Multi-modality Evoked Potentials and Electroretinogram in Patients with Wilson's Disease
Karthik Kolluru1, Divya M Radhakrishnan1, Achal Kumar Srivastava1, Awadh Kishor Pandit1, Roopa Rajan1, Animesh Das1, Ela Varasi1, Ayush Agarwal1, Divyani Garg1, Ajay Garg2, Shalimar .3, Rebika Dhiman4
1Neurology, 2Neuroimaging and Interventional Neuroradiology, 3Gatroenterology and Human Nutrition, 4Ophthalmology, All India institute of Medical Sciences New Delhi
Objective:

Objective: To systematically evaluate multimodal evoked potentials (VEP, BAEP, SSEP, MEP) and full-field ERG in symptomatic WD patients and asymptomatic at-risk siblings compared to healthy controls, and assess their potential as biomarkers for early detection, disease monitoring, and therapeutic response evaluation.



Background:

Conventional diagnostic approaches in Wilson's disease (WD) often fail to detect early or subclinical neurological involvement, particularly in asymptomatic at-risk family members. Electrophysiological techniques offer sensitive, objective measures of neural pathway integrity that may reveal functional disturbances preceding structural MRI changes.


Design/Methods:

A prospective observational study (February 2024-March 2025) enrolled 40 symptomatic WD patients (mean age 20.2±5.95 years), 10 asymptomatic family members, and 20 age-matched controls. Comprehensive electrophysiological assessment included pattern-reversal VEP, BAEP, median nerve SSEP, transcranial magnetic stimulation MEP, and ISCEV-standard full-field ERG. Clinical severity was assessed using the MDS-Global Assessment Scale. Follow-up evaluation at 6 months assessed treatment response and disease progression using ANOVA and correlation analyses.


Results:
Symptomatic WD patients demonstrated significant electrophysiological abnormalities across multiple modalities. VEP showed prolonged P100 (136.13±24.60ms vs 98.45±6.95ms, p<0.05) and N145 latencies (169.69±27.34ms vs 135.38±4.68ms, p<0.05). BAEP revealed delayed Wave III and V latencies with prolonged interpeak intervals. ERG showed preferential photopic dysfunction with reduced cone responses (10.16±1.64μV vs 33.57±4.16μV, p<0.05). Asymptomatic siblings exhibited subclinical abnormalities, particularly prolonged cortical SSEP latencies and ERG dysfunction. At 6-month follow-up, symptomatic patients showed partial BAEP improvement (p<0.05)
Conclusions:

Electrophysiological techniques in Wilson’s disease can detect functional abnormalities that may precede overt clinical symptoms, and subclinical changes are observable in some asymptomatic individuals. Multimodal evoked potentials and ERG show promise for supplementing conventional assessment methods; further studies are warranted to clarify their role in early diagnosis and longitudinal monitoring.


10.1212/WNL.0000000000216951
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