Autonomic dysfunction in patients with Huntington's disease: Evidence from standardized cardiovascular reflex testing
Giannicola Carrozzo, Giovanna Calandra-Buonaura, Giulia Di Rauso, Maria Vitiello, Annagrazia Cerere, Giorgio Barletta, Pietro Cortelli, Pietro Guaraldi, Cesa Lorella Maria ScaglioneBackground
Autonomic dysfunction has been reported in Huntington's disease (HD), but its extent and mechanisms remain unclear. This study aimed to evaluate autonomic function using standardized cardiovascular autonomic reflex tests (CRTs) in a cohort of genetically confirmed HD patients.
Methods
In this single-center, cross-sectional study, we assessed 16 patients with manifest HD using head-up tilt test (HUTT), Valsalva maneuver (VM), deep breathing test, cold face test, and handgrip test, all performed under continuous blood pressure (BP) and heart rate (HR) monitoring. Age- and sex-matched healthy controls (HC) were included for comparison.
Results
Based on medical history, 56% of HD patients reported symptoms of orthostatic intolerance while standing. During HUTT, they showed a significant reduction in ΔBP. BP overshoot during VM was also significantly reduced. HR responses and BP changes did not differ significantly between groups across all other maneuvers. When stratified by disease stage, parasympathetic indices were lower in later-stage patients.
Conclusions
HD patients exhibited subclinical adrenergic abnormalities on CRTs, with initially preserved cardiovagal control, a pattern compatible with central autonomic involvement and possible progressive impairment of both sympathetic and parasympathetic systems over time.