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Trial record 2 of 4 for:    PINK1

Genetic Study in Young Onset Parkinson's Disease

The recruitment status of this study is unknown. The completion date has passed and the status has not been verified in more than two years.
Verified February 2012 by China Medical University Hospital.
Recruitment status was:  Active, not recruiting
Information provided by (Responsible Party):
Hui-Chun Huang, China Medical University Hospital Identifier:
First received: February 7, 2012
Last updated: February 8, 2012
Last verified: February 2012

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).

Parkinson Disease

Study Type: Observational
Study Design: Time Perspective: Cross-Sectional

Resource links provided by NLM:

Further study details as provided by China Medical University Hospital:

Estimated Enrollment: 60
Study Start Date: January 2012
parkinson's disease, young onset


Ages Eligible for Study:   20 Years to 70 Years   (Adult, Senior)
Sexes Eligible for Study:   All
Accepts Healthy Volunteers:   Yes
Sampling Method:   Probability Sample
Study Population
patients from China Medical University Hospital

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
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Please refer to this study by its identifier: NCT01529970

China Medical University Hospital
Taichung, Taiwan
Sponsors and Collaborators
China Medical University Hospital
  More Information

Responsible Party: Hui-Chun Huang, Attending Physician, China Medical University Hospital Identifier: NCT01529970     History of Changes
Other Study ID Numbers: DMR100-IRB-252
Study First Received: February 7, 2012
Last Updated: February 8, 2012

Additional relevant MeSH terms:
Parkinson Disease
Parkinsonian Disorders
Basal Ganglia Diseases
Brain Diseases
Central Nervous System Diseases
Nervous System Diseases
Movement Disorders
Neurodegenerative Diseases processed this record on April 28, 2017