ObjectiveWe report two family and one sporadic case with dyssynergia cerebellaris myoclonica, investigate the clinical and neural electrophysiological features. MethodsThe proband and sporadic patient was examined by clinical, neuroimaging, video-EEG and synchronous electromyography. ResultsThere were 6 patients with dyssynergia cerebellaris myoclonica of the 27 family members in the first family(3 male and 3 female). There were 4 patients with dyssynergia cerebellaris myoclonica of the 20 family members in the second family(2 male and 2 female). All patiens had disproportionately myoclonus, epilepsy and progressive cerebellar ataxia. EEG showed bursts of spike-slow wave, polyspilke-slow wave distributing in the bilateral brain both in ictal and interictal period, sometimes it is especially in central, parietal and frontal area. EEG showed bursts of spike-slow wave, polyspilke-slow wave distributing in the central, parietal and frontal area in interictal period. Pathology of the skin and muscles are normal. ConclusionThe diagnosis of dyssynergia cerebellaris myoclonica was mainly based on typical clinical manifestations, brain MRI and EEG changes.Long time video EEG and synchronous EMG is important for the diagnosis. Skin and muscles pathology can be normal.
Cardiovascular disease is a severe threat to human health and life. Among many risk factors of cardiovascular disease, genetic or gene-based ones are drawing more and more attention in recent years. Accumulated evidence has demonstrated that the loss or mutation of ataxia telangiectasia mutated (ATM) gene can result in DNA damage repair dysfunctions, telomere shortening, decreased antioxidant capacity, insulin resistance, increased lipid levels, etc., and thus can promote the occurrence of cardiovascular risk factors, such as aging, atherosclerosis and metabolic syndrome. In this review, we discusses the possible mechanisms between ATM gene and cardiovascular risk factors, which could be helpful to the related research and clinical application.
This study aimed to explore the possible association between single nucleotide polymorphism (SNP) rs189037 C > T in the promoter region of ataxia telangiectasia mutated (ATM) gene and essential hypertension (EH). We performed a case-control study to collect randomly 369 hospitalized patients aged 50 years and above. They were divided into EH group (190 patients) and control group (179 subjects) according to the diagnostic criteria of hypertension. The SNP rs189037 genotyping was performed using polymerase chain reaction-restriction fragment length polymorphism. The genotype frequencies of ATM gene polymorphism rs189037 for the whole sample were 33.9% CC, 48.0% CT, and 18.1% TT. There was no significant difference in the genotype frequency distributions of the SNP rs189037 between EH and control groups (P=0.619). After adjustment of the major confounding factors, the SNP rs189037 was still not associated with EH (P > 0.05). We further analyzed data from different groups divided by genders and age respectively, and the relationship was retained (P > 0.05). In addition, we found that the percentage of the TT genotype was much lower in coronary artery disease (CAD) patients than those in the CC or CT genotype (OR=0.49, 95% CI=0.26~0.90, P=0.021). In conclusion, our study suggests that SNP rs189037 in the promoter of ATM gene is not associated with EH. But it is related to the incidence of CAD, and TT genotype seems to be a protective factor for CAD.
ObjectiveTo study the clinical characteristics of patients onset epilepsy Dentatorubral-pallidoluysian atropy (DRPLA) in Epilepsy Center of Guangdong 999 Brain Hospital and improve understanding of the disease. MethodsCollected five patients from August 2014 to August 2016 in Guangdong 999 Brain Hospital, whom diagnosed through genetic testing of DRPLA, analysed their disease course, family history, video-EEG, brain MRI and treatment data. ResultsDRPLA performed as neurodegenerative diseases, and epilepsy population mainly performed as progressive myoclonic epilepsy (Progressive myoclonus epilepsy, PME). ConclusionDRPLA is autosomal dominant neurodegenerative disease. In patients with cerebellar atrophy, neurological regression, ataxia, drug refractory epilepsy, it is recommended routinely to detect ATN1 gene, so that timely diagnosis and genetic counseling.
ObjectiveTo investigate the correlation between macular cherry red spot (CS) and severity of neurological manifestations in Chinese children with sialidosis (SD) type I. MethodsA evidence-based medical study. "China", "Sialidosis" and "Sialidoses" were used as Chinese and English search terms. The literature was searched in CNKI, Wanfang and PubMed. The cases were all from China and matched the diagnostic criteria. According to the presence or absence of CS in the fundus, the SD children were divided into a group with CS (+) and a group without CS (−), and the correlation between the occurrence of ocular CS and neurological manifestations was compared with meta-analysis by RevMan 5.3 software. ResultsSixty-eight studies were initially retrieved according to the search strategy, and 17 studies were finally included, and 5 studies with CS+ and CS− were meta-analyzed. Among the 43 patients, 28 were male and 15 were female, with a median age of 12 years. Visual impairment was observed in 37 cases (90.2%, 37/41, 2 cases not recorded), and CS was present in 24 cases (55.8%, 24/43). The most common neurological manifestation was myoclonus (97.7%, 42/43), followed by cerebellar ataxia (95.1%, 39/41, 2 cases not recorded) and seizures (91.4%, 32/35, 8 cases not recorded). Pathogenic NEU1 gene mutations were detected in 42 cases and one case was undocumented. The incidence of seizure in group CS+ (100%, 20/20) was higher than that in group CS− (80%, 12/15). Meta-analysis showed that there was no statistically significant difference between the incidence of myoclonus or ataxia [relative risk (RR)=1.13, 95% confidence interval (CI) 0.79-1.63, P=0.49] and seizure (RR=1.13, 95% CI 0.84-2.06, P=0.24) among the children in the CS+ and CS− groups. ConclusionsThe incidence of ocular CS in Chinese children with type I SD was 55.8%. There was no correlation with neurological manifestations, however the incidence of seizure was significantly higher in patients with CS than in others without CS.