帕金森病的远程评估支持戈谢病干预措施的持续发展。

IF 2.3 Q3 CLINICAL NEUROLOGY
Neurodegenerative disease management Pub Date : 2021-12-01 Epub Date: 2021-10-20 DOI:10.2217/nmt-2021-0032
Abigail Louise Higgins, Marco Toffoli, Stephen Mullin, Chiao-Yin Lee, Sofia Koletsi, Micol Avenali, Fabio Blandini, Anthony Hv Schapira
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引用次数: 2

摘要

GBA突变以双等位基因形式导致戈谢病,是帕金森病(PD)最常见的遗传危险因素。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。PD的前驱症状可能提供了一种预测潜伏病理的手段,在运动特征发生前几年。先前的研究报道了GBA突变携带者的PD前驱特征,然而,这对于识别那些将发展为PD的人来说还不够敏感。支持戈谢病干预措施持续发展的帕金森病远程评估(RAPSODI GD)研究评估了一大群GBA突变携带者,以帮助开发PD的早期诊断程序。
本文章由计算机程序翻译,如有差异,请以英文原文为准。
The remote assessment of parkinsonism supporting the ongoing development of interventions in Gaucher disease.

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.

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CiteScore
4.30
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