Evaluation of Tourette's syndrome by 99Tcm-TRODAT-1 SPECT imaging / 中华核医学杂志

Objective To observe dopamine transporter (DAT) binding capacity using 99Tcm-TRODAT-1 in drug-naive patients with Tourette's syndrome (TS) on SPECT imaging, and explore possible correlations between 99Tcm-TRODAT-1 uptake ratio and TS patient's age, disease duration, and tic severity.Methods Eighteen drug-naive TS patients, male 14, female 4, as well as 8 age- and gender-matched healthy subjects were recruited. Brain SPECT imaging was performed 2. 5 h after intravenous injection of 11.1 - 14.8 MBq/kg 99Tcm-TRODAT-1. ROI was drawn on the striatum including its sub-regions of caudate and putamen, with cerebellum as the background. Striatum/cerebellum ratio was calculated. Comparisons of the ratios between TS patients and controls were carried out by independent-sample t-test. Pearson correlation analysis was performed between DAT uptake ratios of striatum and patients' age, disease duration, tic severity. Results Compared with the control, higher symmetrically striatum uptake of 99Tcm-TRODAT-1 in TS patients was observed (2.17±0.23 vs 1.87±0.24, t =2.957, P＜0.05). Age (r= -0.320, P＞0.05)and tic severity(r = 0. 345, P ＞ 0.05) scores were not significantly correlated with specific uptake ratios measured in the striatum. But there was significant negative correlation between disease duration and the specific uptake ratios (r = - 0. 483, P ＜ 0. 05). Conclusions 99 Tcm-TRODAT-1 SPECT imaging may play an adjuvant role for initial evaluation of untreated TS.

Association of the polymorphism in alpha-2 macroglobulin gene with essential tremor and Parkinson's disease / 中华医学遗传学杂志

<p><b>OBJECTIVE</b>To study the association of two polymorphisms of alpha-2 macroglobulin gene (A2M), a 1000G/A in exon 24 and a pentanucleotide insertion/deletion (I/D) in the 5'splice site in exon 18, with Parkinson's disease (PD) and essential tremor (ET) in North China.</p><p><b>METHODS</b>Using polymerase chain reaction-restriction fragment length polymorphism (PCR-RFLP) method to investigate 87 cases of Parkinson's disease (PD),73 cases of ET and 100 randomly selected healthy control subjects.</p><p><b>RESULTS</b>(1) The allelic and genotypic distributions of A2M G/A were significantly different among the PD, ET patients and controls (P<0.05). The allele G and genotype GA in PD patients were significantly higher than those in ET patients or controls (P<0.05). There was no statistically significant difference between ET patients and controls in allelic and genotypic distribution (P>0.05). (2) The differences in allelic and genotypic distributions of A2M I/D among PD, ET patients and selected controls were found to be of no statistical significance (P>0.05).</p><p><b>CONCLUSION</b>(1) The polymorphism at the site of G/A might be associated with PD, but there might be no genetic association of polymorphism at this site with ET. (2) There might be no association of polymorphism at the site of I/D with PD and ET in North China.</p>

Study on relationship between CAG repeat in ITI5 gene and clinical phenotype of Huntington's disease / 中华神经科杂志

Objective To detect the relationship between CAG repeat in IT15 gene and clinical manifestations of Huntington's disease (HD).Methods Non-denaturing polyacrylamide gel electro- phoresis method was used to detect CAG repeat.Clinical manifestations were scored by UHDRS and MMSE. Results Genotypes of IT15 were heterozygous in all 29 HD patients.CAG repeat in the HD chromosome, being 42—62,13—28 in normal chromosome,was inversely correlated with age of onset (r=-0.539,P

Study on sleep disorders in patients with Parkinson' s disease by polysomnogram / 中华神经科杂志

Objective To observe the polysomnographic manifestation of sleep disorder and the characteristics of sleep architecture in patients with PD.Methods 42 patients with PD and 40 normal controls underwent night polysomnography.The parameters of sleep architecture and progress in two groups and video-monitoring features were analyzed.Results According to PSG recordings,the incidence of difficulties in the initiation of sleep(73.8%),fragmented sleep(59.5%),excessive daytime sleepiness (46.1%)were respectively increased in PD patients group than that in controls(all P5)、 ESS were increased(P=0.022,0.000,0.007, 0.001,0.000,respectively).SOREMPs occurred in 6 patients(14.3%)in PD group,but didn't oecure in controls.In PD group REM without atonia(RWA)was demonstrated in 36 patients(85.7%),RBD in 19 patients;in control group,however,REM in 6 and RBD in 2 separately.The statistics analysis showed the incidence of RWA(85.7%)and RBD(45.2%)in PD group was significantly higher than that in control group(P