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Sudomotor dysfunction is frequent and correlates with disability in Friedreich ataxia

This study set out to evaluate autonomic symptoms and function in Friedreich's Ataxia (FRDA).Twenty-eight FRDA patients and 24 controls underwent clinical/electrophysiological testing. They used the Friedreich's Ataxia Rating Scale (FARS) and the Scales for Outcomes in Parkinson's Disease: Autonomic Questionnaire-SCOPA-AUT to estimate the intensity of ataxia and autonomic complaints, respectively. Cardiovagal tests and the quantitative sudomotor axonal reflex, Q-SART, were then assessed in both groups. In the patient group, there were 11 men with mean age of 31.5 ± 11.1 years. Mean SCOPA-AUT score was 15.1 ± 8.1. Minimum RR interval at rest was shorter in the FRDA group (Median 831.3 × 724.0 ms, p < 0.001). The 30:15 ratio, Valsalva index, E:I ratio, low and high frequency power presented no differences between patients and controls (p > 0.05). Sweat responses were significantly reduced in patients for all sites tested (forearm 0.389 × 1.309 µL; proximal leg 0.406 × 1.107 µL; distal leg 0.491 × 1.232 µL; foot 0.265 × 0.708 µL; p value < 0.05). Sweat volumes correlated with FARS scores. Overall, they found abnormal sudomotor but normal heart rate variability in FRDA. Small cholinergic post-ganglionic fibers were affected in the disease. They conclude that quantification of sudomotor function might be a biomarker for FRDA.

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Jane Larkindale

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