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  • Title: Gaucher disease associated with parkinsonism: four further case reports.
    Author: Várkonyi J, Rosenbaum H, Baumann N, MacKenzie JJ, Simon Z, Aharon-Peretz J, Walker JM, Tayebi N, Sidransky E.
    Journal: Am J Med Genet A; 2003 Feb 01; 116A(4):348-51. PubMed ID: 12522789.
    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.
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