Genetic Study in Young Onset Parkinson's Disease

China Medical University

Status: Unknown

Conditions: Parkinson Disease

Study type: Observational

Funder types: Other

Identifiers

NCT01529970

DMR100-IRB-252

Details and patient eligibility

About

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).

Enrollment: 60 estimated patients

Sex: All

Ages: 20 to 70 years old

Volunteers: Accepts Healthy Volunteers

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

Trial design

60 participants in 2 patient groups

parkinson's disease, young onset

Normal