Journal of Neurorestoratology最新文献

{"title":"Research on the distal repair effect of Jiawei Buyang Huanwu Decoction on sciatic nerve injury through agrin signaling pathway","authors":"Huifen Shen,&nbsp;Lili Zhu,&nbsp;Huiying Du,&nbsp;Deqiang Wang,&nbsp;Yinping Bao,&nbsp;Chuanguang Ju","doi":"10.1016/j.jnrt.2023.100058","DOIUrl":"10.1016/j.jnrt.2023.100058","url":null,"abstract":"<div><h3>Objective</h3><p>To study the effects and potential control mechanisms of the agrin signaling pathway on the repair of distal sciatic nerve damage.</p></div><div><h3>Methods</h3><p>50 Sprague-Dawleyrats were randomly allocated into the control group (SCI group, <em>n</em> = 25) and the treatment group (Treat group, <em>n</em> = 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.</p></div><div><h3>Results</h3><p>The wet weight of the gastrocnemius muscle in the Treat group increased considerably (<em>p</em> &lt; 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 (<em>p</em> &lt; 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.</p></div><div><h3>Conclusion</h3><p>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.</p></div>","PeriodicalId":44709,"journal":{"name":"Journal of Neurorestoratology","volume":"11 2","pages":"Article 100058"},"PeriodicalIF":3.3,"publicationDate":"2023-06-01","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"49375121","PeriodicalName":null,"FirstCategoryId":null,"ListUrlMain":null,"RegionNum":4,"RegionCategory":"医学","ArticlePicture":[],"TitleCN":null,"AbstractTextCN":null,"PMCID":"","EPubDate":null,"PubModel":null,"JCR":null,"JCRName":null,"Score":null,"Total":0}

{"title":"Transcriptome alterations and therapeutic drugs in different organs after spinal cord injury based on integrated bioinformatic analysis","authors":"Haoru Dong ,&nbsp;Donglei Shi ,&nbsp;Yifeng Bao ,&nbsp;Xingyu Chen ,&nbsp;Longnian Zhou ,&nbsp;Haiyue Lin ,&nbsp;Yuanqing Ding ,&nbsp;Jinping Liu ,&nbsp;Jian Yu ,&nbsp;Rong Xie","doi":"10.1016/j.jnrt.2023.100056","DOIUrl":"10.1016/j.jnrt.2023.100056","url":null,"abstract":"<div><h3>Objective</h3><p>To identify transcriptomic alterations and therapeutic drugs in different organs after spinal cord injury via comprehensive bioinformatics analyses.</p></div><div><h3>Methods</h3><p>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.</p></div><div><h3>Results</h3><p>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.</p></div><div><h3>Conclusion</h3><p>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.</p></div>","PeriodicalId":44709,"journal":{"name":"Journal of Neurorestoratology","volume":"11 2","pages":"Article 100056"},"PeriodicalIF":3.3,"publicationDate":"2023-06-01","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"48475533","PeriodicalName":null,"FirstCategoryId":null,"ListUrlMain":null,"RegionNum":4,"RegionCategory":"医学","ArticlePicture":[],"TitleCN":null,"AbstractTextCN":null,"PMCID":"","EPubDate":null,"PubModel":null,"JCR":null,"JCRName":null,"Score":null,"Total":0}

{"title":"The 2022 yearbook of Neurorestoratology","authors":"Hongyun Huang ,&nbsp;John R. Bach ,&nbsp;Hari Shanker Sharma ,&nbsp;Hooshang Saberi ,&nbsp;Sang Ryong Jeon ,&nbsp;Xiaoling Guo ,&nbsp;Ashok Shetty ,&nbsp;Ziad Hawamdeh ,&nbsp;Alok Sharma ,&nbsp;Klaus von Wild ,&nbsp;Dario Siniscalco ,&nbsp;Paul R. Sanberg ,&nbsp;Yong Hu ,&nbsp;Mengzhou Xue ,&nbsp;Lin Chen ,&nbsp;Fabin Han ,&nbsp;Ali Otom ,&nbsp;Jianzhong Hu ,&nbsp;Qiqing Zhang","doi":"10.1016/j.jnrt.2023.100054","DOIUrl":"10.1016/j.jnrt.2023.100054","url":null,"abstract":"<div><p>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.</p></div>","PeriodicalId":44709,"journal":{"name":"Journal of Neurorestoratology","volume":"11 2","pages":"Article 100054"},"PeriodicalIF":3.3,"publicationDate":"2023-06-01","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"46902377","PeriodicalName":null,"FirstCategoryId":null,"ListUrlMain":null,"RegionNum":4,"RegionCategory":"医学","ArticlePicture":[],"TitleCN":null,"AbstractTextCN":null,"PMCID":"","EPubDate":null,"PubModel":null,"JCR":null,"JCRName":null,"Score":null,"Total":0}

