PLA2G6 gene related early onset Parkinson syndrome with cerebellar atrophy: 3 cases report / 中华神经科杂志

To investigate the clinical features of patients with PLA2G6 gene related early onset Parkinson syndrome (EOP) with cerebellar atrophy, the clinical data of 3 hospitalized EOP patients with PLA2G6 gene mutation were collected in Xuanwu Hospital, Capital Medical University, and the clinical characteristics, imaging features and genetic testing results were comparatively analyzed. Related literatures were also reviewed. Cerebellar atrophy was observed on cranial magnetic resonance imaging in all 3 patients with Parkinson syndrome except for extrapyramidal symptoms. All 3 patients had heterozygous mutations of PLA2G6 gene, and the common mutation site of c.991G>T (p. D331Y) was found in 2 patients by second-generation sequencing. This report enlarges the clinical phenotypic spectrum of the disease and helps to better understand the disease.

Correlation between renin-angiotensin-aldosterone system gene polymorphisms and large artery atherosclerotic stroke: a study in a southem Chinese Han population / 国际脑血管病杂志

Objective To study the correlation between the renin-angiotensin-aldosterone system angiotensinogen (AGT) gene M235T,angiotensin Ⅱ type 1 receptor (AGTR1) gene Al166C,aldosterone synthase (CYP11B2) gene -344C/T polymorphisms and large-artery atherosclerotic (LAA) stroke in a southern Chinese Han population.Methods Polymerase chain reaction and gene sequencing technology were used for the genotyping in patients with LAA and normal controls with AGT gene M235T,AGTR1 gene A1166C,and CYP11B2 gene - 344C/T polymorphisms in a southern Chinese Han population,and to determine the correlation between the 3 gene polymorphisms and LAA by binary logistic regression analysis.Results A total of 107 patients with LAA and 142 healthy controls were included in the study.The frequencies of the AGT gene 253TT genotype (66.36％ vs.50.70％,x2 =6.122,P =0.047) and T allele (79.44％ vs.70.07％ ％,x2 =5.581,P =0.018) in the LAA group were significantly higher than those in the control group.The frequencies of the AGTR1 gene 1166CC genotype (0％ vs.0％,x2 =1.494,P =0.222) and C allele (7.48％ vs.4.93％,x2 =1.399,P =0.237) in the LAA group were no significantly differences with those in the control group.The frequencies of the CYP11B2 gene - 344CC genotype (9.35％ vs.4.23％,x2 =3.603,P =0.165) and C allele (27.10％ vs.26.06％,x2 =0.069,P =0.793) in the LAA group were no significant differences with those in the control group.Binary logistic regression analysis showed that there was no significant correlation between the three gene polymorphisms and the simple LAA diseases.The frequencies of AGT gene 235TT genotype (68.00％ vs.41.90％,x2 =12.446,P =0.002) and T allele (79.33％ vs.64.76％,x2 =8.993,P =0.003) in the LAA patients complicated with hypertension were significantly higher than those in the normotensive control group.Logistic regression analysis showed that the odds ratio (OR) exposed to TT genotype was 2.153 (95％ confidence interval [CI] 0.789-5.872).The OR of T allele was 2.089 (95％ CI 1.285-3.396).Conclusions The AGT gene M235T polymorphism is not associated with the simple LAA in the southern Chinese Han population,but it may be associated with the risk of LAA complicated with hypertension;CYP11B2 gene -344C/T polymorphism and AGTR1 gene A1166C polymorphism are not associated with the onset of LAA in the southern Chinese Han population.

The significance in diagnosing tuberculous meningitis by detecting specific antigen in cerebrospinal fluid / 中华神经科杂志

Objective To evaluate the detection of culture filtrate protein 10 (CFP10) and 6000 early secretory antigenic target (ESAT-6) in cerebrospinal fluid to be used in diagnosing tuberculous meningitis. Methods Dot enzyme linked immunosorbent assay ( Dot ELISA) method that was improved by applying concentrated cerebrospinal fluid was used to detect CFP10 and ESAT-6 in cerebrospinal fluid to analyze small protein antigen secreted by M. tuberculosis. Cerebrospinal fluid of 111 subjects were collected,in which 58 specimens were clinically diagnosed as tuberculous meningitis and 53 as non-tuberculous.CFP10 and ESAT-6 were detected in cerebrospinal fluid using Dot ELISA method and the results were analyzed. Results The sensitivities of detecting CFP10 and ESAT-6 antigen were 93.1% and 91.4% respectively, and the specificities were 92. 5% and 94. 3% respectively. The sensitivities and specificities are generally higher compared with the other methods of detecting M. tuberculosis or materials of M. tuberculosis by acid-fast staining or mycobacterium tuberculosis culture and polymerase chain reaction.Conclusions Using Dot ELISA method to detect CFP10 and ESAT-6 in cerebrospinal fluid to diagnose tuberculous meningitis has a high sensitivity and specificity. Our study provided the evidence of detecting the specific antigen of M. tuberculosis to be used in diagnosing tuberculosis.

Diagnosis of facioscapulohumeral muscular dystrophy using double enzyme digestion associated Southern blotting method / 中华神经科杂志

Objective To develop an operational gene diagnosis method for Chinese Facioscapulohumeral muscular dystrophy (FSHD) patients Methods Genomic DNAwas double digested with restriction enzymes EcoRⅠ/HindⅢ and EcoRI/BlnI,respectively The digested fragments were separated on a 0 6% agarose gel After transferred to a Nytran SuperCharge Membrane, the fragmented DNAs were hybridized with the probe p13E 11 The hybridizing fragments were analyzed by the software ImageMaster Total Lab v1 11 and the size of each band was then given Results Only a 4q35 EcoRI+HindIII/P13E 11 fragment larger than 33 kb was detected in each of the controls Two fragments were detected in each of the 33 FSHD patients, one of which was smaller than 33 kb Although there was also presence of two small alleles in the 3 other FSHD cases, either of them turned out to be 10q26 derived owing to its BlnI sensitivity Interestingly, we found a sporadic patient who carried three 4q35 type fragments and, strikingly, two of them were smaller than 33 kb In the analysis of FSHD family members, a 9 year old boy with no clinical signs was found to share the small fragment with his affected father, indicating that he may be a pre symptomatic patient Conclusion The double digestion associated Southern blotting method we developed can be applied to both the diagnosis of FSHD patients and the prediction of pre symptomatic patients Furthermore, by the gene detection using this method, we first got the evidence of translocation between 4q and 10q in Chinese FSHD patients, which may be helpful to the elucidation of the pathogenesis of FSHD