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OBJECTIVE@#To investigate the clinical characteristics and genetic variant in a Chinese pedigree affected with thiamine pyrophosphokinase deficiency (TPKD).@*METHODS@#Clinical data of the pedigree were analyzed retrospectively and summarized from the perspectives of clinical manifestation, magnetic resonance imaging (MRI), and genotype. Relevant literature was also reviewed.@*RESULTS@#The proband, a female, has developed paroxysmal ataxia with dystonia at the age of 2-year-and-8-month. The ataxia has recurred for 7-8 times. The child had died at 11 years old due to recurrence and aggravation of the disease. MRI showed diffuse symmetrical lesions of brain parenchyma and spinal cord. Her brother had similar symptoms and died at 6. The parents were consanguineous but healthy. Genetic testing revealed that the girl has carried homozygous c.161C>T variants of the TPK1 gene, suggesting the diagnosis of TPKD. So far 15 cases of TPKD have been reported, among which 9 were from consanguineous marriages. The disease usually occurs before the age of 3, and most patients had featured paroxysmal encephalopathy and recurrent infections. Symmetrical celebral cortex, basal ganglia and cerebellum lesions were common. Missense mutations of the TPK1 gene were common. Vitamin B1 was effective in some cases.@*CONCLUSION@#For infants featuring encephalopathy, ataxia, dystonia and other phenotypes, early genetic testing should be recommended in order to provide guidance for clinical treatment and genetic counseling.
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Child , Female , Humans , Infant , Male , China , Genetic Testing , Magnetic Resonance Imaging , Mutation , Pedigree , Retrospective Studies , Thiamin Pyrophosphokinase/geneticsABSTRACT
Objective:To study the effect of rehabilitation training on the expression of neuroglobin (Ngb), oxidative stress and axon regeneration in the cortex and explore possible mechanisms of functional recovery after cerebral infarction.Methods:Thirty-six male Sprague-Dawley rats were randomly divided into a sham operation group, a model group and a rehabilitation group. Cerebral infarction was modelled in the model and rehabilitation groups using Longa′s middle cerebral artery occlusion (MCAO) technique. The sham operation group received the same procedure except that no thread was inserted to block the middle cerebral artery. The rats in the rehabilitation group began treadmill training 24h after the operation, while the other two groups were left on the treadmill without training. On the 3rd, 7th and 14th days after the operation, all of the rats′ neurological functioning was assessed using modified neurological severity scores (mNSSs). After the last mNSS test, all of the rats were sacrificed and peri-infarct brain tissue was resected to detect the expression of Ngb and oxidative stress indicators including superoxide dismutase (SOD), nitric oxide and malondialdehyde (MDA), as well as neurofilament-200 (NF-200) indicating axon regeneration.Results:On the 3rd day after the surgery there was no significant difference between the average mNSS scores of the rehabilitation and model groups. On the 7th and 14th day the average mNSS score of the rehabilitation group was significantly better than that of the model group. The average expression of Ngb in the model group was significantly higher than in the sham operation group. After the intervention, the average expression of SOD in the rehabilitation group was significantly higher than in the model group, while NO and MDA expression were significantly lower. After the intervention the average expression of NF-200 in the rehabilitation group was also significantly higher than in the model group.Conclusions:Rehabilitation training benefits the recovery of neurological function after cerebral infarction, at least in rats. The mechanism may be related to the upregulation of Ngb, alleviation of oxidative stress and enhancement of axonal regeneration in the peri-infarct cortex.
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Objective To explore the clinical features of anti-Caspr2 antibody-associated encephalitis. Method The clinical data of anti-Caspr2 antibody-associated encephalitis in a child were retrospectively reviewed. Results A 5-year-old girl manifested as recent memory loss, irritability, cognitive impairment, hallucination, sleep disorders, and so on. The child had positive serum Caspr2 antibody, and was diagnosed with Caspr2 antibody encephalitis after exclusion of other diseases. The literature search retrieved 50 cases of Caspr2 antibody encephalitis with complete data, including 43 male cases and 7 female cases. The minimum onset age of the disease was 5 years in this case. In addition, 1 patient developed the disease at the age of 8, while the rest developed in adulthood. There were 32 cases (62.75％) of marginal encephalitis and 19 cases (37.25％) of morvan's syndrome. The most common clinical symptoms were impaired memory, epileptic seizures, and psychiatric symptoms such as anxiety, apathy, irritability, hallucinations or delusions, peripheral nerve hyperexcitability (PNH) , cerebellar ataxia and autonomic nervous disorders. Forty-four cases (86.27％) recovered or improved, 8 cases (15.69％) were complicated with tumors and 8 cases (15.69％) relapsed. Conclusion Caspr2 antibody encephalitis is relatively rare, especially in children. If the patient has marginal encephalitis symptoms, combining with PNH, ataxia and autonomic nerve symptoms, the possibility of Caspr2 antibody encephalitis should be considered.