{"title":"What advances in upstream medical therapies inform neurorestoratology","authors":"John R. Bach","doi":"10.1016/j.jnrt.2023.100049","DOIUrl":"10.1016/j.jnrt.2023.100049","url":null,"abstract":"<div><p>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.</p></div>","PeriodicalId":44709,"journal":{"name":"Journal of Neurorestoratology","volume":"11 2","pages":"Article 100049"},"PeriodicalIF":3.3,"publicationDate":"2023-06-01","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"45771161","PeriodicalName":null,"FirstCategoryId":null,"ListUrlMain":null,"RegionNum":4,"RegionCategory":"医学","ArticlePicture":[],"TitleCN":null,"AbstractTextCN":null,"PMCID":"","EPubDate":null,"PubModel":null,"JCR":null,"JCRName":null,"Score":null,"Total":0}

{"title":"Clinical trial of intrathecal injection of protein polymers for apoplexy: A protocol","authors":"Lu Diao ,&nbsp;Xiaoyan Liu ,&nbsp;Mingze Chai ,&nbsp;Jianjun Li ,&nbsp;Yu Wang ,&nbsp;Wenyong Gao ,&nbsp;Haisheng Liu ,&nbsp;Mi Liu ,&nbsp;Lin Chen","doi":"10.1016/j.jnrt.2023.100052","DOIUrl":"10.1016/j.jnrt.2023.100052","url":null,"abstract":"<div><p>Protein polymers derived from mesenchymal stem cells, especially human umbilical cord mesenchymal stem cells, showed promising potentials in treating ischemic stroke, thanks to the advantages of selective assembly, targeted delivery, efficient repair of damaged tissues, high safety, highly stable chemical properties, and being easy for storage. Herein, we introduced a clinical trial based on protein polymers derived from human umbilical cord mesenchymal stem cells. The main purpose of this clinical study is to preliminarily verify the safety and efficacy of intrathecal administration and application of protein polymers in clinical treatment of ischemic stroke cases. The summary of the program, the research plan, test protein polymer intrathecal injection method, experimental protein polymer management, patient evaluation index, data management and statistical analysis, technical features, trial schedule etc. are detailed described in the article. This clinical study provides information for other clinical trials based on protein polymers and medicines used to treat apoplexy.</p></div>","PeriodicalId":44709,"journal":{"name":"Journal of Neurorestoratology","volume":"11 2","pages":"Article 100052"},"PeriodicalIF":3.3,"publicationDate":"2023-06-01","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"44235480","PeriodicalName":null,"FirstCategoryId":null,"ListUrlMain":null,"RegionNum":4,"RegionCategory":"医学","ArticlePicture":[],"TitleCN":null,"AbstractTextCN":null,"PMCID":"","EPubDate":null,"PubModel":null,"JCR":null,"JCRName":null,"Score":null,"Total":0}

