Subclinical neurological involvement does not develop if Wilson's disease is treated early

Area of Science:

• Neurology
• Genetics
• Metabolic Disorders

Background:

• Wilson disease (WD) is a genetic disorder of copper metabolism affecting the liver and brain.
• Untreated WD is fatal, but early treatment improves prognosis, though long-term neurological outcomes require clarification.

Purpose of the Study:

• To evaluate the long-term neurological status of early-treated WD patients without overt nervous system impairment.
• To assess for subclinical neurological involvement using advanced neurophysiological, neuropsychological, and neuroimaging methods at least 10 years post-treatment initiation.

Main Methods:

• Studied 38 WD patients (mean age 24.47 years) diagnosed early and treated promptly.
• Utilized Global Assessment Scale, neurophysiological tests (transcranial magnetic stimulation), brain MRI, and neuropsychological assessments.
• Patients received penicillamine or zinc salts with good adherence.

Main Results:

• No clinical neurological signs or impairment were observed (mean Global Assessment Scale score 0.3 ± 0.7).
• Neuroimaging (MRI), neurophysiological (TMS), and neuropsychological evaluations ruled out subclinical neurological involvement.
• Patients showed good adherence to treatments like penicillamine and zinc salts.

Conclusions:

• Early diagnosis and treatment of Wilson disease can prevent neurological damage, including subclinical manifestations.
• This suggests a favorable long-term neurological prognosis for WD patients treated early.