Movement and mood disorder in two brothers with Gaucher disease.
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.
Raja
M
M
Servizio Psichiatrico di Diagnosi e Cura, Ospedale Santo Spirito, Rome, Italy.
Azzoni
A
A
Giona
F
F
Regis
S
S
Grossi
S
S
Filocamo
M
M
Sidransky
E
E
D017668:Age of Onset; D004252:DNA Mutational Analysis; D005192:Family Health; D005776:Gaucher Disease / Q000150:complications* / Q000235:genetics*; D005838:Genotype; D006801:Humans; D016464:Lysosomal Storage Diseases / Q000378:metabolism; D008297:Male; D008875:Middle Aged; D019964:Mood Disorders / Q000150:complications / Q000235:genetics*; D009069:Movement Disorders / Q000150:complications / Q000235:genetics; D020734:Parkinsonian Disorders / Q000150:complications* / Q000235:genetics*; D010641:Phenotype; D016133:Polymerase Chain Reaction