The Basic Study Of The Gene And Neural Stem Cells Transplantation Therapy In Primary Torsion Dystonia

Part1The gene of primary torsion dystonia[Objective]Study the genetic pedigrees of a family including a patient with primary torsiondystonia(PTD) and his parents. Analyze the relationship between the mutant gene and theclinical manifestations.[Methods]A patient with PTD (male,18years old) hospitalized in neurosurgery department ofNavy General Hospital in July2008and his parents (both are52years old) were enrolledin this clinical trial. The parents did not manifest muscle dystonia symptoms. At the sametime, another PTD patient (male,17years of age) and a healthy adult (male,18years old)were included in the study. Their genes acted as a control. All of them permitted doctorsto draw5ml blood. Then everybody’s DNA genome was extracted from the blood. Andsome target genes were amplified through PCR and sequenced. At last, mutation pointswere labeled and the relationship between gene mutations and clinical manifestationswas analyzed.[Results]DYT1mutation(904-906/907-909GAG deletion mutation) was found in one PTDpatient’s and his mother’s DNA. His father’s gene was normal. This patient’s clinicalmanifestations were consistent with the gene mutation type. The genes acted as a controlwere normal.[Conclusion]DYT1gene mutation is one of PTD’s pathogenic genes and its penetrance declines. Part2The clinical study of neural stem cellstransplantation therapy in PTD[Objective]To observe the clinical effect of the treatment of a patient with PTD(DYT1type)with transplantation of human NSCs.[Methods]A patient with PTD hospitalized in neurosurgery department of Navy GeneralHospital in July2008was selected for the study. He is a18-year old man whosesymptoms set on from the left leg at5years age. Then his symptoms gradually extendedto the whole body. Genetic testing revealed a mutation in the DYT1gene(907-909delGAG). The patient underwent stereotactic surgery to implant NSCs in sites by bilaterallateral cerebral ventricles at July3,2008. No operation-associated complicationshappened. Postoperative follow-up included evaluation of his neurological function withinternational Burke-Fahn-Marsden muscle dystonia motor score(BFMDMS) and neuralimaging examination (CT、MRI、PET/CT). BFMDMS’s improvement rate at4yearspostoperatively equaled (preoperative score-postoperative score)/preoperative score×100%.[Results]The patient did not have cerebral hemorrhage, infection, tumors and othercomplications. The inpatient time was4~5d.Before surgery, after1year,2years,3years and4years of the surgery, theBFMDMS was21,18,17,15,13, respectively. After4years of the surgery, theimprovement rate of BFMDMS was38.1%. Compared with the preoperative imagingexamination, no significant changes were found in the postoperative CT or MRIexamination, but postoperative brain PET scans showed that glucose metabolism inNSCs transplantation area was increased.[Conclusion]During the4-year follow-up period, NSCs transplantation had some clinical effecton the patient with PTD(DYT1-positive). So the PTD patients’ motor function andquality of life were improved.