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.
摘要：
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将其分为三种主要表型。其中,慢性神经特发性GD（GD3）的特征是进行性神经损伤。了解GD3的独特神经系统表现具有重要的诊断和治疗意义。我们的文章总结了GD3特有的神经症状和相关的治疗进展，它强调了基因与临床症状的相关性，为GD3的诊断和治疗提供参考。
