Çebi et al. Cytokine and TFH Activity in MG than those in the treated group, whereas the Tfh1 cells were decreased compared with those in the controls. The relevance of CXCR5 and PD-1 in the pathogenesis of AChR-MG was also suggested by the increased presence of these molecules on mature CD4 single-positive thymocytes from the thymic samples. The study provides further evidence for the importance of IL-21, IL-17A, IL-4, and IL-10 in AChR-MG. Disease-related CD4 + T cells are identified mainly as PD-1 + or ICOS + with or without CXCR5, resembling cTfh cells in the circulation or probably in the thymus. AChR-MG and SN-MG seem to have some similar characteristics. IS treatment has distinctive effects on cytokine expression.

Objectives: To explore the usefulness of vestibular tests including “ vestibular evoked myogenic potentials” (VEMPs) and the video head impulse test (vHIT) in the early diagnosis of “ idiopathic Parkinson’s disease” (PD). Materials and methods: The study involved 80 participants including 40 patients (24 males, 16 females; age average 63.20 ± 7.94 years) with PD and 40 healthy individuals (18 males and 22 females; age average of 60.36 ± 7.68 years). The Modified Hoehn and Yahr (H&Y) scale was used to measure how Parkinson’s symptoms progress and the level of disability. Patients with PD underwent cVEMPs, oVEMPs, and vHIT and the results were compared with those of 40 age-matched healthy control (HC) subjects. vHIT results and VEMP responses were registered in all patients and HCs. Results: One-sided absent cVEMP responses were found in 6 (15%) patients with PD and 8 (20%) patients had bilaterally absent responses. Five (12.5%) patients had 1-sided absent oVEMP responses and it was bilateral in 6 (15%). Patients with PD had significantly shorter cVEMP P1, N1 latency, lower cVEMP amplitudes, and oVEMP amplitudes than the HC group. The cVEMP and oVEMP amplitude asymmetry ratio was significantly higher in the PD group ( P < .05). Evaluation of vHIT results and vestibular-ocular reflex (VOR) gain between the groups revealed that anterior canal and posterior canal VOR gains results were remarkably lower in the PD group than in the HCs ( P < .05). There was no difference in right and left lateral canal VOR gains between the groups ( P > .05). Conclusion: The results of this study suggest that cVEMP and vHIT can be used to evaluate the vestibular system in patients with early-stage Parkinson’s disease.

The drop foot cases that are associated with developing neuropathies as a result of acute compartment syndrome or femoral artery ischemia after having cannulation for venoarterial extracorporeal membrane oxygenation (VA-ECMO) have been reported rarely in literature. In this case report, female patients who are 21 years old and developed drop foot depending on ECMO during the process of lung transplantation will be presented as both to be one of the rare neurological complications connected to ECMO and its possible causes will be analyzed.

Background and purpose Pathogenic variants in PLEKHG5 have been reported to date to be causative in three unrelated families with autosomal recessive intermediate Charcot‐Marie‐Tooth disease (CMT) and in one consanguineous family with spinal muscular atrophy (SMA). PLEKHG5 is known to be expressed in the human peripheral nervous system, and previous studies have shown its function in axon terminal autophagy of synaptic vesicles, lending support to its underlying pathogenetic mechanism. Despite this, there is limited knowledge of the clinical and genetic spectrum of disease. Methods We leverage the diagnostic utility of exome and genome sequencing and describe novel biallelic variants in PLEKHG5 in 13 individuals from nine unrelated families originating from four different countries. We compare our phenotypic and genotypic findings with a comprehensive review of cases previously described in the literature. Results We found that patients presented with variable disease severity at different ages of onset (8–25 years). In our cases, weakness usually started proximally, progressing distally, and can be associated with intermediate slow conduction velocities and minor clinical sensory involvement. We report three novel nonsense and four novel missense pathogenic variants associated with these PLEKHG5‐associated neuropathies, which are phenotypically spinal muscular atrophy (SMA) or intermediate Charcot‐Marie‐Tooth disease. Conclusions PLEKHG5‐associated neuropathies should be considered as an important differential in non‐5q SMAs even in the presence of mild sensory impairment and a candidate causative gene for a wide range of hereditary neuropathies. We present this series of cases to further the understanding of the phenotypic and molecular spectrum of PLEKHG5‐associated diseases.