A review of type 3 Gaucher disease: unique neurological manifestations and advances in treatment

AbstractGaucher disease (GD) is a rare lysosomal storage disease that is caused by mutations in theGBA gene. It is classified into three main phenotypes according to the patient ’s clinical presentation. Of these, chronic neuronopathic GD (GD3) is characterized by progressive neurological damage. Understanding the unique neurological manifestations of GD3 has important diagnostic and therapeutic implications. Our article summarizes the neurological symptoms specific to GD 3 and related therapeutic advances, and it highlights the relevance of the gene to clinical symptoms, so as to provide a reference for the diagnosis and treatment of GD3.
Source: Acta Neurologica Belgica - Category: Neurology Source Type: research