0.9 mg/L in 6 patients.Kayser-Fleischer ring were found in 85.5 % of all the patients. The abnormal hepatic function in the liver type HLD was more common than that of in the brain type. The liver injury was detectable by B mote ultrasonic wave in different type HLD.MRI examination was taken in 79 patients, 65 of them had showed the symmetry abnormal signs in basal ganglia. Conclusions CP has independent diagnostic values when its content ≤0.08 g/L. Kayser-Fleischer ring is an excellent discriminatory test for the diagnosis of HLD patients with neurological or psychiatric symptom. 24 h urine copper is the best single screening test because it increases over 100 ?g/24 h in all patients who were taken the test. The B mote ultrasonic wave test for the liver and MRI for brain were helpful in detecting the damage in the liver and brain.

BACKGROUND: It is of great importance to study the genotype distribution of hereditary ataxia in understanding its epidemiologic rule and pathogenetic pathway.OBJECTIVE: To analyze the distribution of different genotype of hereditary ataxia in south China.DESIGN: A case-control observation.SETTING: Department of Neurology, the First Affiliated Hospital of Sun Yat-sen University.PARTICIPANTS: Forty-three patients (26 males and 17 females) with hereditary ataxia from 36 families and 38 patients with sporadic hereditary ataxia (24 males and 14 females) were selected from the Outpatient Clinic of Neurogenetics, Department of Neurology, the First Affiliated Hospital of Sun Yat-sen University between September 1998 and September 2002. At the same time, 60 healthy individuals from the patients' families and 44randomly-selected healthy physical examinees were taken as controls. All the participants were enrolled voluntarily.METHODS: The fragments of trinucleotide repeats at different sites of mutant genes were amplified with polymerase chain reaction (PCR), and then the lengths were calculated with polyacrylamide gel electrophoresis and imaging analytical software. The repeated numbers of trinucleotide repeats in all the normal and abnormal amplified alleles were calculated respectively.MAIN OUTCOME MEASURES: Different genotype distribution in patients with hereditary ataxia.RESULTS: All the subjects were involved in the analysis of results. Of the detected patients with hereditary ataxia, the Machado-Joseph disease/spinocerebellar ataxia (SCA) 3 was the most common type of autosomal dominant SCA in South China, which was 42.0%, and was followed by SCA2 (7.4%), SCA1 (4.9%), SCA7 (3.7%), SCA6 (2.5%), SCA12 (1.2%).No patient was detected to have SCA8 SCA 10, SCA 17 dentatorubropallidoluysian atrophy (DRPLA) and Friedreich ataxia (FRDA).CONCLUSION: Autosomal dominant SCA3 is the most familiar genotype in South China. Clinical detection of hereditary ataxia should be done firstly aiming at the SCA3 genotype.

Objective To explore the clinical features of paroxysmal autonomic nerve dysfunction after brain injury.Methods The clinical data of 22 patients with paroxysmal autonomic never dysfunction after brain injury were analysed retrospectively.Results The 22 patients were in vegetative state.The primary injury in 14 cases were severe traumatic brain injury,2 cases were cerebral or cerebellar hemorrhage and received evacution of hematoma,1 case was heroin toxic encephalopathy,2 cases were severe carbon monoxide poisoning,3 cases were hypoxic-ischemic encephalopathy after cardiopulmonary resuscitation(1 case with electrical injury,1case with coronary angiography and coronary stent implantation and 1 case with cardiac arrest due to anaesthetic accident).They had most of the symptoms such as paroxysmal agitation,hyperthemia,diaphoresis,tachypnea,tachycardia,hypertension,myodystonia and convulsion.No epileptic wave was found on EEG in the stage of attact.Latent period of physiological waves were prolonged and amplitudes were fallen down on brain auditory evoked potential(BAEP) and somatosensory evoked potential(SEP).The lesions in varied degrees were found in the cortex,subcortex,or brainstem by neuroimaging.The medicion such as dopamine agonist or antagonist,benzodiazepines and muscle relaxants were just focused on symptoms.There were 10 cases who got out of vegetative state eventually during 1 to 13 months after onset.Conclusions The clinical features of paroxysmal autonomic nerve dysfunction after brain injury are paroxysmal autonomic nerve dysfunction combining myodystony.The most of the severe patients are in vegetative state.The therapy is only focused on symptoms.