{"title":"Experience of diagnosis and managements for patients with primary progressive freezing of gait","authors":"Li-Li Zhang ,&nbsp;Ya-Jie Zhao ,&nbsp;Liang Zhang ,&nbsp;Xiao-Ping Wang","doi":"10.1016/j.jnrt.2022.100039","DOIUrl":"10.1016/j.jnrt.2022.100039","url":null,"abstract":"<div><h3>Objective</h3><p>The goal of this research was to evaluate the clinical characteristics of patients with primary progressive freezing of gait (PPFOG).</p></div><div><h3>Patients and methods</h3><p>This retrospective study enrolled 8 PPFOG patients and 10 age-matched Parkinson's disease with freezing of gait (PDFOG) patients. All patients underwent structured forms to document clinical manifestations and neuropsychological evaluations.</p></div><div><h3>Result</h3><p>PPFOG patients demonstrated later onset age than PDFOG patients (70.00 ± 9.97 years versus 53.30 ± 5.40 years, respectively; <em>P</em> &lt; 0.05). Besides FOG (100%), the most prevalent concomitant symptoms of PPFOG patients were falling (<em>n</em> = 6, 75%), and fatigue (<em>n</em> = 5, 62.5%). More PPFOG patients had cerebrovascular risk factors and mild brain magnetic resonance imaging (MRI) abnormalities, which were constant with the manifestations of “cerebral small vessel disease” (<em>P</em> = 0.0001).</p></div><div><h3>Conclusion</h3><p>According to this study, the majority of PPFOG patients were linked with cerebrovascular disease risk factors and mild brain MRI abnormalities. More research on larger populations is needed to better understand the potential mechanisms underlying the link between PPFOG and cerebral small vessel disease.</p></div>","PeriodicalId":44709,"journal":{"name":"Journal of Neurorestoratology","volume":"11 1","pages":"Article 100039"},"PeriodicalIF":3.3,"publicationDate":"2023-03-01","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"48591532","PeriodicalName":null,"FirstCategoryId":null,"ListUrlMain":null,"RegionNum":4,"RegionCategory":"医学","ArticlePicture":[],"TitleCN":null,"AbstractTextCN":null,"PMCID":"","EPubDate":null,"PubModel":null,"JCR":null,"JCRName":null,"Score":null,"Total":0}

{"title":"The effect of CX3CL1/ CX3CR1 signal axis on microglia in central nervous system diseases","authors":"Jianhua Zhao ,&nbsp;Qiong Li ,&nbsp;Xiantao Ouyang ,&nbsp;Fan Wang ,&nbsp;Qing Li ,&nbsp;Zhixiu Xu ,&nbsp;Danxia Ji ,&nbsp;Qingwu Wu ,&nbsp;Jian Zhang ,&nbsp;Chengbiao Lu ,&nbsp;Sibei Ji ,&nbsp;Shaomin Li","doi":"10.1016/j.jnrt.2023.100042","DOIUrl":"10.1016/j.jnrt.2023.100042","url":null,"abstract":"<div><p>CX3C chemokine ligand 1 (CX3CL1), a unique member of the CX3C family, is most widely expressed in endothelial cells and neurons. Its specific receptor is CX3CR1, which is mainly expressed in central nervous system (CNS) microglia. CX3CL1 has effects on the brain and neurological system. CX3CL1 and its specific receptor CX3CR1 can inhibit calcium influx in neurons, promote the activation of protein kinases and the activation of nuclear transcription factor кB, etc., thereby reducing the release of inflammatory factors and achieving small stable glue in the state of plasmocytes and inhibiting the inflammatory response in CNS. This phenomenon limits neuronal death to a certain extent and has a particular neuroprotective effect. Currently, the CX3CL1/CX3CR1 signal axis impact is of particular interest in a variety of CNS disorders, such as Alzheimer's disease, stroke, cerebral small vessel disease, Parkinson's disease, epilepsy, and other diseases. A wealth of studies has reported CX3CL1/CX3CR1 signal axis as a functional regulator of microglia, thereby affecting the occurrence and development of CNS diseases. The current article briefly enlightens the role of the CX3CL1/CX3CR1 signal axis and microglia and its effect on CNS diseases.</p></div>","PeriodicalId":44709,"journal":{"name":"Journal of Neurorestoratology","volume":"11 1","pages":"Article 100042"},"PeriodicalIF":3.3,"publicationDate":"2023-03-01","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"42290785","PeriodicalName":null,"FirstCategoryId":null,"ListUrlMain":null,"RegionNum":4,"RegionCategory":"医学","ArticlePicture":[],"TitleCN":null,"AbstractTextCN":null,"PMCID":"","EPubDate":null,"PubModel":null,"JCR":null,"JCRName":null,"Score":null,"Total":0}

