Department of Neurodegeneration, Hertie-Institute for Clinical Brain Research, University of Tuebingen, Tuebingen, Germany.
German Center for Neurodegenerative Diseases (DZNE), Tuebingen, Germany.
Eur J Neurol. 2019 Apr;26(4):694-698. doi: 10.1111/ene.13776. Epub 2018 Sep 14.
Prevalence and time of occurrence of prodromal symptoms of Parkinson's disease (PD) in relation to the onset of classical motor manifestation varies between patients. Possible modifying factors might be different genetic architectures predisposing to varying burden of manifestations.
To characterize the prodromal phase in PD patients with heterozygous mutations in the GBA gene compared to PD patients without GBA mutation.
In a retrospective design, 151 participants [47 PD patients carrying a GBA mutation (PD ), 52 idiopathic PD patients (PD ), 52 healthy elderly (CON)] underwent a validated structured interview designed to assess prevalence and time of occurrence of prodromal symptoms.
PD showed a higher prevalence of prodromal symptoms and almost simultaneous occurrence of non-motor and early motor symptoms shortly before PD diagnosis whereas PD reported a longer prodromal phase starting with non-motor symptoms.
The short and severe prodromal phase in PD might call for shorter assessment intervals in yet premanifest GBA mutation carriers.
帕金森病（PD）前驱症状的出现频率和时间与经典运动表现的出现时间在不同患者之间存在差异。可能的修饰因素可能是导致表现负担不同的不同遗传结构。
与无 GBA 突变的 PD 患者相比，描述 GBA 基因突变的 PD 患者的前驱期特征。
在回顾性设计中，151 名参与者[47 名携带 GBA 突变的 PD 患者（PD ）、52 名特发性 PD 患者（PD ）、52 名健康老年人（CON）]接受了一项经过验证的结构化访谈，旨在评估前驱症状的发生率和出现时间。
PD 前驱症状的发生率较高，且非运动和早期运动症状几乎同时发生，在 PD 诊断前不久；而 PD 报告的前驱期较长，从非运动症状开始。
PD 前驱期短且严重，可能需要在 GBA 突变携带者尚未出现症状前进行更短的评估间隔。
