Article
Movement and mood disorder in two brothers with Gaucher disease.
Clinical genetics - 1 Oct 2007
Raja M, Azzoni A, Giona F, Regis S, Grossi S, Filocamo M, Sidransky E
Abstract excerpt
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...
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