Aim In order to improver the diagnostic rate of Prion disease, solve the lacking sources of nature PrP antigen. ,synthesize the human PrP peptide, prepare the antibody to PrP peptide further. Method A synthetic peptide with the sequence identical to the 15 residues of human PrP, as described by Kretzschmar[1], was synthesized by the solid-phase method. The synthetic peptide was coupled to bovine serum albumin(BSA)by the method of EDCI〔2〕. The polypeptide combined with BSA was used as antigen to immunize the rabbit and detected by immunomethod. Result The PrP polypeptide combined with BSA obtained immunogenicity and anti-PrP synthetic peptide antiserum was successfully obtained. Conclusion The preparation and application of human PrP synthetic peptide can substitute for nature PrP antigen partly. It has laid a foundation for further preparation of monoclonal antibody to PrP and the study of Prion disease.

Objective To find an easy to do testing method to diagnose CJD in the early stage.Methods The values of NSE and S 100 protein in the serum and CSF of 10 cases of CJD, 10 cases of non CJD dementia and 10 cases of healthy control were measured by ELISA and sandwich ELISA.while the expression of PrP gene of CJD patients being detected.Results The values of NSE and S 100 protein in the serum and CSF of CJD patients were higher than those of non CJD dementia(all P

24 ng/ml,sensitivity and specificity were 90% and 92.9% respectively.Conclusions The diagnosis value of 14-3-3 protein in CSF is higher than that of NSE. The combination of CSF 14-3-3 protein and NSE can improve the sensitivity and specificity in diagnosis of CJD.

Objective To explore clinic,imageology and pathological characteristics of twin brothers with adrenoleukodystrophy(ADL).Methods Clinical data of twin brothers with ALD and pathological data of one case were analyzed retrospectively.Results Clinical manitestation of elder brother was cerebral ADL,T1-weighted of MRI with low intensity lesion and T2-weighted with high intensity lesion were shown widely in the parietooccipital and postero-corpus callosum white matter.The pathological changes were myelinopothy diffused in the parietooccipital white matter,but U fibber was maintained in the subcortex.Clinical manitestation of the young brother was shown spinal damage.His cerebral MRI was normal.Spinal MRI had shown spinal cord thinning,line-like equal signal was found in the periphery of the lesion.He might be juvenile adrenomyeloneuropathy.Conclusions Although the twin brothers are both suffer from adrenoleukodystrophy,their clinical manifestation,MRI and pathological changes are different.

Objective To investigate clinical manifestation and pathological changes and the expressions of Emerin protein and STA gene of Emery-Dreifuss muscular dystrophy (EDMD).Methods The clinical features and STA gene detection from one patient with EDMD were analyzed retrospectively. Results The onset age of this patient was in early childhood. The four limbs were progressive muscle weakness and muscular atrophy. There were joint contractures and cardiac involvement in the early stage. The serum muscle enzymes increased slightly. The pathological changes in muscles showed that the sizes of muscle fibers were different, the fibers became spherical and some fibers were replaced by fat. Because of normal spinal anterior horn cells and sural nerves, neurogenic muscular atrophy might be ruled out. Emerin protein could not be tested in striated muscle and cardiac muscle. No mutation of STA gene was found in this case. Conclusions Emery-Dreifuss muscular dystrophy is one particular type of muscular dystrophy. It is characterized with joint contractures and cardiac involvement in the early stage. Emerin protein is deficient in EDMD. There is no mutation of STA gene in sporadic EDMD.

Objective To identify the clinical characteristic of familial Creutzfeldt-Jakob disease(fCJD) in one pedigree with four cases in two-generation and to investigate its pathogenetic mechanism.Methods The pedigree was investigated in the fCJD kindred,protein capture assay was used to do quantitative analysis of 14-3-3 protein in the cerebrospinal fluid.Types of PrP gene mutation were studied by polymerase chain reaction(PCR) and DNA sequence analysis.Results(1) The onset age during four cases in two-generation was lower than the sporadic CJD and it tended to go down by generations.(2) The 14-3-3 protein level in the index case's cerebrospinal fluid was 125 ng/ml,which was higher than intersection point by 13.9 times.(3) In the index case,inserting mutation in site 231 of PRNP was induced by an adenine insertion between base 788 and 789.(4) No PrP gene mutation was found in the index case's younger brother and daughter.Conclusions The fCJD is identified in the index case,which is caused by inserting mutation in the site 231 of PRNP.There is no significant difference in the clinical manifestations between fCJD and sporadic CJD.However,the onset age of fCJD is lower than the sporadic CJD and patients from the same pedigree die at familiar ages.

