The Studies On Parkin Gene Deletive Mutations Of Exons 1 To 7 Patients With Praecox Parkinson's Disease In GuangXi

Objectives: To study the association between the etiology and the deletive mutations of exons 1 to 7 on Parkin gene patients with praecox Parkinson's disease (PPD) in GuangXi and analyze the clinical features of PPD.Methods: 39 patients with PPD in GuangXi were studied,of whom 29 were male and 10 female. The genomic DNA in white blood cell was extracted from peripheral vein blood of patients with PPD; DNA was disolved in TE buffer; the deletive mutations of exons 1 to 7 on Parkin gene were identified by PCR amplification and agarose gel electrophoresis. At the same time, intra-contrast was performed in every sample. In the end, the above information was analyzed together with clinical featureds.Results: Out of the 39 patients with PPD, one had exon 5 deletion, Han nationality;another had exon 6 deletion,Yao nationality. Both the patients were male, and they had clinical symptoms after the age of 30, but no family history of Parkinson's disease(PD) was found. Nor evident differences in clinical features was found between the two patients just mentioned and the rest 37 patients with non-deletive mutation. All the patients with PPD had rest tremor, rigidity and bradykinesia. Among the 39, 21 patients,including the one with exon 6deletion took lower doses of artane and amantadine hydrochloride and the effects were quite good. While the other 18 patients, including the one with exon 5 deletion had been treated with levodopa or levodopa preparations orally for 6 months to 14 years without drug-induced movement disorders, on-off phenomenon and end of dose deterioration.Conelusions: Exon-deletive mutations of Parkin gene are probably related to part of PPD in GuangXi. There is no significant difference of exons 1 to 7 deletive mutations on Parkin gene in the patients with PPD between Han nationality and Yao nationality in GuangXi and nationalities of other regions. Exonic deletion of Parkin gene may occur in late-onset PPD patients. The patients with PPD are usually sensitive to artane and to amantadine hydrochloride. Levodopa or levodopa preparations-induced movement disorders, on-off phenomenon and end of dose deterioration occur less in the patients with PPD.