조기발병형 파킨슨병과 Parkin유전자이상에 관한 연구 = (A)study on the relationship between young-onset Parkinson's disease and Parkin gene abnormalities

다국어 초록 (Multilingual Abstract)

Recent increment of aged people in Korea accompanies an increasing number of patients with Parkinson's disease, which is one of the most common neurodegenerative disease. The etiology and pathogenesis of Parkinson's disease are still obscure.
Previous efforts to identify genetic risk factors for Parkinson's disease have focused primarily on autosomal dominant or recessive forms in some families. There is no genetic studies in patients with young-onset Parkinson's disease in Korea except one case report so far. In this study, I performed genetic analysis to identify mutations on parkin gene in 12 young-onset Parkinson's disease patients and compared with those of 16 late-onset Parkinson's disease and 12 healthy controls. I screened all 12 exons of parkin gene with conventional polymerase chain reaction (PCR) method to define the genetic characteristics of Korean sporadic young-onset Parkinson's disease.
We studied 12 patients with sporadic Parkinson's disease which was begun younger than 40 years of age. The clinical informations included age, disease onset age, clinical characteristics, duration of treatment, medications and response to treatment, and family history of movement disorder or other types of neurodegenerative diseases from the subject and underwent detailed neurological examination.
The mean onset-age of YOPD patients was 35.7 years of age and the mean duration was 9.8 years. The most common presenting sign at onset was resting tremor. Other features such as dystonia, sleep benefit, and hyper-reflexia, which are characteristic in young-onset Parkinson's disease were not as common as with previous reports. Patients with young-onset Parkinson's disease showed relatively slow progression of the disease, good reponse to levodopa treatment, earlier presentation of levodopa-induced dyskinesia and wearing-off phenomenon. There were 7 patients who showed parkin gene mutation. The exon 5 deletion was found in 4 patients and 3 patients had both exon 5 and exon 10 deletions of parkin gene. On the contrary, only 2 of 16 late onset Parkinson patients have parkin gene mutations where both were on exon 5.
In conclusion, mutations of the parkin gene are more frequent among patients with young-onset Parkinson's disease than late onset Parkinson's disease. Characteristic abnormalities were exon 5 and exon 10 deletion. Although a slow rate of disease progression, good response to levodpa, and earlier presentation of levodopa-induced motor complicaitons are characteristic features of patients with parkin gene mutation in young-onset Parkinons' disease, there is no characteristic clinical difference which can distinguish YOPD patients from patients with late-onset Parkinson's disease or patients without parkin gene mutation. This results suggest that the parkin gene mutation in YOPD may have an important role for earlier manifestation of the disease or in contrast with LOPD, the YOPD has a different genetic background with respect to etiology.

목차 (Table of Contents)

• 목차
• Ⅰ. 서론 = 1
• Ⅱ. 연구 대상 및 방법 = 14
• Ⅲ. 결과 = 19
• Ⅳ. 고찰 = 26
• ABSTRACT = 32
• Ⅴ. 참고문헌 = 35
• 부록 = 46