1. Movement and mood disorder in two brothers with Gaucher disease.
- Author
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Raja, M., Azzoni, A., Giona, F., Regis, S., Grossi, S., Filocamo, M., and Sidransky, E.
- Subjects
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GAUCHER'S disease , *ETIOLOGY of diseases , *EXTRAPYRAMIDAL disorders , *BRAIN diseases , *AFFECTIVE disorders , *POLYMERASE chain reaction , *COMORBIDITY , *MENTAL illness - 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. [ABSTRACT FROM AUTHOR]
- Published
- 2007
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