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Genetic Study in Young Onset Parkinson's Disease

Conditions
Parkinson Disease
Registration Number
NCT01529970
Lead Sponsor
China Medical University Hospital
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).

Detailed Description

Not available

Recruitment & Eligibility

Status
UNKNOWN
Sex
All
Target Recruitment
60
Inclusion Criteria
  • 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
Exclusion Criteria
  • Secondary parkinsonism

Study & Design

Study Type
OBSERVATIONAL
Study Design
Not specified
Primary Outcome Measures
NameTimeMethod
Secondary Outcome Measures
NameTimeMethod

Trial Locations

Locations (1)

China Medical University Hospital

🇨🇳

Taichung, Taiwan

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