The remote assessment of parkinsonism supporting ongoing development of interventions in Gaucher disease
The remote assessment of parkinsonism supporting ongoing development of interventions in Gaucher disease
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DOI：
10.2217/nmt-2021-0032
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发表时间：
2021-10-20
影响因子：
2.6
通讯作者：
Schapira, Anthony H., V
中科院分区：
文献类型：
--
作者：
Higgins, Abigail Louise;Toffoli, Marco;Schapira, Anthony H., V
GBA中的突变是戈谢病的双等位基因形式的病因，是帕金森病（PD）最常见的遗传风险因素。PD的诊断依赖于不可逆神经变性后出现的临床定义的运动特征。帕金森病的前驱症状可能提供一种手段来预测潜在的病理，运动功能发作前几年。先前的工作已经报道了GBA突变携带者中PD的前驱特征，但是这对于识别那些将发展PD的人来说不够敏感。远程评估帕金森病支持持续发展的干预戈谢病（RAPSODI GD）研究评估了一个大队列的GBA突变携带者，以帮助开发程序的早期诊断PD.Lay摘要GBA基因的变化会导致一种罕见的疾病称为戈谢病，是帕金森病（PD）最常见的遗传风险因素。为了诊断PD，患者必须表现出运动障碍的症状，这种症状只发生在不可逆的脑细胞损失之后。早期症状可能允许在运动症状发生前数年预测PD。以前的工作已经报道了GBA变化的人发生PD的早期症状，但是这些研究还不能确定那些有发展PD风险的人。帕金森病远程评估支持戈谢病干预措施的持续发展（RAPSODI GD）研究评估了一大批GBA变化的人，以帮助开发早期诊断PD的方法。
Mutations in GBA which are causative of Gaucher disease in their biallelic form, are the most common genetic risk factor for Parkinson's disease (PD). The diagnosis of PD relies upon clinically defined motor features which appear after irreversible neurodegeneration. Prodromal symptoms of PD may provide a means to predict latent pathology, years before the onset of motor features. Previous work has reported prodromal features of PD in GBA mutation carriers, however this has been insufficiently sensitive to identify those that will develop PD. The Remote Assessment of Parkinsonism Supporting Ongoing Development of Interventions in Gaucher Disease (RAPSODI GD) study assesses a large cohort of GBA mutation carriers, to aid development of procedures for earlier diagnosis of PD.Lay abstract Changes in a gene called GBA cause a rare condition called Gaucher disease and are the most common genetic risk factor for Parkinson's disease (PD). To diagnose PD, patients must show symptoms of disordered movement which only occur after irreversible brain cell loss. Earlier symptoms may allow for the prediction of PD, years before movement symptoms occur. Previous work has reported earlier symptoms of PD occurring in people with GBA changes, however these studies have not been able to identify those at risk of developing PD. The Remote Assessment of Parkinsonism Supporting Ongoing Development of Interventions in Gaucher Disease (RAPSODI GD) study assesses a large group of people with GBA changes, to help develop a way to diagnose PD earlier.