataxia March 17, 2023 Mov Disord. 2023 Mar 16. doi: 10.1002/mds.29370. Online ahead of print.ABSTRACTBACKGROUND: Friedreich's ataxia (FRDA), most commonly caused by a GAA triplet repeat (GAA-TR) expansion in intron 1 of the FXN gene, is characterized by deficiency of frataxin protein and clinical features such as progressive ataxia, dysarthria, impaired proprioception and vibration, abolished deep tendon reflexes, Babinski sign, and vision loss in…
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