Objective To study the molecular genetic diagnosis and clinical characteristics of spinocerebellar ataxia type 6 (SCA6).Methods 43 patients with autosomal dominant SCA from 36 families and 38 sporadic SCA patients were enrolled in the study. SCA6 (CAG)n dynamic mutations were detected by polymerase chain reaction (PCR). Abnormal allele fragments were sequenced and repeated numbers were calculated. The clinical data of two cases with SCA6 were analyzed.Results CAG repeat of normal SCA6 allele ranged from 10 to 13. CAG repeat of abnormal SCA6 allele expanded to 25 in one familial patient and 24 in one sporadic patient in our study. The basic characteristics of these SCA6 patients were slowly progressive cerebellar ataxia, nystagmus and dysarthria.Conclusion Diagnosis of SCA6 can be confirmed by detection of abnormal CAG repeat expansion. There is no obvious difference of clinical features between SCA6 and other SCA subtypes.

Objective To investigate the function role and mechanism of p38 mitogen-activated protein kinase(p38MAPK) in up-regulating osteopontin mRNA expression in rat glomerular mesangial cells induced by interleukin-1?.Methods Activation of p38MAPK was detected with Western blotting,The effect of p38MAPK specific blockade SB203580 on the expression of osteoponlin mRNA in rat mesangial cells induced by interleukin-1? was measured with RT-PCR. Results interleukin-1? could activate p38MAPK in time- and dosage-dependent manner,and up-regulate osteopontin mRNA expression in rat glomerular mesangial cells. SB203580 obviously inhibited the up-regulation of osteopontin mRNA induced by interleukin-1? in dosage dependent manner. Conclusion p38MAPK may play an important role in the up-regulation of osteopontin in rat glomerular mesangial cells induced by interleukin-1?.

AIM: To investigate the expression and functional role of p38MAPK in the kidney after unilateral ureteral obstruction in rats. METHODS: Unilateral ureteral obstruction (UUO) models were induced by ligating the left ureter. Rats were sacrificed at 1 h, 3 h, 6 h, 12 h, 1, 3, 5, 7, 14, 21, and 28 days after UUO was initiated. p38MAPK activity was assayed by immunohistochemical staining and specific substrate phosphorylation with immunoprecipitation and Western blotting. TGF? mRNA and protein expression were analyzed with in situ hybridization and immunohistochemical stainning. RESULTS: A basic p38MAPK activity was detectable in the normal kidney(0.22?0.06). p38MAPK pathway was rapidly activated at 1 hour(0.45?0.14 vs control, P

Objective To evaluate functional activity of the subcortical nuclei in Wilson's disease (WD) using resting state functional MRI (rs-fMRI),and to evaluate damage to the functional conjunction in the extracorticospinal tract in WD patients.Methods Twenty-two patients with WD (between January 2015 and January 2016),including 18 with cerebral type and 4 with hepatic type,and 20 age-matched healthy controls were enrolled.Neurological symptoms were scored using the modified Young Scale.Patients with cerebral type WD were divided into 4 subgroups.All study subjects underwent rs-fMRI of the brain.The values of amplitude of low-frequency fluctuation (ALFF) and regional homogeneity (REHO) in the thalamus,caudate nucleus,putamen and globus pallidus were determined.The relationships between rsfMRI metrics and clinical status were evaluated.Results ALFF values were lower in the caudate nucleus,putamen and right thalamus of WD patients than in controls (t =-3.07,-3.00,-3.12,-2.46,-2.20;P =0.005,0.006,0.004,0.020,0.036),while REHO values were lower in the left caudate nucleus and left thalamus of WD patients (t =-2.38,-2.16;P =0.025,0.040).In the caudate nucleus (P =0.032,0.029,0.023),thalamus (P =0.022,0.041,0.035) ALFF values were lower in group 4 than in other groups.REHO values of the putamen (P =0.040,0.017,0.040) and thalamus (P =0.024,0.029 7,0.041) were higher in group 4 than in other groups.ALFF values in the caudate nucleus (t =-0.29,P=0.037),and thalamus (t =-1.77,P =0.042) were lower,and REHO values in the caudate nncleus (t =-1.46,P =0.040) were lower,in patients of cerebral type than in hepatic type patients.Conclusions The damage to the functional activity of the subcortical nuclei may occur in the WD patients.The functional activity of nuclei may be different between hepatic and cerebral type patients.Damage to the activity of neurons in the putamen and thalamus may correlate with psychiatric symptoms in WD patients.

