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Movement and mood disorder in two brothers with Gaucher disease
Author(s) -
Raja M,
Azzoni A,
Giona F,
Regis S,
Grossi S,
Filocamo M,
Sidransky E
Publication year - 2007
Publication title -
clinical genetics
Language(s) - English
Resource type - Journals
SCImago Journal Rank - 1.543
H-Index - 102
eISSN - 1399-0004
pISSN - 0009-9163
DOI - 10.1111/j.1399-0004.2007.00863.x
Subject(s) - parkinsonism , mood , etiology , mood disorders , medicine , psychiatry , bipolar disorder , comorbidity , disease , movement disorders , pediatrics , spectrum disorder , anxiety
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.