Genetic Study in Young Onset Parkinson's Disease

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).

Study Overview

• Status: Unknown
• Conditions: Parkinson Disease

• Study Type: Observational
• Enrollment (Anticipated): 60

Contacts and Locations

Study Locations

• Taiwan
  • Taichung, Taiwan
    • China Medical University Hospital

Participation Criteria

Eligibility Criteria

• Ages Eligible for Study: 20 years to 70 years (Adult, Older Adult)
• Accepts Healthy Volunteers: Yes
• Genders Eligible for Study: All

• Sampling Method: Probability Sample

Study Population

patients from China Medical University Hospital

Description

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 Plan

How is the study designed?

Number of groups / cohorts

2

Cohorts and Interventions

Group / Cohort
Normal
parkinson's disease, young onset

Collaborators and Investigators

• Sponsor: China Medical University Hospital

Study record dates

Study Major Dates

• Study Start: January 1, 2012

Study Registration Dates

• First Submitted: February 7, 2012
• First Submitted That Met QC Criteria: February 8, 2012
• First Posted (Estimate): February 9, 2012

Study Record Updates

• Last Update Posted (Estimate): February 9, 2012
• Last Update Submitted That Met QC Criteria: February 8, 2012
• Last Verified: February 1, 2012

More Information

Terms related to this study

• Additional Relevant MeSH Terms: Brain Diseases; Central Nervous System Diseases; Nervous System Diseases; Parkinsonian Disorders; Basal Ganglia Diseases; Movement Disorders; Synucleinopathies; Neurodegenerative Diseases; Parkinson Disease
• Other Study ID Numbers: DMR100-IRB-252