Varied autopsy findings in five treated patients with Gaucher disease and parkinsonism include the absence of Gaucher cells

Gianina Monestime, Daniel K. Borger, Jenny Kim, Grisel Lopez, Michael Allgaeuer, Dhanpat Jain, Alexander Vortmeyer, Hao Wei Wang, Ellen Sidransky

Research output: Contribution to journalArticle

3 Scopus citations

Abstract

Enzyme replacement therapy is standard of care for patients with Gaucher disease, as it significantly improves skeletal, visceral, and hematological symptoms. Few pathological studies have documented the extent of pathological findings in treated patients. Autopsy findings in five treated patients, who ultimately developed parkinsonism, ranged from the complete absence of Gaucher pathology to extensive involvement of multiple tissues, without correlation to age, genotype, spleen status, or dose/duration of therapy. Additional autopsies may elucidate modifiers and biomarkers contributing to disease burden and response to therapy.

Original languageEnglish (US)
Pages (from-to)55-59
Number of pages5
JournalMolecular Genetics and Metabolism
Volume118
Issue number1
DOIs
StatePublished - May 1 2016
Externally publishedYes

Keywords

  • Autopsy reports
  • Enzyme replacement therapy
  • Gaucher disease
  • Modifier genes

ASJC Scopus subject areas

  • Endocrinology, Diabetes and Metabolism
  • Biochemistry
  • Molecular Biology
  • Genetics
  • Endocrinology

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