Degenerative Neurological and Neuromuscular Disease最新文献_第6页

Palliative care for patients with motor neurone disease: current challenges. 运动神经元疾病患者的姑息治疗:当前的挑战。

Degenerative Neurological and Neuromuscular Disease Pub Date : 2016-05-26 eCollection Date: 2016-01-01 DOI: 10.2147/DNND.S85103

David J Oliver

引用次数: 11

The genetics of amyotrophic lateral sclerosis: current insights. 肌萎缩性脊髓侧索硬化症的遗传学：最新见解。

Degenerative Neurological and Neuromuscular Disease Pub Date : 2016-05-13 eCollection Date: 2016-01-01 DOI: 10.2147/DNND.S84956

Afnan A Alsultan, Rachel Waller, Paul R Heath, Janine Kirby

{"title":"The genetics of amyotrophic lateral sclerosis: current insights.","authors":"Afnan A Alsultan, Rachel Waller, Paul R Heath, Janine Kirby","doi":"10.2147/DNND.S84956","DOIUrl":"10.2147/DNND.S84956","url":null,"abstract":"Amyotrophic lateral sclerosis (ALS) is a progressive neurodegenerative disorder that results in loss of the upper and lower motor neurons from motor cortex, brainstem, and spinal cord. While the majority of cases are sporadic, approximately 10% show familial inheritance. ALS is usually inherited in an autosomal dominant manner, although autosomal recessive and X-linked inheritance do occur. To date, 24 of the genes at 26 loci have been identified; these include loci linked to ALS and to frontotemporal dementia-ALS, where family pedigrees contain individuals with frontotemporal dementia with/without ALS. The most commonly established genetic causes of familial ALS (FALS) to date are the presence of a hexanucleotide repeat expansion in the C9ORF72 gene (39.3% FALS) and mutation of SOD1, TARDBP, and FUS, with frequencies of 12%-23.5%, 5%, and 4.1%, respectively. However, with the increasing use of next-generation sequencing of small family pedigrees, this has led to an increasing number of genes being associated with ALS. This review provides a comprehensive review on the genetics of ALS and an update of the pathogenic mechanisms associated with these genes. Commonly implicated pathways have been established, including RNA processing, the protein degradation pathways of autophagy and ubiquitin-proteasome system, as well as protein trafficking and cytoskeletal function. Elucidating the role genetics plays in both FALS and sporadic ALS is essential for understanding the subsequent cellular dysregulation that leads to motor neuron loss, in order to develop future effective therapeutic strategies.","PeriodicalId":11147,"journal":{"name":"Degenerative Neurological and Neuromuscular Disease","volume":"6 ","pages":"49-64"},"PeriodicalIF":0.0,"publicationDate":"2016-05-13","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"https://ftp.ncbi.nlm.nih.gov/pub/pmc/oa_pdf/36/14/dnnd-6-049.PMC6053097.pdf","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"36345189","PeriodicalName":null,"FirstCategoryId":null,"ListUrlMain":null,"RegionNum":0,"RegionCategory":"","ArticlePicture":[],"TitleCN":null,"AbstractTextCN":null,"PMCID":"OA","EPubDate":null,"PubModel":null,"JCR":null,"JCRName":null,"Score":null,"Total":0}

引用次数: 0

Clinical potential of ataluren in the treatment of Duchenne muscular dystrophy. 阿妥伦治疗杜氏肌营养不良的临床潜力。

Degenerative Neurological and Neuromuscular Disease Pub Date : 2016-05-13 eCollection Date: 2016-01-01 DOI: 10.2147/DNND.S71808

John Hyun Namgoong, Carmen Bertoni

{"title":"Clinical potential of ataluren in the treatment of Duchenne muscular dystrophy.","authors":"John Hyun Namgoong, Carmen Bertoni","doi":"10.2147/DNND.S71808","DOIUrl":"https://doi.org/10.2147/DNND.S71808","url":null,"abstract":"Duchenne muscular dystrophy (DMD) is an autosomal dominant, X-linked neuromuscular disorder caused by mutations in dystrophin, one of the largest genes known to date. Dystrophin gene mutations are generally transmitted from the mother to male offspring and can occur throughout the coding length of the gene. The majority of the methodologies aimed at treating the disorder have focused on restoring a shorter, although partially functional, dystrophin protein. The approach has the potential of converting a severe DMD phenotype into a milder form of the disease known as Becker muscular dystrophy. Others have focused on ameliorating the disease by targeting secondary pathologies such as inflammation or loss of regeneration. Of great potential is the development of strategies that are capable of restoring full-length dystrophin expression due to their ability to produce a normal, fully functional protein. Among these strategies, the use of read-through compounds (RTCs) that could be administered orally represents an ideal option. Gentamicin has been previously tested in clinical trials for DMD with limited or no success, and its use in the clinic has been dismissed due to issues of toxicity and lack of clear benefits to patients. More recently, new RTCs have been identified and tested in animal models for DMD. This review will focus on one of those RTCs known as ataluren that has now completed Phase III clinical studies for DMD and at providing an overview of the different stages that have led to its clinical development for the disease. The impact that this new drug may have on DMD and its future perspectives will also be described, with an emphasis on the importance of further assessing the clinical benefits of this molecule in patients as it becomes available on the market in different countries.","PeriodicalId":11147,"journal":{"name":"Degenerative Neurological and Neuromuscular Disease","volume":"6 ","pages":"37-48"},"PeriodicalIF":0.0,"publicationDate":"2016-05-13","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"https://sci-hub-pdf.com/10.2147/DNND.S71808","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"36345187","PeriodicalName":null,"FirstCategoryId":null,"ListUrlMain":null,"RegionNum":0,"RegionCategory":"","ArticlePicture":[],"TitleCN":null,"AbstractTextCN":null,"PMCID":"OA","EPubDate":null,"PubModel":null,"JCR":null,"JCRName":null,"Score":null,"Total":0}

