Search

Yan Sun, Lumi Zhang, Ping Liu, Guoping Peng Department of Neurology, The First Affiliated Hospital, Zhejiang University School of Medicine, Hangzhou, People’s Republic of ChinaCorrespondence: Guoping Peng, Department of Neurology, The First Affiliated Hospital, Zhejiang University School of Medicine, #79 Qingchun Road, Hangzhou, Zhejiang Province, 310003, People’s Republic of China, Tel +86 13588150613, Email guopingpeng@zju.edu.cnAbstract: Frontotemporal lobar degeneration (FTLD) is a group of neurodegenerative diseases with heterogenous clinical, genetic, and pathological characteristics that show similar impairment of areas in the frontal and/or temporal lobes. Prime doctors’ lack of awareness of this complex disease makes early identification and accurate intervention difficult. Autoimmune diseases and autoantibodies are manifestations of different levels of autoimmune reactions. This review presents research findings examining the relationship between autoimmunity and FTLD in terms of autoimmune diseases and autoantibodies with a focus on identifying potential diagnosis and treatment approaches. The findings indicate that the same or similar pathophysiological mechanisms may exist from clinical, genetic, and pathological perspectives. However, the existing evidence is not sufficient to extract substantial conclusions. On the basis of the current situation, we propose future research patterns using prospective studies on large populations and combined clinical and experimental research. Autoimmune reactions or, more generally, inflammatory reactions should receive increased attention from doctors and scientists of all disciplines.Keywords: frontotemporal lobar degeneration, autoimmunity, autoimmune disorders, autoantibodies, diagnosis, treatment

Additional file 10: Figure S10. The original images of all western blot assays.

BackgroundRapid-onset dystonia parkinsonism (RDP) is a rare disease caused by ATP1A3 mutation with considerable clinical heterogeneity. Increased knowledge of RDP could be beneficial in its early diagnosis and treatment.ObjectiveThis study aimed to summarize the gene mutation spectrum of ATP1A3 associated with RDP, and to explore the correlation of ATP1A3 variants with RDP clinical phenotypes.MethodsIn this study, we reported two RDP patients from a family with a novel inherited ATP1A3 variant. Then, we reviewed and analyzed the available literature in English focused on ATP1A3-causative RDP. A total of 35 articles covering 15 families (59 patients) and 36 sporadic RDP cases were included in our analysis.ResultsThe variant A813V (2438C>T) in ATP1A3 found in our cases was a novel mutant. Delays in diagnosis were common, with a mean delay time of 14 years. ATP1A3 had distinct RDP-related mutation hotspots, which consisted of exon8, 14, 17, and 18, and the most frequently occurring variants were T613M and I578S. Approximately 74.5% of patients have specific triggers before disease onset, and 82.1% of RDPs have stable symptoms within 1 month. The incidence rates of dystonia and bradykinesia are 100 and 88.1%, respectively. The onset site varied and exhibited a rostrocaudal gradient distribution pattern in 45% of patients with RDP. Approximately 63.6% of patients had mild improvement after receiving comprehensive interventions, especially in gait disturbance amelioration.ConclusionIn patients with acute and unexplained dystonia or bradykinesia, gene screening on ATP1A3 should be timely performed. When a diagnosis has been made, treatments that may be effective are to be attempted. Our study would be helpful for the early diagnosis and treatment of ATP1T3-related RDP.

Ping Liu,1 Yunyun Wang,1,2 Yan Sun,1 Guoping Peng1 1Department of Neurology, the First Affiliated Hospital, Zhejiang University School of Medicine, Hangzhou, People’s Republic of China; 2Department of Neurology, Shengzhou People’s Hospital, Shaoxing, People’s Republic of ChinaCorrespondence: Guoping Peng, Department of Neurology, the First Affiliated Hospital, Zhejiang University School of Medicine, #79 Qingchun Road, Hangzhou, Zhejiang Province, 310003, People’s Republic of China, Tel +86 13588150613, Email guopingpeng@zju.edu.cnAbstract: Although amyloid-β (Aβ) peptide accumulation is considered as a key early event in the pathogenesis of Alzheimer’s disease (AD), the precise pathophysiology of this deadly illness remains unclear and no effective remedies capable of inhibiting disease progression have been discovered. In addition to deposition of extracellular Aβ plaques and intracellular neurofibrillary tangles, neuroinflammation has been identified as the third core characteristic crucial in the pathogenesis of AD. More and more evidence from laboratory and clinical studies have suggested that anti-inflammatory treatments could defer or prevent the occurrence of AD. In this review, we will discuss multifaceted evidence of neuroinflammation presented in AD and the newly emerged anti-inflammatory targets both in pre-clinical and clinical AD.Keywords: Alzheimer’s disease, neuroinflammation, disease‐modifying therapy, anti-inflammatory treatment

There are different forms of abnormal vibration and abnormal noise of the EMU, involving many types of components, and many components cannot be judged through visual inspection, and some components cannot even be visually inspected. This article analyzes the characteristics of different types of vibration or abnormal sounds, and provides suggestions for troubleshooting and treating measures to guide subsequent similar failures.

Aim To investigate the characteristics of the peripheral T cell immune response of patients at different stages of vascular cognitive impairment (VCI). Methods 61 Arterial atherosclerotic cerebral infarct induced VCI patients, including 28 vascular dementia (VaD) cases, 33 no dementia (VCI-ND) cases, and 25 atherosclerotic cerebral infarct patients with normal cognitive function (CI-NC) as controls were enrolled. Peripheral CD8+T, CD4+CD25+ Treg, CD4+IL-17+ Th17 cells proportion, and IL-1β, IL-2, IL-6, IFN-γ levels, and neuropsychological function were assessed. Results There was no difference in average age, gender ratio, years of education, and risk factors of infarct among the three groups. Peripheral CD4+CD25+ Treg in VCI-ND and VaD groups were significantly lower than that in controls, and CD8+ T cells were markedly elevated in VaD group. The IL-17+ Th17 cell proportion did not differ significantly among three groups. IL-6 and IFN-γ expression levels in VaD group were higher than those in other two groups. The VDAS-Cog executive function subscale score was negatively correlated with CD4+CD25+ Treg proportion in VCI patients, and positively correlated with IL-6 levels. Conclusion VCI patients demonstrated a decrease in peripheral CD4+ Treg proportion and increased IL-6 expression, and both parameters were correlated with the decline of executive functions.