Movement and mood disorder in two brothers with Gaucher disease

Clin Genet. 2007 Oct;72(4):357-61. doi: 10.1111/j.1399-0004.2007.00863.x.

Abstract

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.

Publication types

  • Case Reports
  • Research Support, N.I.H., Intramural

MeSH terms

  • Age of Onset
  • DNA Mutational Analysis
  • Family Health
  • Gaucher Disease / complications*
  • Gaucher Disease / genetics*
  • Genotype
  • Humans
  • Lysosomal Storage Diseases / metabolism
  • Male
  • Middle Aged
  • Mood Disorders / complications
  • Mood Disorders / genetics*
  • Movement Disorders / complications
  • Movement Disorders / genetics
  • Parkinsonian Disorders / complications*
  • Parkinsonian Disorders / genetics*
  • Phenotype
  • Polymerase Chain Reaction