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Olfactory impairment in Wilson's disease.

Lei Chen1, Xin Wang1, Richard L Doty2

  • 1Department of Neurology, Tianjin Huan Hu Hospital, Tianjin Key Laboratory of Cerebrovascular and Neurodegenerative Diseases, Tianjin, China.

Brain and Behavior
|January 8, 2021
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Summary

Patients with Wilson's disease (WD) show impaired smell identification. Specific odors can help screen for WD, potentially aiding in early diagnosis and prediction of the neurodegenerative disorder.

Keywords:
Wilson’s diseasediagnosisolfactory function

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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.