Journal of Neurorestoratology最新文献

Restoring neurological dysfunctions is challenging in patients with the sequels of vertebral and spinal cord lesions. Current guidelines focus on treating the early stage of vertebral and spinal cord lesions, such as tethered cord syndrome, syringomyelia, spinal degenerative diseases, spinal infection, ankylosing spondylitis, myelitis, vertebral and spinal cord vascular malformations, and others, whereas the treatments of the sequels of those lesions have received limited attention. Restoring neurological dysfunctions and damaged structures caused by these lesions could improve patient quality of life. The Chinese Association of Neurorestoratology (Preparatory) and the China Committee of International Association of Neurorestoratology therefore proposed and approved this guideline providing the restorative therapeutic rules and references for physicians to treat patients with neurological dysfunction of sequels from vertebral and spinal cord lesions.

Non-progressive conditions that develop in the growing fetus or newborn brain and result in lifelong motor impairments and activity restrictions are collectively referred to as cerebral palsy. In the present review, recent advancements in the treatment of cerebral palsy are discussed. Studies are currently being conducted on high-tech aids such as telemedicine, robotics, virtual reality, telerehabilitation, and exoskeletons. In the current review, we focus on the effectiveness of interventions including neurologic music therapy, aquatic therapy, virtual reality, robotics, electrical stimulation, constraint-induced movement therapy, hippotherapy, and hyperbaric oxygen therapy. We also discuss the drugs used for the treatment of spasticity in cerebral palsy, as well as the effects of nutritional intake. Neurologic music therapy alongside physiotherapy leads to positive rehabilitation outcomes, as does treadmill gait training combined with robotics for lower limb improvements. Furthermore, kinesio taping is helpful for positioning the wrist, thumb, and fingers, and for reducing upper limb stiffness. Neurorestorative therapies such as cell therapy, brain–computer interface technology, and transcranial magnetic stimulation may also effectively restore neural networks in a positive direction in cerebral palsy. Finally, rehabilitation along with neurofeedback and biofeedback is considered helpful in patients with this neurological disorder.

Objective

To analyze the clinical manifestations and genetic examination results of affected members of two Chinese ATP1A2 gene variants pedigrees, and to summarize their phenotypic and genotypic features.

Methods

The clinical features were recorded in detailed. The cranial magnetic resonance imaging for patients and gene sequencing of two Chinese ATP1A2 gene variant pedigrees were perform. The correlation between the types of variants and the clinical phenotypes of ATP1A2 gene were analyzed.

Results

These two pedigrees are diagnosed as familial hemiplegic migraine type 2 (FHM2) with ATP1A2 heterozygous missense variants, c.1091C > T (p.T364M) found in pedigree 1 and c.899T > C (p.L300P) in pedigree 2. Multiple phenotypes coexist in both families, and the two probands have severe cranial magnetic resonance imaging manifesting hemiplegic contralateral cortical swelling and diffusion weighted imaging hyperintense signal, which can be fully recovered. ATP1A2 gene variants were seen in FHM2, sporadic hemiplegic migraine and atypical alternating hemiplegia of childhood (AHC) families or sporadic cases, etc. The clinical features of ATP1A2 variant c.1091C > T (p.T364M) are basically similar in Chinese patients and European patients.

Conclusion

These two Chinese pedigrees had FHM2 due to ATP1A2 heterozygous missense variation. It would expand the understanding of ATP1A2.

Objective

To study the effects and potential control mechanisms of the agrin signaling pathway on the repair of distal sciatic nerve damage.

Methods

50 Sprague-Dawleyrats were randomly allocated into the control group (SCI group, n = 25) and the treatment group (Treat group, n = 25). In both groups, the sciatic nerve damage model was created. Following surgery, the SCI group and the Treat group received intragastric administrations of normal saline and Jiawei Buyang Huanwu Decoction, respectively. The dose for both groups was 2mL/(kg·d) for 12 consecutive weeks. At 4, 8, and 12 weeks post-surgery, the wet-to-weight ratio of the gastrocnemius muscle in the two groups was assessed; and hematoxylin-eosin staining and Masson staining were used to detect pathological alterations in the sciatic nerve and collagen. The expression of agrin, Dag1, Dmd, and Lamb2 proteins in the agrin pathway, as well as ERK, MEK, and their corresponding phosphorylated proteins, p-ERK and p-MEK, were all detected by Western blot in the gastrocnemius muscle.

