Parkinson’s Disease
Conditions
Interventions
Observation group:N/A
Sponsors
Huashan Hospital, Fudan University
Eligibility
Sex/Gender
All
Age
18 Years to 90 Years
Inclusion criteria
Inclusion criteria: Inclusion Criteria for the GBA-PD Group 1.Clinically diagnosed Parkinson’s disease:From February 2012 to December 2015, diagnoses were made according to the United Kingdom Parkinson’s Disease Society Brain Bank diagnostic criteria.From December 2015 to March 2025, diagnoses were made based on the Movement Disorder Society (MDS) clinical diagnostic criteria for Parkinson’s disease.Participants are 18 to 90 years old, with no restriction on sex. All diagnoses were independently confirmed by at least three neurologists specialized in movement disorders. 2.Genetic testing:Patients who have undergone next-generation sequencing (NGS) and multiplex ligation-dependent probe amplification (MLPA) for Parkinson’s disease–related genes, and whose results were validated by long-range PCR, confirming a heterozygous GBA gene mutation. Inclusion Criteria for the GU-PD Group 1.Clinically diagnosed Parkinson’s disease:From February 2012 to December 2015, diagnoses were made according to the United Kingdom Parkinson’s Disease Society Brain Bank diagnostic criteria.From December 2015 to March 2025, diagnoses were made based on the Movement Disorder Society (MDS) clinical diagnostic criteria for Parkinson’s disease.Participants are 18 to 90 years old, with no restriction on sex. All diagnoses were independently confirmed by at least three neurologists specialized in movement disorders. 2.Genetic testing:Patients who have undergone next-generation sequencing (NGS) and multiplex ligation-dependent probe amplification (MLPA) for Parkinson’s disease–related genes, and no known pathogenic mutations or risk variants were detected.
Exclusion criteria
Exclusion criteria: Exclusion Criteria 1.Patients with Parkinson’s disease who have undergone deep brain stimulation (DBS) surgery. 2.Patients with Parkinson-plus syndromes. 3.Patients with secondary (symptomatic) Parkinsonism. 4.Patients with other central or peripheral nervous system disorders. 5.Patients with severe systemic medical conditions who are unable to tolerate clinical assessments. 6.Patients carrying other known pathogenic mutations or risk variants.
Design outcomes
Primary
| Measure | Time frame |
|---|---|
| Mental state; | — |
Secondary
| Measure | Time frame |
|---|---|
| MDS-UPDRS III Score;Standardized uptake value ratio; | — |
Countries
China
Contacts
Public ContactYimin Sun
Huashan Hospital, Fudan University
Outcome results
None listed