ABSTRACT
Objective:To observe any improvement in hemiplegic upper limb functioning when transcranial direct current stimulation (tDCS) is combined with robot-assisted upper limb treatment, and analyze the potential mechanism of neural plasticity through diffusion tensor imaging (DTI).Methods:Twenty stroke survivors with hemiplegia were randomly divided into a treatment group and a control group, each of 10, according to a random number table. Both groups were treated with conventional medication and rehabilitation training using an upper limb robot, while the treatment group also received tDCS daily, with the current increasing from 0 to 1mA over 10 seconds, and then decreasing to 0 over twenty minutes. The experiment lasted for 15 days. The upper extremity portion of the Fugl-Meyer rating scale (UE-FMA) and the Wolf Motor Function Rating Scale (WMFT) were used to evaluate motor functioning before and after the treatment. DTI was also conducted for both groups.Results:After the treatment, the average UE-FMA and WMFT scores of the two groups were significantly higher than before the treatment, with the average UE-FMA score of the treatment group (35.32±13.25), significantly higher than that of the control group (21.80±13.93). After the treatment there were significant differences between the groups in their average FA, rFA and FAasy of the posterior limb of the internal capsule, as well as in FA and the CST length of the central anterior gyrus.Conclusion:tDCS combined with robot-assisted upper limb rehabilitation training can significantly improve the motor functioning of hemiplegic upper limbs, possibly due to neuroplasticity mechanisms that promote CST integrity and symmetry changes. tDCS can be an important adjunct therapy in clinical neurorehabilitation.
ABSTRACT
Objective:To investigate the clinical and genetic features of early-onset Alzheimer's disease(EOAD)and the characteristics of pathogenic mutations in probands and their families.Methods:Clinical and genetic features of three EOAD probands and their family members China were analyzed and summarized.Peripheral blood of three probands and their relatives was collected and the genes were detected by second generation sequencing(Next Generation Sequencing, NGS). Pathogenic mutations carried by the probands were identified by whole exome sequencing and then verified by Sanger sequencing in the probands and their families.Furthermore, the clinical and genetic characteristics of EOAD were discussed.Results:The first case was familial EOAD, with the heterozygous mutation c. 851C>T(p.P284L)in exon 8 of PSEN1.The second was also a case of familial EOAD, involving the heterozygous deletion mutation c. 497_499del(p.Ile167del)in exon 6 of PSEN1.In the third proband, there was no family history and the c. 626G>A(G209E)mutation was found in exon 7 of the PSEN1 gene.All three patients had memory loss as their first symptom, accompanied by clinical manifestations of slow movement, abnormal gait, unclear speech, bladder and bowel incontinence, psychiatric and other symptoms.Conclusions:These mutations represent additional mutation types and clinical manifestations in EOAD patients.Examining the genetic characteristics of PSEN1 in EOAD may contribute to the understanding of the pathogenesis, genetic classification and clinical diagnosis of EOAD.