Médecine Interne, Hôpital de la Pitié-Salpêtrière, Paris, France.
J Inherit Metab Dis. 2010 Aug;33(4):331-8. doi: 10.1007/s10545-010-9095-5. Epub 2010 Jun 2.
Gaucher disease (GD), the most prevalent inherited lysosomal storage disorder, is caused by deficient glucocerebrosidase activity. Type 1 GD (GD1), the most common variant, is classically considered non-neuronopathic.
We performed a national cross-sectional observational survey-the French Observatoire on Gaucher Disease (FROG)-in patients with GD1 between March 2005 and September 2006. The study included all patients over 18 years of age with confirmed GD1 who attended participating centers for regular follow-up.
One hundred and five patients were included, in whom we studied the prevalence and characteristics of relevant neurological symptoms associated with the neuraxis. Of these, 51 (49%) GD1 patients presented at least one neurological symptom. Four patients (4%) had Parkinson disease and 22 (21%) presented with at least one parkinsonian sign or at least one sign frequently associated with Parkinson disease. Five patients (5%) had a previous diagnosis of peripheral neuropathy. Other central nervous system symptoms were recorded in 20 (19%) patients and other peripheral nervous system symptoms in 39 (37%) patients.
These data challenge the current classification of GD, and suggest that the three forms of GD each involve a different profile of neurological manifestations.
戈谢病（GD）是最常见的遗传性溶酶体贮积病，由葡糖脑苷脂酶活性缺乏引起。最常见的变异类型 1 型 GD（GD1）通常被认为是非神经病变型。
我们在 2005 年 3 月至 2006 年 9 月期间开展了一项全国性的戈谢病观察性研究——法国戈谢病观察站（FROG），该研究纳入了 GD1 患者。研究纳入了所有在参与中心接受常规随访、确诊为 GD1 且年龄大于 18 岁的患者。
共纳入了 105 例患者，我们研究了与中枢神经系统相关的、具有神经轴相关性的相关神经症状的患病率和特征。其中，51 例（49%）GD1 患者存在至少一种神经症状。4 例（4%）患者患有帕金森病，22 例（21%）患者存在至少一个帕金森症体征或至少一个常与帕金森病相关的体征。5 例（5%）患者有周围神经病变的既往诊断。20 例（19%）患者记录了其他中枢神经系统症状，39 例（37%）患者记录了其他周围神经系统症状。
这些数据对目前的 GD 分类提出了挑战，并提示三种类型的 GD 各自涉及不同的神经表现特征。
