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Review
. 2024 Aug;124(4):1213-1223.
doi: 10.1007/s13760-024-02493-1. Epub 2024 Feb 28.

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

Wei Zhong  1 , Dan Li  2 , Yue Fei  1 , Pan Hong  3
Affiliations
Review

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

Wei Zhong et al. Acta Neurol Belg. 2024 Aug.

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.

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References

    1. Beavan MS, Schapira AHV (2013) Glucocerebrosidase mutations and the pathogenesis of Parkinson disease. Ann Med 45:511–521. https://doi.org/10.3109/07853890.2013.849003 - DOI - PubMed
    1. Grabowski GA, Zimran A, Ida H (2015) Gaucher disease types 1 and 3: phenotypic characterization of large populations from the ICGG gaucher registry. Am J Hematol 90:S12–S18. https://doi.org/10.1002/ajh.24063 - DOI - PubMed
    1. Grabowski GA (2008) Phenotype, diagnosis, and treatment of Gaucher’s disease. Lancet 372:1263–1271. https://doi.org/10.1016/s0140-6736(08)61522-6 - DOI - PubMed
    1. Gary SE, Ryan E, Steward AM, Sidransky E (2018) Recent advances in the diagnosis and management of Gaucher disease. Expert Rev Endocrinol Metab 13:107–118. https://doi.org/10.1080/17446651.2018.1445524 - DOI - PubMed - PMC
    1. Goker-Alpan O, Schiffmann R, Park JK et al (2003) Phenotypic continuum in neuronopathic Gaucher disease: an intermediate phenotype between type 2 and type 3. J Pediatr 143:273–276. https://doi.org/10.1067/s0022-3476(03)00302-0 - DOI - PubMed

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