title: Gaucher disease associated with parkinsonism: four further case reports.
abstract: Type 1 Gaucher disease is considered the non-neuronopathic form of this autosomal recessively inherited lysosomal storage disease. We report the simultaneous occurrence of Gaucher disease with parkinsonian in four adult patients. The patients had a relatively early onset of parkinsonian manifestations, and their disease was rapidly progressive and refractory to therapy. Each had a different Gaucher genotype, although four alleles carried the common N370S mutation. No mutations were identified in the genes for parkin or alpha-synuclein. The concurrence of these two phenotypes, both in this series of patients and in others in the literature, suggests a shared pathway, modifier, or other genetic etiology.
authors.affiliation: 3rd Department of Internal Medicine, Semmelweis University, Budapest, Hungary.
authors.forename: Judit
authors.initials: J
authors.lastname: Várkonyi
authors.forename: Hanna
authors.initials: H
authors.lastname: Rosenbaum
authors.forename: Nicole
authors.initials: N
authors.lastname: Baumann
authors.forename: Jennifer J
authors.initials: JJ
authors.lastname: MacKenzie
authors.forename: Zsuzsa
authors.initials: Z
authors.lastname: Simon
authors.forename: Judith
authors.initials: J
authors.lastname: Aharon-Peretz
authors.forename: Jamie M
authors.initials: JM
authors.lastname: Walker
authors.forename: Nahid
authors.initials: N
authors.lastname: Tayebi
authors.forename: Ellen
authors.initials: E
authors.lastname: Sidransky
mesh_terms: D000483:Alleles; D005260:Female; D005776:Gaucher Disease / Q000150:complications / Q000201:enzymology / Q000235:genetics*; D005838:Genotype; D006801:Humans; D007585:Jews / Q000235:genetics; D008025:Ligases / Q000235:genetics*; D008297:Male; D008875:Middle Aged; D009154:Mutation; D009419:Nerve Tissue Proteins / Q000235:genetics*; D020734:Parkinsonian Disorders / Q000150:complications / Q000201:enzymology / Q000235:genetics*; D010641:Phenotype; D051843:Synucleins; D044767:Ubiquitin-Protein Ligases; D051844:alpha-Synuclein
chemical_list: D009419:Nerve Tissue Proteins; C497604:SNCA protein, human; D051843:Synucleins; D051844:alpha-Synuclein; D044767:Ubiquitin-Protein Ligases; C111567:parkin protein; D008025:Ligases