Chinese PD-GBA Registry
关键词
抽象
描述
Parkinson's disease (PD) is the second most common disorder among neurodegenerative diseases. GBA gene variants such as L444P can influence the risk of developing PD and these variants have the greatest impact on PD susceptibility among all the PD related gene variants yet discovered. The investigators aim to establish a database of PD with GBA variants and characterize the clinical manifestation of these patients in mainland China.
Method:
1. Peripheral blood from patients has been tested to have GBA gene variants.
2. Clinical manifestation will be measured by scales and neurological tests. Standard scales include: Unified Parkinson's Disease Rating Scale(UPDRS), Hoehn-Yahr stages, Non-Motor Symptoms Scale (NMSS), mini-mental state examination (MMSE), Parkinson disease sleep scales (PDSS), Rapid Eye Movement Sleep Behaviour Disorder Questionnaire(RBDQ-HK), Epworth Sleepiness Scale (ESS), Rome III functional constipation scale, the Scale for Outcomes in PD for Autonomic Symptoms (SCOPA-AUT), Parkinson Fatigue Scale (PFS), Cambridge-Hopkins Restless Legs Syndrome questionnaire (CHRLSq), Hyposmia rating scale(HRS), Hamilton depression scale, the 39-item Parkinson's Disease Questionnaire(PDQ-39), Freezing of gait scale(FOG), dyskinesia related scales, Wearing-off scale(WO).
3. The investigators will also exam the blood biomarkers of PD such as uric acid and peripheral inflammatory markers.
日期
最后验证: | 03/31/2018 |
首次提交: | 04/30/2018 |
提交的预估入学人数: | 04/30/2018 |
首次发布: | 05/13/2018 |
上次提交的更新: | 05/23/2018 |
最近更新发布: | 05/28/2018 |
实际学习开始日期: | 01/31/2017 |
预计主要完成日期: | 01/31/2027 |
预计完成日期: | 01/31/2027 |
状况或疾病
相
资格标准
有资格学习的性别 | All |
取样方式 | Non-Probability Sample |
接受健康志愿者 | 是 |
标准 | Inclusion Criteria: - Patients diagnosed with PD by the United Kingdom Parkinson's Disease Society Brain Bank clinical diagnostic criteria or other standard criteria; PD patients detected with GBA gene variants. Exclusion Criteria: - |
结果
主要结果指标
1. Database of Parkinson's disease with GBA variants [10 years]
2. Clinical feature [10 years]