title: Movement and mood disorder in two brothers with Gaucher disease.
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.
authors.affiliation: Servizio Psichiatrico di Diagnosi e Cura, Ospedale Santo Spirito, Rome, Italy.
authors.forename: M
authors.initials: M
authors.lastname: Raja
authors.forename: A
authors.initials: A
authors.lastname: Azzoni
authors.forename: F
authors.initials: F
authors.lastname: Giona
authors.forename: S
authors.initials: S
authors.lastname: Regis
authors.forename: S
authors.initials: S
authors.lastname: Grossi
authors.forename: M
authors.initials: M
authors.lastname: Filocamo
authors.forename: E
authors.initials: E
authors.lastname: Sidransky
mesh_terms: 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