Parkinson Disease Clinical Trial
Official title:
The Chinese Parkinson's Disease With LRRK2 Variants Registry
The purpose of the Chinese PD-LRRK2 Registry(CPD-LRRK2R) is to develop a database of patients of Parkinson's disease with leucine-rich repeat kinase 2 (LRRK2) gene variants in mainland China.
Parkinson's disease (PD) is the second most common disorder among neurodegenerative diseases.
LRRK2 missense mutations are the most common known genetic cause of PD. However, some
polymorphisms of LRRK2 such as G2385R and R1628P can also affect the risk of developing PD.
The investigators aim to establish a database of PD with LRRK2 variants and characterize the
clinical manifestation of these patients in mainland China.
Method:
1. Peripheral blood from patients has been tested to have LRRK2 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.
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