Olfactory impairment in Wilson's disease.

Area of Science:

• Neurology
• Neuroscience
• Ophthalmology

Background:

• Olfactory dysfunction is an early indicator of neurodegenerative diseases.
• Olfactory function in Wilson's disease (WD) is not well understood.
• WD is a genetic disorder causing copper accumulation.

Purpose of the Study:

• To assess olfactory identification in WD patients.
• To identify specific odors for WD screening.

Main Methods:

• Olfactory identification was measured using the University of Pennsylvania Smell Identification Test (UPSIT) in 25 WD patients and 25 controls.
• Neurological status was assessed using the Global Assessment Scale for WD (GAS).
• Logistic regression and ROC curve analysis were used to identify screening odors.

Main Results:

• WD patients had significantly worse smell identification than controls (p=0.033).
• Smell identification scores negatively correlated with neurological severity in WD patients (r=-0.571, p=0.003).
• A combination of seven odors achieved an AUC of 0.926, and three odors (onion, licorice, jasmine) achieved an AUC of 0.852 for discriminating WD patients.

Conclusions:

• WD patients exhibit stable, selective olfactory impairments.
• These olfactory deficits may serve as a diagnostic and predictive tool for WD.
• Specific odor combinations show potential for developing a WD screening test.