{"title":"Mechanical insufflation–exsufflation to facilitate ventilator weaning and possible decannulation for patients with encephalopathic conditions","authors":"John R. Bach ,&nbsp;Daniel Wang","doi":"10.1016/j.jnrt.2022.100031","DOIUrl":"https://doi.org/10.1016/j.jnrt.2022.100031","url":null,"abstract":"<div><h3>Background</h3><p>Clinicians are often faced with apparently tracheostomy mechanical ventilation dependent (TMV), patients who are ventilator unweanable due to encephalopathic/upper motor neuron conditions, that hamper return to the community.</p></div><div><h3>Objectives</h3><p>A protocol is suggested to wean these patients from mechanical ventilation and criteria offered for possible decannulation.</p></div><div><h3>Methods</h3><p>After excluding patients with severe muscle weakness due to neuromuscular diseases and high level spinal cord disorders, consecutive, apparently unweanable and unresponsive encephalopathic patients were to be weaned by a protocol that first normalized CO₂ levels at full ventilatory support settings. Then, supplemental oxygen was discontinued so that ambient air baseline oxyhemoglobin saturation (O₂ Sat) could be determined and subsequently be normalized by using mechanical insufflation<strong>–</strong>exsufflation (MIE), at 60–70 cmH₂O pressures, via the tubes every 2 hours, with the tube cuffs inflated. Once ambient air O₂ Sat levels remained normal, ambient air spontaneous, unassisted autonomous breathing “sprints” were initiated and continued until O₂ Sat decreased below 95% with respiratory distress. Patients spontaneously moving over 300 mL of air into their lungs without pressure support had very good prognoses for rapid ventilator weaning. Patients were not returned to TMV irrespective of tachypnea. After the “sprint”, they were rested by using 1–3 hours of full ventilatory support before the next sprint. Sprints lengthened until being fully weaned. After weaning, potential decannulation was evaluated using MIE expiratory flows (MIE-EF) and O₂ Sat.</p></div><div><h3>Results</h3><p>O₂ Sat normalized from the initial use of MIE via the tube for 7 of 13 patients then 4 weaned from the initial ambient air sprint. Weaning occurred in 4 days or less for 11 of 13. Despite continuous TMV dependence for 31 days to 15 months before the intervention, 7 weaned patients were successfully decannulated, 6 of the 7 with MIE-EF ≥ 190 L/m. All but 2 remained unresponsive, but 6 were discharged home to their families once decannulated.</p></div><div><h3>Conclusion</h3><p>Once primary ventilatory pump failure is excluded and lung disease improved to the extent that the ambient air O₂ Sat can be normalized by using MIE via invasive airway tubes to clear airway secretions, encephalopathic patients can have sufficient muscle strength to wean from ventilatory support and possibly be decannulated if mechanically augmented cough flows exceed 190 L/m.</p></div>","PeriodicalId":44709,"journal":{"name":"Journal of Neurorestoratology","volume":"11 1","pages":"Article 100031"},"PeriodicalIF":3.3,"publicationDate":"2023-03-01","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"49888993","PeriodicalName":null,"FirstCategoryId":null,"ListUrlMain":null,"RegionNum":4,"RegionCategory":"医学","ArticlePicture":[],"TitleCN":null,"AbstractTextCN":null,"PMCID":"","EPubDate":null,"PubModel":null,"JCR":null,"JCRName":null,"Score":null,"Total":0}

{"title":"The role of maternal immune activation in immunological and neurological pathogenesis of autism","authors":"Keqin Liu ,&nbsp;Yi Huang ,&nbsp;Yufei Zhu ,&nbsp;Yan Zhao ,&nbsp;Xiangyin Kong","doi":"10.1016/j.jnrt.2022.100030","DOIUrl":"https://doi.org/10.1016/j.jnrt.2022.100030","url":null,"abstract":"<div><p>The growing body of evidence associates infections during pregnancy and other inflammatory insults with developing neurodevelopmental and neurodevelopmental disorders in children, especially autism spectrum disorder. We review the specific roles that maternal immune activation (MIA) plays in the pathogenesis of autism, the critical cytokines involved, epigenetic factors, maternal antibodies and gender bias, and how MIA affects fetal neurodevelopment in the immune and neurological pathways. A comprehensive understanding of the profound impact of MIA on fetal neurodevelopment is vital for developing diagnostic criteria and medical measures for high-risk maternity and the development of treatments for multiple offspring neurodevelopmental disorders caused by maternal inflammation.</p></div>","PeriodicalId":44709,"journal":{"name":"Journal of Neurorestoratology","volume":"11 1","pages":"Article 100030"},"PeriodicalIF":3.3,"publicationDate":"2023-03-01","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"49906192","PeriodicalName":null,"FirstCategoryId":null,"ListUrlMain":null,"RegionNum":4,"RegionCategory":"医学","ArticlePicture":[],"TitleCN":null,"AbstractTextCN":null,"PMCID":"","EPubDate":null,"PubModel":null,"JCR":null,"JCRName":null,"Score":null,"Total":0}

