Gaucher disease with parkinsonian manifestations: Does glucocerebrosidase deficiency contribute to a vulnerability to parkinsonism?

N. Tayebi, J. Walker, B. Stubblefield, E. Orvisky, M. E. LaMarca, K. Wong, H. Rosenbaum, R. Schiffmann, B. Bembi, E. Sidransky

Research output: Contribution to journalArticlepeer-review

216 Scopus citations

Abstract

Among the phenotypes associated with Gaucher disease, the deficiency of glucocerebrosidase, are rare patients with early onset, treatment-refractory parkinsonism. Sequencing of glucocerebrosidase in 17 such patients revealed 12 different genotypes. Fourteen patients had the common "non-neuronopathic" N370S mutation, including five N370S homozygotes. While brain glucosylsphingosine levels were not elevated, Lewy bodies were seen in the four brains available for study. The shared clinical and neuropathologic findings in this subgroup suggest that the deficiency in glucocerebrosidase may contribute to a vulnerability to parkinsonism.

Original languageEnglish (US)
Pages (from-to)104-109
Number of pages6
JournalMolecular Genetics and Metabolism
Volume79
Issue number2
DOIs
StatePublished - Jun 1 2003
Externally publishedYes

Keywords

  • Gaucher disease
  • Genotype/phenotype correlation
  • Glucocerebrosidase
  • Lewy body
  • Metaxin
  • Modifier gene
  • Parkinsonism

ASJC Scopus subject areas

  • Endocrinology, Diabetes and Metabolism
  • Biochemistry
  • Molecular Biology
  • Genetics
  • Endocrinology

Fingerprint Dive into the research topics of 'Gaucher disease with parkinsonian manifestations: Does glucocerebrosidase deficiency contribute to a vulnerability to parkinsonism?'. Together they form a unique fingerprint.

Cite this