Results

The wet weight of the gastrocnemius muscle in the Treat group increased considerably (p < 0.05) after 4, 8, and 12 weeks following the operation compared to the SCI group, and it continued to rise over time. The expression level of Dag1, Dmd, and Lamb2 protein in agrin pathway, as well as p-ERK and p-MEK protein were all significantly lower than they were in the SCI group (p < 0.05). Additionally, Jiawei Buyang Huanwu Decoction greatly reduced the amount of nerve scars at the sciatic nerve injury and significantly healed sciatic neuropathy according to the results of pathological staining.

Conclusion

Jiawei Buyang Huanwu Decoction can inhibit the expression of agrin, Dag1, Dmd, and Lamb2, as well as p-ERK and p-MEK. It can effectively promote the distal repair of sciatic nerve injury probably through argin pathway.

Objective

To identify transcriptomic alterations and therapeutic drugs in different organs after spinal cord injury via comprehensive bioinformatics analyses.

Methods

RNA-sequencing data of the soleus muscle, bladder, liver, raphe, and sensorimotor cortex areas in various rat spinal cord injury models were obtained from the Gene Expression Omnibus database for bioinformatics analysis. Then, the common pathways and biological pathway changes in multiple organs were identified.

Results

By comparing the enrichment results of differentially expressed genes, inflammatory response and lipid metabolism were found to be significantly altered in multiple organs. The MAPK signaling pathway was a key pathway in the abovementioned biological processes. In addition, autonomous repair was observed in each organ. Finally, pharmacological analysis showed that coenzyme A might be an effective drug.

Conclusion

Coenzyme A is a candidate treatment drug for spinal cord injury. Hence, in addition to the current mechanisms targeted by anti-inflammatory approaches, lipid metabolism can also be a treatment target for spinal cord injury.

There was much progress in the field of Neurorestoratology in the year of 2022. It included highlighting advances in understanding the pathogenesis of neurological diseases, neurorestorative mechanisms, and clinical treatments as compiled in the 2022 yearbook of Neurorestoratology. There is still controversy about whether amyloid β-protein and tau protein deposition are the reasons for or the results of Alzheimer's disease (AD) pathology. The fabricated images in important key articles that speculated on the reasons for AD pathogenesis were found. Cholinergic deficiency and decrease or loss in strength of glutamatergic synapse, limited or failing bidirectional cholinergic upregulation in early cognitive impairment, or progressive posterior-to-anterior cortical cholinergic denervation could result in the appearance of AD. Exploration of neurorestorative mechanisms were found in more detail ways in neuromodulation, immunomodulation, neurogenesis, neural network or circuitry reconstruction, neuroprotection, nervous structural repair, and neuroplasticity. Several kinds of cell therapies for neurological diseases showed neurorestorative effects in open-label and/or non-randomized clinical studies or trials. However, mesenchymal stromal cells and mononuclear cells did not demonstrate neurorestorative effects or improve the quality of life for patients with neurodegenerative diseases or neurotrauma including stroke, spinal cord injury (SCI), and amyotrophic lateral sclerosis in randomized, double-blind, placebo-controlled clinical trials (RDPCTs). Clinical treatments through neurostimulation/neuromodulation and the brain–computer/machine interface yielded positive results in AD, Parkinson's disease, stroke, SCI, cerebral palsy, and other diseases in RDPCTs. Neurorestorative surgery, pharmaceutical neurorestorative therapy and other interventions have demonstrated neurorestorative effects for various considered incurable neurological diseases in RDPCTs. Thus, this year, additional guidelines, assessment scales, and standards were set up or revised. These included guidelines of clinical neurorestorative treatments for brain trauma (2022 China version), clinical cell therapy guidelines for neurorestoration (IANR/CANR 2022), SCI or dysfunction quality of life rating scale (SCIDQLRS) (IANR 2022 version). Neurorestorative effects of varying therapeutic strategies with higher standards of evidence-based medicine are now benefiting patients with currently incurable neurological diseases. Hopefully some of them may become routine therapeutic interventions for patients with these diseases in the near future.

Recent advances in upstream medical therapies for neuromuscular disorders suggest that the best outcomes result from their administration in the pre-symptomatic, and perhaps, neonatal period. Currently available therapies, and many other extremely expensive therapies in the pipeline soon to be considered by the Food and Drug Administration, and suggest the importance of avoiding potential life-threatening disease complications for patients to continue to benefit from these. There is evidence that this is almost always possible with the use of respiratory muscle aids to avoid pneumonias and respiratory failure, but these are currently little understood and rarely offered by the medical community. However, restoring neuromuscular function necessitates keeping the patient alive and well.