Evoked Potentials in Patients With Wilson Disease.

Area of Science:

• Neuroscience
• Genetics
• Metabolic Disorders

Background:

• Wilson disease (WD) is an inherited copper metabolism disorder with diverse clinical presentations, often affecting the liver or nervous system.
• Evoked potentials, including visual evoked potentials (VEP) and brainstem auditory evoked potentials (BAEP), are frequently abnormal in WD patients, even those without overt neurological symptoms.

Purpose of the Study:

• To evaluate the utility of VEP and BAEP in assessing neurological involvement across various presentations of Wilson disease.

Main Methods:

• VEP testing was conducted on 36 WD patients.
• BAEP testing was performed on 37 WD patients.
• Results were compared to healthy controls.

Main Results:

• BAEP were normal in isolated hepatic WD but abnormal in 93.5% of patients with neurological symptoms, showing prolonged latencies.
• VEP abnormalities were observed in 81% of WD patients, including neurologically asymptomatic individuals.
• Significantly prolonged latencies (N75, P100, N145) were noted in VEP for all WD patients compared to controls.

Conclusions:

• VEP and BAEP are more frequently abnormal in Wilson disease than previously recognized.
• Abnormalities in VEP and BAEP suggest subclinical visual and auditory pathway involvement due to copper toxicity, even without clinical or MRI evidence.
• VEP and BAEP are recommended as noninvasive, accessible diagnostic tools for all Wilson disease patients.