title: Varied autopsy findings in five treated patients with Gaucher disease and parkinsonism include the absence of Gaucher cells.
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.
authors.affiliation: Section of Molecular Neurogenetics, National Human Genome Research Institute, USA.
authors.forename: Gianina
authors.initials: G
authors.lastname: Monestime
authors.affiliation: Section of Molecular Neurogenetics, National Human Genome Research Institute, USA.
authors.forename: Daniel K
authors.initials: DK
authors.lastname: Borger
authors.affiliation: Section of Molecular Neurogenetics, National Human Genome Research Institute, USA.
authors.forename: Jenny
authors.initials: J
authors.lastname: Kim
authors.affiliation: Section of Molecular Neurogenetics, National Human Genome Research Institute, USA.
authors.forename: Grisel
authors.initials: G
authors.lastname: Lopez
authors.affiliation: Laboratory of Pathology, Center for Cancer Research, National Cancer Institute, National Institutes of Health, USA.
authors.forename: Michael
authors.initials: M
authors.lastname: Allgaeuer
authors.affiliation: Department of Pathology, Yale University School of Medicine, USA.
authors.forename: Dhanpat
authors.initials: D
authors.lastname: Jain
authors.affiliation: Department of Pathology, Yale University School of Medicine, USA.
authors.forename: Alexander
authors.initials: A
authors.lastname: Vortmeyer
authors.affiliation: Laboratory of Pathology, Center for Cancer Research, National Cancer Institute, National Institutes of Health, USA.
authors.forename: Hao-Wei
authors.initials: HW
authors.lastname: Wang
authors.affiliation: Section of Molecular Neurogenetics, National Human Genome Research Institute, USA. Electronic address: sidranse@mail.nih.gov.
authors.forename: Ellen
authors.initials: E
authors.lastname: Sidransky
mesh_terms: D000368:Aged; D001344:Autopsy; D004334:Drug Administration Schedule; D056947:Enzyme Replacement Therapy / Q000379:methods*; D005260:Female; D005776:Gaucher Disease / Q000150:complications* / Q000188:drug therapy* / Q000473:pathology; D006801:Humans; D008297:Male; D008875:Middle Aged; D020734:Parkinsonian Disorders / Q000473:pathology*; D016896:Treatment Outcome
keywords: Autopsy reports; Enzyme replacement therapy; Gaucher disease; Modifier genes