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Genetic Study in Young Onset Parkinson's Disease

The safety and scientific validity of this study is the responsibility of the study sponsor and investigators. Listing a study does not mean it has been evaluated by the U.S. Federal Government. Read our disclaimer for details. Identifier: NCT01529970
Recruitment Status : Unknown
Verified February 2012 by Hui-Chun Huang, China Medical University Hospital.
Recruitment status was:  Active, not recruiting
First Posted : February 9, 2012
Last Update Posted : February 9, 2012
Information provided by (Responsible Party):
Hui-Chun Huang, 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).

Condition or disease
Parkinson Disease

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Study Type : Observational
Estimated Enrollment : 60 participants
Time Perspective: Cross-Sectional
Study Start Date : January 2012

parkinson's disease, young onset

Information from the National Library of Medicine

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Ages Eligible for Study:   20 Years to 70 Years   (Adult, Older Adult)
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

Information from the National Library of Medicine

To learn more about this study, you or your doctor may contact the study research staff using the contact information provided by the sponsor.

Please refer to this study by its identifier (NCT number): NCT01529970

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China Medical University Hospital
Taichung, Taiwan
Sponsors and Collaborators
China Medical University Hospital
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Responsible Party: Hui-Chun Huang, Attending Physician, China Medical University Hospital Identifier: NCT01529970    
Other Study ID Numbers: DMR100-IRB-252
First Posted: February 9, 2012    Key Record Dates
Last Update Posted: February 9, 2012
Last Verified: February 2012
Additional relevant MeSH terms:
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Parkinson Disease
Parkinsonian Disorders
Basal Ganglia Diseases
Brain Diseases
Central Nervous System Diseases
Nervous System Diseases
Movement Disorders
Neurodegenerative Diseases