Sudomotor dysfunction is frequent and correlates with disability in Friedreich ataxia

Clinical Neurophysiology : Official Journal of the International Federation of Clinical Neurophysiology
Karen A G TakazakiMarcondes C França

Abstract

To evaluate autonomic symptoms and function in Friedreich's Ataxia (FRDA). Twenty-eight FRDA patients and 24 controls underwent clinical/electrophysiological testing. We employed 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. We found abnormal sudomotor but normal heart rate variability in FRDA. Small cholinergic post-ganglionic fibers are affected in the disease. Quantification of s...Continue Reading

Citations

Nov 30, 2018·European Journal of Neurology : the Official Journal of the European Federation of Neurological Societies·C González-SalazarM C França
Nov 27, 2020·Human Gene Therapy·Ian H HardingMassimo Pandolfo
Jul 27, 2021·Movement Disorders Clinical Practice·Malco RossiMarcelo Merello
Aug 10, 2021·The Cerebellum·Cristina Saade JaquesOrlando Graziani Povoas Barsottini

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