A review of type 3 Gaucher disease: unique neurological manifestations and advances in treatment
- PMID: 38413480
- DOI: 10.1007/s13760-024-02493-1
A review of type 3 Gaucher disease: unique neurological manifestations and advances in treatment
Abstract
Gaucher disease (GD) is a rare lysosomal storage disease that is caused by mutations in the GBA 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 GD3 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.
Keywords: GBA; Neuropathy of type 1 Gaucher disease; Neuropathy of type 3 Gaucher disease; Treatment; Type 3 Gaucher disease.
© 2024. The Author(s) under exclusive licence to Belgian Neurological Society.
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