Genetic Study in Young Onset Parkinson's Disease
1 other identifier
observational
60
1 country
1
Brief Summary
Parkinson's disease (PD) is the second most frequent neurodegenerative disorder after Alzheimer's disease. It causes motor dysfunctions, such as bradykinesia, resting tremor, rigidity and postural instability. Although PD appears to be sporadic in most cases, several causative genes and susceptibility factors have been identified that cause familial forms of the disease with Mendelian inheritance with autosomal dominant or autosomal recessive inheritance. Approximately 5\~10% of patients with the clinical picture of PD carry a mutation in one of the known genes that cause monogenic forms of the disorder. The average age at onset is between 60 and 80 years and the average age of diagnosis is 60 years. Onset of primary parkinsonism before 50 years is known as early onset parkinsonism(EOP). Onset between 20 and 50 years is known as young-onset PD. Onset at younger than 20 years is known as juvenile parkinsonism (JP). At least, 13 loci and 9 genes are reported. The investigators study is aimed to screen the clinical diagnosed familial EOP for the common mutation site by PCR/DNA sequencing. The gene for screen are Parkin (pattern: PARK2), PINK1 (pattern: PARK6) and ATP13A2 (pattern: PARK9).
Trial Health
Trial Health Score
Automated assessment based on enrollment pace, timeline, and geographic reach
participants targeted
Target at P25-P50 for all trials
1 active site
Health score is calculated from publicly available data and should be used for screening purposes only.
Trial Relationships
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Study Timeline
Key milestones and dates
Study Start
First participant enrolled
January 1, 2012
CompletedFirst Submitted
Initial submission to the registry
February 7, 2012
CompletedFirst Posted
Study publicly available on registry
February 9, 2012
CompletedFebruary 9, 2012
February 1, 2012
February 7, 2012
February 8, 2012
Conditions
Study Arms (2)
parkinson's disease, young onset
Normal
Eligibility Criteria
patients from China Medical University Hospital
You may qualify if:
- Idiopathic Parkinson's disease (according to UK Parkinson's Disease Society Brain Bank clinical diagnosis criteria)
- Onset before 50-year-old or positive family history
You may not qualify if:
- Secondary parkinsonism
Contact the study team to confirm eligibility.
Sponsors & Collaborators
Study Sites (1)
China Medical University Hospital
Taichung, Taiwan
MeSH Terms
Conditions
Condition Hierarchy (Ancestors)
Study Design
- Study Type
- observational
- Time Perspective
- CROSS SECTIONAL
- Sponsor Type
- OTHER
- Responsible Party
- PRINCIPAL INVESTIGATOR
- PI Title
- Attending Physician
Study Record Dates
First Submitted
February 7, 2012
First Posted
February 9, 2012
Study Start
January 1, 2012
Last Updated
February 9, 2012
Record last verified: 2012-02