Movement and mood disorder in two brothers with Gaucher disease

M. Raja, A. Azzoni, F. Giona, S. Regis, S. Grossi, M. Filocamo, Ellen Sidransky

Research output: Contribution to journalArticlepeer-review


Gaucher disease (GD) is a lysosomal storage disorder with a wide spectrum of phenotypic presentations. We report the case histories of two adult brothers with GD who developed both parkinsonism and psychiatric symptoms. Direct sequencing and real-time polymerase chain reaction were used to establish that the patients were homozygous for mutation L444P. While parkinsonism has been described previously in GD, these patients had atypical features, including a complicated mood disorder. The comorbidity of GD and a mood disorder is a new finding, as psychiatric manifestations of GD have been described rarely. The etiology of the mental illness could be related to the processes contributing to the development of parkinsonism.

Original languageEnglish
Pages (from-to)357-361
Number of pages5
JournalClinical Genetics
Issue number4
Publication statusPublished - Oct 2007


  • Gaucher disease
  • Glucocerebrosidase
  • Mood disorder
  • Parkinsonism

ASJC Scopus subject areas

  • Genetics
  • Genetics(clinical)


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