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Hoffmann, R. A wiki for the life sciences where authorship matters. Nature Genetics (2008)
 
 
 
 
 

Clinical features and gene analysis in Korean patients with early-onset Parkinson disease.

BACKGROUND: Systematic analysis of clinical features and gene mutations has not been performed in Korean patients with early-onset Parkinson disease (PD). OBJECTIVE: To investigate the clinical characteristics and genetic background of Korean patients with early-onset PD. DESIGN: Clinical and genetic study. SETTING: University hospital. PATIENTS: Ninety-four patients with early-onset PD (mean +/- SD age at onset, 39.8 +/- 7.3 years) of 1100 patients with PD. INTERVENTIONS: Analysis of clinical characteristics and mutation analysis of the parkin and PTEN- induced kinase (PINK1) genes by direct sequencing and gene-dosage analysis using the multiplex ligation-dependent probe amplification technique. MAIN OUTCOME MEASURES: The correlation between age at onset and clinical characteristics and the clinical features of patients with onset before age 30 years vs patients with onset after age 30 years. RESULTS: Because age at onset was younger, levodopa-induced dyskinesia and off-dystonia were more frequently observed (P=.008). Patients affected before age 30 years showed more frequent levodopa-induced dyskinesia and off-dystonia (P=.002). We identified 3 patients (5%) with parkin gene mutations but none with the PINK1 mutation. CONCLUSIONS: Earlier onset of levodopa-induced dyskinesia and off-dystonia were characteristic features of early-onset PD, especially before an onset age of 30 years. However, parkin gene mutations were less frequent in these patients than in Japanese groups reported elsewhere.[1]

References

  1. Clinical features and gene analysis in Korean patients with early-onset Parkinson disease. Chung, E.J., Ki, C.S., Lee, W.Y., Kim, I.S., Kim, J.Y. Arch. Neurol. (2006) [Pubmed]
 
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