Patients with Wilson's Disease Are Insensitive to Sulfur Odors

Research output: Contribution to journalLetterContributedpeer-review

Contributors

Abstract

Wilson's disease (WD) is a rare autosomal recessive disorder caused by mutations in the copper-transporter ATP7B and characterized by the maldistribution of copper, including accumulation in the liver and the brain. WD patients are known to have reduced general olfactory function, especially those with neurological symptoms.1, 2 Furthermore, it might be suspected that WD patients in particular have a missing or reduced olfactory perception of sulfur compounds according to a series of anecdotal reports from patients, who exhibit a lack of perception of, for example, rotten eggs, the smell of flatulence and secretions of the skunk. Based on in vitro findings, it has been proposed that the presence of copper is essential for olfactory perception of sulfur compounds by odorant receptors in the nasal cavity.3, 4 We investigated whether sulfur perception is altered in WD patients when compared to age-matched healthy controls (HC).

Details

Original languageEnglish
Pages (from-to)118-119
Number of pages2
JournalMovement disorders clinical practice
Volume12
Issue number1
Publication statusE-pub ahead of print - 17 Oct 2024
Peer-reviewedYes

External IDs

ORCID /0000-0001-9713-0183/work/170107729
Scopus 85206856238

Keywords