Diagnosing Wilson's disease under the sword of damocles

Ronald F. Pfeiffer

Research output: Contribution to journalArticlepeer-review

2 Scopus citations


Introduction. Antos et al. [7] have reported a case of suspected uniparental disomy leading to an initial erroneous diagnosis of Wilson's Disease on the basis of genetic testing. They discuss the usefulness of the 64Cu radioactive copper incorporation test as an often-overlooked diagnostic aid. Clinical reflections. Wilson's Disease is difficult to diagnose because of its rarity, diverse clinical presentations, and the absence of a single fail-safe diagnostic test. The identification of mutations in the ATP7B gene has been an invaluable aid in the diagnosis, but genetic testing alone is not infallible, and should not be used as the sole diagnostic test in arriving at a diagnosis of Wilson's Disease. Clinical implications. The diagnosis of Wilson's Disease must be based on a combination of findings that includes clinical history, clinical examination, and diagnostic testing. Genetic testing alone is insufficient.

Original languageEnglish (US)
Pages (from-to)364-365
Number of pages2
JournalNeurologia i Neurochirurgia Polska
Issue number5
StatePublished - Oct 30 2020

ASJC Scopus subject areas

  • Surgery
  • Clinical Neurology


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