{"title":"Brain iron deposition and whole-exome sequencing of non-Wilson's disease hypoceruloplasminemia in a family","authors":"Zhi-Xiang Xu ,&nbsp;Yi-Yan Zhou ,&nbsp;Rong Wu ,&nbsp;Ya-Jie Zhao ,&nbsp;Xiao-Ping Wang","doi":"10.1016/j.jnrt.2022.100027","DOIUrl":"https://doi.org/10.1016/j.jnrt.2022.100027","url":null,"abstract":"<div><h3>Objective</h3><p>Ceruloplasmin (CP), a key human ferroxidase, can maintain the iron balance in the brain, and the familial hypoceruloplasminemia might be rare. Ceruloplasmin reduction is one of the most common features in Wilson's disease. Some patients with hypoceruloplasminemia do not fulfill the criteria for the diagnosis of Wilson's disease or other known diseases. Moreover, these patients always suffer from various degrees of abnormal brain iron deposition. We sought to investigate the genetic basis of non-Wilson's disease hypoceruloplasminemia using whole-exome sequencing.</p></div><div><h3>Methods</h3><p>We recruited four patients with non-Wilson's disease hypoceruloplasminemia, who visited the Department of Neurology, Shanghai First People's Hospital, China from December 2010 to February 2011. Three of them were from the same pedigree, and the other patient shared no blood relation with the others. Iron deposition in the brain was assessed using quantitative susceptibility mapping and peripheral blood DNA was extracted. The part of the exons' genome were sequenced using the NimbleGen Sequence Capture Array and high-throughput sequencing technologies. Intersection analysis at the single nucleotide polymorphism (SNP) loci was carried out. The selected loci were verified with Sanger sequencing.</p></div><div><h3>Results</h3><p>Magnetic resonance imaging revealed that the magnetic susceptibility in the globus pallidus, which showed with a high signal intensity, was apparently higher in three patients than that in the normal controls, indicating the presence of abnormal iron deposition in the brain. The whole-exome sequencing and Sanger sequencing primarily excluded the possibility of mutations in the <em>CP</em>, <em>ATP7B</em>, and <em>ATP7A</em> genes that may impact ceruloplasmin levels. The four patients presented the homozygous mutation c.3611A&gt;C in the <em>C12orf51</em> gene; this was suspected to be a causative mutation after excluding SNP loci that were the same as those in the common population, as per The 1000 Genomes Project.</p></div><div><h3>Conclusion</h3><p>Non-Wilson's disease hypoceruloplasminemia showed varying degrees of abnormal iron deposition in the brain, and was possibly associated with the c.3611A&gt;C mutation in <em>C12orf51</em>. How copper and iron regulate the levels of one another in the body is still not fully understood. The reduction of ceruloplasmin levels and brain iron deposition probably participated in the occurrence and development of neurodegenerative diseases. Following the combination of pre-existing techniques with a new generation of gene sequencing, the early diagnosis, prevention, and treatment of non-Wilson's disease hypoceruloplasminemia and other neurodegenerative diseases can be achieved.</p></div>","PeriodicalId":44709,"journal":{"name":"Journal of Neurorestoratology","volume":"11 1","pages":"Article 100027"},"PeriodicalIF":3.3,"publicationDate":"2023-03-01","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"49888992","PeriodicalName":null,"FirstCategoryId":null,"ListUrlMain":null,"RegionNum":4,"RegionCategory":"医学","ArticlePicture":[],"TitleCN":null,"AbstractTextCN":null,"PMCID":"","EPubDate":null,"PubModel":null,"JCR":null,"JCRName":null,"Score":null,"Total":0}