Objective To investigate the characteristics of regional cerebral glucose metabolism in patients with fatal familial insomnia(FFI) using 18F-fluorodeoxyglucose(18F-FDG) PET. Methods Patient 1 with symptoms for 2 months and patient 2 with symptoms for 6 months were studied by brain 18 F-FDG PET.Compared with 20 normal controls, the data were analyzed by visual analysis at first, and then each patient was compared with age-matched normal controls using statistical parametric mapping( SPM ). Results As compared with 10 normal controls, metabolic changes in patient 1 was characterized by hypometabolism in thalamus, parietal cortices, caudate nucleus, pre-frontal cortices and posterior cingulate gyrus ( t ＞ 2. 82,P ＜0. 01 ). In patient 2, these changes were more obvious (t ＞ 2. 82, P ＜ 0. 01 ) with metabolic decrease also shown in temporal and occipital cortices ( t ＞ 2. 82, P ＜ 0. 01 ). Conclusion In FFI patients, brain metabolism changes are mainly manifested as hypometabolism in thalamus and cerebral cortex. The metabolic changes in cerebral cortex will be more widely spread with the development of FFI. 18F-FDG PET imaging was a valuable method to evaluate patients with FFI.

Objective To investigate the causative mutations of CYP27A1 gene in a sporadic cerebrotendinous xanthomatosis patient. Methods Genomic DNA was extracted from peripheral blood of the patient and her parents. All exons and splice sites of CYP27A1 gene were amplified by polymerase chain reaction (PCR) followed by Sanger sequenc-ing. 105 healthy unrelated subjects were also sequenced for the novel mutation in CYP27A1. Results A novel splice site mutation c.446+1G>T, a novel missense mutation c.877A>T(p.Met293Leu) and a known missense mutation c.1016C>T (p.Thr339Met) of CYP27A1 gene were identified in the patient. The mother carriers the two novel mutations and the fa-ther the c.1016C>T(p.Thr339Met) mutation. The two novel mutations were absent in 105 control subjects, respectively. Conclusions Our study detected two novel mutations, c.446+1G>T and c.877A>T, as well as a known mutation c.1016C>T, of CYP27A1 in a sporadic cerebrotendinous xanthomatosis patient. Our data provide novel information for the mutational spectrum of the gene, which is applicable in the genetic testing and diagnosis. The data also provide in-sight into the pathogenesis of the disease.

Objective To investigate the clinical manifestation, inherited pattern and the related factor of Hunting?ton disease families. Method The clinical data from 12 HD families was collected from 2013-2014. Patients received the genetic test and neurological evaluation including motor, cognitive and problem of behavior. Results There were 12 patients having the IT15 gene dynamic mutations, including 1 Juvenile Huntington disease patient and 3 pre-symptomat?ic mutant gene carriers. The average CAG repeats of these patients was between the range of 40 to 60, and the average on?set age ranged from 13 to 54 year-old. Positive family history and genetic anticipation could be observed. Patients pre?sented with different clinical manifestations at the early stage while had typical chorea movements, declined cognitive and psychiatric symptoms at the late stage of the illness. Conclusions There are typical triad symptoms in the late stage but not in the early stage nor pre-symptom stage illness. Clinical manifestation and the neuroimaging are both of great ref?erence value, and the genetic test is essential for final diagnosis.