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

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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.

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Acknowledgements

The authors thank LetPub (www.letpub.com) for its linguistic assistance during the preparation of this manuscript.

Funding

This work was supported by the Zhejiang Medical and Health Science and Technology Plan Project (Grant Nos. 2021KY1137 and 2023RC290).

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Authors and Affiliations

  1. Shaoxing University, Shaoxing, 312000, Zhejiang, China

    Wei Zhong & Yue Fei

  2. Department of Hematology, Shaoxing People’s Hospital, 568 Zhongxing North Road, Shaoxing, 312000, Zhejiang, China

    Dan Li & Pan Hong

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  1. Wei Zhong
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  2. Dan Li
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  3. Yue Fei
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  4. Pan Hong
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Contributions

WZ: concept, literature search, methodology, manuscript preparation, manuscript editing, and review. DL: validation, investigation, and resources. YF: literature search and methodology. PH: concept, design, manuscript review, and project administration.

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Correspondence to Pan Hong.

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Zhong, W., Li, D., Fei, Y. et al. A review of type 3 Gaucher disease: unique neurological manifestations and advances in treatment. Acta Neurol Belg (2024). https://doi.org/10.1007/s13760-024-02493-1

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