Neuronopathic Gaucher disease (nGD) has a very wide clinical and genotypic spectrum. However, there is no consensus definition of nGD, including no description of how best to diagnostically separate the acute form—Gaucher type 2—from the subacute or chronic form—Gaucher type 3. In this article, we define the various forms of Gaucher disease with particular emphasis on the presence of gaze palsy in all patients with nGD. This consensus definition will help in both clinical diagnosis and appropriate patient recruitment to upcoming clinical trials.

中文翻译：

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神经元戈谢病的定义。

神经病戈谢病 (nGD) 具有非常广泛的临床和基因型谱。然而，对于 nGD 并没有一致的定义，包括没有描述如何最好地在诊断上将急性形式（戈谢 2 型）与亚急性或慢性形式（戈谢 3 型）区分开来。在本文中，我们定义了戈谢病的各种形式特别强调所有 nGD 患者都存在凝视麻痹。这一共识定义将有助于临床诊断和适当的患者招募到即将进行的临床试验。