| Objective To detect Parkin gene deletion mutations and deletion mutations rate and the distribution of deletion mutations exons 4,6,7,10 in Chinese early-onset Parkinson's disease(PD)(onset age≤50 years old), later-onset PD (onset age>50 years old) , familial PD and PD patient's I grade healthy relatives and healthy subjects controls. To explore the role of Parkin gene deletion mutations in the pathogenesis of PD as well as the association with the clinical features, the effects of left-dopamine and Posteroventral pallidotomy and Thalamotomy. Methods 216 PD patients had accepted Posteroventral pallidotomy and Thalamotomy with stereotactic microelectrode recording from June, 2001 to June, 2003 in our department. All patients were divided into early-onset group (n=88) and later-onset group (n=128) according to the age. According to the familial heredity history were divided into sporadic PD (n=180) and familial PD (n=36) respectively. Every I grade healthy relatives of all patients (n=216) and 60 out-patients healthy subjects were included as controls. Every rpatients were assessed by means of Unified Parkinson's Disease Rating Scale (UPDRS) and left-dopamine test before and after the operation during "on" and "off' states. Genomic NDA was extracted from peripheral white blood cell of 216 PD and every controls group with standard procedures. Deletion mutations of parkin gene at exons 4,6,7,10 were identified by polymerase chain reaction (PCR) amplification andagarose gel electrophoresis, and these clinical data were analysis and summary together with the above information. To compare parkin gene exon deletion mutations rate of early-onset PD and later-onset PD, matched the prevalence of parkin gene deletion mutations of sporadic PD group and familial PD group. Summary the clinical features of PD with parkin gene exon deletion mutations. To compare the effects of the operations of PD with parkin gene exon deletion mutations and with parkin gene exon no deletion mutations, results 13 cases were found to have parkin gene exon deletion mutations in 216 PD patients. Deletion mutations rate was 6.02% (13/216) . Of the 88 early-onset sporadic PD patients, 3 were found to be the carrier of exon deletion mutations: exon 4 , exon 6 and exon 7 in one patient separately. The age of onset was 40,45,47 respectively, the mean age of the patients with deletion mutations was 44.0 3.6years. Deletion mutations of parkin gene at exons 4,6,7 and 10 were not found in later-onset sporadic PD patients. Deletion mutations of parkin gene at exons 4,6,7 and 10 were not found in All of the PD patient's I grade healthy relatives and normal control group also. But 8 had exon 4 deletion mutations and 2 had exon 6 and exon 7 deletion mutations in the familial PD patients separately (n=36) . One of 6 cases belong to early-onset familial PD, The age of onset was 22,28,35,35,37,49 respectively, the mean age of the patients with deletion mutations was 34.3 9.1 years. 4 cases were present in the group of later-onset familial PD, The age of onset was 58,62,62,67 years respectively, the mean age of the patients with deletion mutations was 62.0 3.9 years. In addition the deletion mutations of parkin gene at exon 10 was not found in all of PD patients. The prevalence of parkin gene exon 4 ,6,7 deletion mutations (27.78%) in familial PD was significantly greater than that of sporadic PD (l-.67%) , there is significant difference (P<0.01) . The deletion mutations rate of exon 4 was 4.17% (9 / 216) , but the deletion mutations rate of exon 6 and exon 7 only was 0.09% (2 / 216) . The rate of parkin gene exon4,6,7 deletion mutations was 60.00% (6/10) in early-onset familial PD, but it only was 3.85 % (3 / 78) in early-onset sporadic PD, to compare two groups results find the former was significantly higher thanthe latter, there is significant difference (p<0.01) . All of the patients with parkin gene deletion mutations almost had same clinical feather, such as tremor, rigidity and bradykinesia. All patients...
|
PDF Full Text Request