Gaucher disease associated with Parkinsonism: Four further case reports

Judit Várkonyi, Hanna Rosenbaum, Nicole Baumann, Jennifer J. MacKenzie, Zsuzsa Simon, Judith Aharon-Peretz, Jamie M. Walker, Nahid Tayebi, Ellen Sidransky

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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 parkinsonism 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 α-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.

Original languageEnglish
Pages (from-to)348-351
Number of pages4
JournalAmerican Journal of Medical Genetics
Volume116 A
Issue number4
DOIs
Publication statusPublished - Feb 1 2003

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Keywords

  • Enzyme replacement therapy
  • Genotype/phenotype correlation
  • Glucocerebrosidase
  • Parkinson disease

ASJC Scopus subject areas

  • Genetics
  • Genetics(clinical)

Cite this

Várkonyi, J., Rosenbaum, H., Baumann, N., MacKenzie, J. J., Simon, Z., Aharon-Peretz, J., Walker, J. M., Tayebi, N., & Sidransky, E. (2003). Gaucher disease associated with Parkinsonism: Four further case reports. American Journal of Medical Genetics, 116 A(4), 348-351. https://doi.org/10.1002/ajmg.a.10028