Shaoxing University, Shaoxing, 312000, Zhejiang, China.
Department of Hematology, Shaoxing People's Hospital, 568 Zhongxing North Road, Shaoxing, 312000, Zhejiang, China.
Acta Neurol Belg. 2024 Aug;124(4):1213-1223. doi: 10.1007/s13760-024-02493-1. Epub 2024 Feb 28.
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.
戈谢病（GD）是一种罕见的溶酶体贮积病，由 GBA 基因突变引起。根据患者的临床表现，该病可分为三种主要表型。其中，慢性神经病变型 GD（GD3）的特征是进行性神经损伤。了解 GD3 的独特神经表现具有重要的诊断和治疗意义。本文总结了 GD3 的特定神经症状和相关治疗进展，并强调了基因与临床症状的相关性，以期为 GD3 的诊断和治疗提供参考。