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Objective To compare the difference in heart rate variability (HRV)between patients with dementia with Lewy bodies(DLB)and those with Parkinson disease dementia(PDD)and to identify the influencing factors.Methods We retrospectively enrolled 30 patients with DLB(DLB group)and 41 patients with PDD(PDD group)at the outpatient and inpatient services of our hospital from January 2010 to December 2017 in this study,and further recruited 119 normal elderly individuals to serve as the control group.HRV was recorded with 24 h dynamic electrocardiogram and compared between the DLB group and the PDD group.Time domain measures including standard deviation of all normal to normal(NN)intervals(SDNN)and square root of the mean squared differences of successive N N intervals(rMSSD)and frequency domain measures including total power(TP),low frequency(LF),and high frequency(HF)were analyzed with a customized program.The levodopa equivalent dose (LED),mini-mental state examination (MMSE),Montreal Cognitive Assessment (MoCA),Hoehn-Yahr stage(H-Y stage)and the unified Parkinson's disease rating scale Ⅲ (UPDRS Ⅲ),and the Alzheimer's disease Cooperative Study-Activities of Daily Living scale(ADCS-ADL)were assessed in DLB and PDD patients to investigate the influencing factors.Results SDNN,TP,and LF in the DLB group and the PDD group were significantly lower than in the control group (F =14.154,4.742,4.897,P＜0.05).Compared with the control group,rMSSD decreased in the DLB group,but had no significant difference in the PDD group(P＞0.05).The DLB group and the PDD group did not differ in HF from the control group (P ＞ 0.05).There was no significant difference in any HRV indexes between DLB and PDD patients(P ＞0.05).Correlation analysis showed no correlation of HRV with cognitive level(MMSE,MoCA),motor disturbance degree (UPDRS Ⅲ,H-Yahr stage),daily living ability(ADCS-ADL),or dosage of anti-PD drugs (each P ＞ 0.05).Conclusions DLB and PDD patients present similar impairments in autonomic nervous system function,which are not associated with disease severity.
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Objective:To study if embryonic stem cell derived dendritic cells(esDCs) could induce transplant tolerance to syngeneic neural progenitor cells ( NPCs) in ischemic rat brain.Methods:Neural progenitor cells ( NPCs) were differentiated from 129/svj pCX-eGFP ES-D3 embryonic stem cells and dendritic cells were directly differentiated from 129/svj ES-D3 respectively.All of SD rats were accepted MCAo surgery and subdivided in two groups based on pretreatment with or without esDCs through tail vein injection 1 week after MCAo.pCX-eGFP NPCs were then injected into the lateral ventricle of animals 2 weeks after MCAo.A proliferation assay of lymphocytes dissociated from cervical lymph nodes by MTT method,counting of the survival of the grafted cells, histological evaluation of CD4,CD8 and ED1 positive cells in brain and detection of mRNA level of IL-10 and IFN-γin ischemic lesions by reverse transcriptase-polymerase chain reaction(RT-PCR) were performed 2 weeks after graft (4 weeks after MCAo).Results:Pre-treatment with esDCs decreased CD4 positive cells infiltration (134.7 ±36.2 vs.198.8 ±59.6,P0.05).There was also no difference in lymphocytes proliferation (PI,1.245 ±0.211 vs.1.331 ±0.235) or mRNA expression level of IL-10 ( 1.147 ±0.260 vs.1.264 ±0.119 ) and IFN-γ( 1.697 ±0.273 vs.1.829 ±0.250 ) between two groups ( P>0.05).Conclusion:The results indicate that pretreatment with esDCs may prolong syngeneic NPCs survival though reducing CD4 positive cells reaction in ischemic striatum,which provides some evidence for the tolerogenic function of esDCs.However,there was lack of evidence for cytokine-dependent routine involving in this mode and further investigation was needed to make certain the cardinal principle.
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The article introduces the pathogenesis of genetic and acquired thrombophilia and elucidates the relationships among thrombophilia, pediatric stroke, adult ischemic stroke and cerebral venous thrombosis. Meanwhile, it briefly introduces the relationships between acquired thrombophilia and cerebrovascular diseases.