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

• In Gaucher disease the response to enzyme replacement therapy can be variable.
• Some treated patients showed no Gaucher cells at autopsy.
• Others showed a high disease burden despite rigorous treatment.
• Autopsy studies may help to identify disease modifiers.

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.