Objective To explore the diagnostic value of quantitative test of 14-3-3 protein content in cerebrospinal fluid(CSF)in sporadic Creutzfeldt-Jakob disease(sCJD).Methods The Capture Assay was used to detect the level of CSF 14-3-3 protein in 14 cases of sCJD(sCJD group),10 cases of other dementia(OD group),12 cases of non dementia(ND group).Results The media of 14-3-3 protein content was 40.00 ng/mg in sCJD group,2.65 ng/mg in OD group,and 3.10 ng/mg in ND group,respectively.It was significantly higher in sCJD group than that in groups OD and ND(all P

Objectives To investigate the normal value of myelinated fibre (MF) of healthy human sural nerve. Methods By morphometric analysis on biopsy of 41 normal subjects’sural nerve, the density of MF, and the distribution and proportion of short and long diameters of MF were measured. Results The number of MF for each body had arange from 5 057 to 10 104, and the density of MF showed 5 250～11 413 mm 2. The distribution on diameter size of MF was found double peaked.Conclusions Following the age increase, the density of MF in Chinese people is substantially decreased. As compared with the study of some western countries, the results show that the density value of MF in our study is significant higher than those from the western countrics ( P =0 002 4).

Objective To verify a uncommon neurodegenerative disease accompanying with dementia--frontal lobe dementia, or dementia of frontal lobe type (DFT). Methods A brain sample was obtained from a patient of 46-year-old male with progressive dementia. Conventional neurohistopathological examination and immunostaining for prion protein (PrP) and tau protein were performed, and clinical data were analysed. Results (1) It was shown having progressive neurological and psychical symptoms and a three month illness duration. (2) Atrophy was found in bilateral frontal gray matter in CT scan. Slow waves of high amplitude with long intermission of two second in whole course of electroencephalography examination were seen. (3) Brain weight was 1 050 g. The cerebral cortex was atrophied and restricted to frontal lobes. The temporal lobes were unaffected. (4) A severe loss of nerve cells from second frontal cortical layer with glioses was revealed, but pyramidal cells in this region remained intact. There were no positive findings on staining of Beilschowky and Gallyas methods. (5) No inclusions were seen in remaining nerve cells and gliocyte. (6) Immunohistochemistry revealed no significant changes on PrP and tau protein.Conclusion This is more typical a case of DFT , and now increasingly recognized. It suggests that a dementia of frontal lobe type should be considered when differential diagnosis of neurodegenerative disease with dementia have been made.

Objective To evaluate the teased fibers and the consecutive internodes or segments of the same myeliated nerve fiber. Methods Measurements were performed on 1100 fibers (5522 internodal segment) from 11 control nerves as to detecting the anatomic features and pathologic abnormalities. Results Morphometric study on normal teased fibers revealed three results: (1) There is a certain variation of diameters (Ds) and length (IL) of the internodal segments along a fiber (1.0—2.5 ?m), and as a rule, the longest segment is not the thickest one, and the shortest segment is not the thinnest. Or even, sometimes the thinnest segment is the longest one in all internodal segments. (2) The relationship between IL and Ds is not linear, but shows a parabolic curve; thick segments are relatively shorter than the thinner segment. (3) The IL of segment along 10—20 mm of a fiber may be varied by maximally 50%; on the different IL, there is no casual distribution of internodal segments, but 2—4 (or even 6) segments of about equal length are grouped in a row. Conclusions On the classification of normal teased fibers, myelin of the internode may be ragular, irregular and variable in thickness among internodes.