Parkinson Disease Clinical Trial
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).
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Time Perspective: Cross-Sectional
Status | Clinical Trial | Phase | |
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Completed |
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||
Completed |
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||
Completed |
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Completed |
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