ArticleBrain and behavior2026
A Comprehensive and Critical Evaluation of Autonomic Nervous System Impairment in Patients with Wilson Disease: A Cross-Sectional Study.
Article in Brain and behavior, 2026. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Cited by 1 paper.
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1 citing paper in PubMed.
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15 authors.
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Abstract
backgroundWilson's disease (WD) is an autosomal recessive disorder of copper metabolism with heterogeneous hepatic and neurological manifestations. Autonomic nervous system (ANS) involvement in WD is poorly recognized and remains inadequately studied, despite its potential to cause significant morbidity if unrecognized. This study aimed to assess the presence and severity of autonomic dysfunction in patients with WD and to examine its association with clinical and biochemical parameters using standardized autonomic tests and comprehensive cardiac evaluation.
methodsA comparative cross-sectional study was conducted at a tertiary care center between September 2021 and March 2023. Patients with a confirmed diagnosis of WD, based on clinical, biochemical, and genetic criteria, were enrolled and compared with age- and sex-matched healthy controls. All participants underwent biochemical evaluation, including serum ceruloplasmin, 24-h urinary copper excretion, and liver function tests. Autonomic function was assessed using Ewing's battery of tests (deep breathing, Valsalva maneuver, head-up tilt [HUT], isometric handgrip and cold pressor test)and heart rate variability (HRV) analysis. Cardiac assessment included transthoracic echocardiography, 24-h Holter monitoring, and cardiac magnetic resonance imaging. Statistical analysis comprised descriptive statistics and Kendall's correlation analysis, with statistical significance set at p < 0.05.
resultsPatients with WD demonstrated significant autonomic dysfunction compared with healthy controls, predominantly involving parasympathetic impairment, as evidenced by abnormal Ewing's test responses and reduced HRV indices. Although no overt structural cardiac abnormalities were identified, cardiac rhythm disturbances were observed in a subset of WD patients.
conclusionAutonomic dysfunction, particularly parasympathetic impairment, is a clinically relevant but underrecognized feature of WD. Incorporating systematic autonomic function assessment into routine clinical evaluation may enable early detection of subclinical dysfunction, guide timely interventions, and potentially prevent progression to clinically significant autonomic complications in patients with WD.
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