引用次数: 17

Novel targets for Huntington's disease: future prospects. 治疗亨廷顿舞蹈症的新靶点:未来展望。

Degenerative Neurological and Neuromuscular Disease Pub Date : 2016-05-04 eCollection Date: 2016-01-01 DOI: 10.2147/DNND.S83808

Sarah L Mason, Roger A Barker

引用次数: 11

Orthostatic tremor: current challenges and future prospects. 直立性震颤:当前的挑战和未来的展望。

Degenerative Neurological and Neuromuscular Disease Pub Date : 2016-04-06 eCollection Date: 2016-01-01 DOI: 10.2147/DNND.S84742

Philip Babatunde Adebayo

{"title":"Orthostatic tremor: current challenges and future prospects.","authors":"Philip Babatunde Adebayo","doi":"10.2147/DNND.S84742","DOIUrl":"https://doi.org/10.2147/DNND.S84742","url":null,"abstract":"This review provides an outlook of orthostatic tremor (OT), a rare adult-onset tremor characterized by subjective unsteadiness during standing that is relieved by sitting or walking. Recent case series with a long-time follow-up have shown that the disease is slowly progressive, spatially spreads to the upper limbs, and other neurological disorders may develop in about one-third of the patients. The diagnosis of OT hinges on the typical history of unsteadiness during standing, which is confirmed by electromyographic findings of a 13-18 Hz tremor that is typically absent during tonic activation while the patient is sitting and lying. Although the tremor is generated by a central oscillator, cerebellar and/or basal ganglia dysfunction are needed for its manifestation (double lesion hypothesis). However, functional neuroimaging findings have not consistently implicated the dopaminergic system in its pathogenesis. Drug treatments have been largely disappointing with no sustained benefits, although thalamic deep brain stimulation has helped some patients. Large-scale follow-up studies, more drug trials, and novel therapies are urgently needed.","PeriodicalId":11147,"journal":{"name":"Degenerative Neurological and Neuromuscular Disease","volume":"6 ","pages":"17-24"},"PeriodicalIF":0.0,"publicationDate":"2016-04-06","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"https://sci-hub-pdf.com/10.2147/DNND.S84742","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"36346890","PeriodicalName":null,"FirstCategoryId":null,"ListUrlMain":null,"RegionNum":0,"RegionCategory":"","ArticlePicture":[],"TitleCN":null,"AbstractTextCN":null,"PMCID":"OA","EPubDate":null,"PubModel":null,"JCR":null,"JCRName":null,"Score":null,"Total":0}

引用次数: 0

Erratum: Critical appraisal of rotigotine transdermal system in management of Parkinson's disease and restless legs syndrome - patient considerations [Corrigendum]. 勘误:罗替戈汀透皮系统在帕金森病和不宁腿综合征治疗中的关键评价-患者考虑[勘误]。

Degenerative Neurological and Neuromuscular Disease Pub Date : 2016-02-03 eCollection Date: 2016-01-01 DOI: 10.2147/DNND.S94117

引用次数: 0

Human immune globulin infusion in the management of multifocal motor neuropathy. 人免疫球蛋白输注治疗多灶性运动神经病变。

Degenerative Neurological and Neuromuscular Disease Pub Date : 2015-12-22 eCollection Date: 2016-01-01 DOI: 10.2147/DNND.S96258

Elizabeth Jovanovich, Chafic Karam

引用次数: 4

MeCP2 in the regulation of neural activity: Rett syndrome pathophysiological perspectives. MeCP2在神经活动调控中的作用:Rett综合征病理生理学视角。

Degenerative Neurological and Neuromuscular Disease Pub Date : 2015-10-14 eCollection Date: 2015-01-01 DOI: 10.2147/DNND.S61269

Vishnu Anand Cuddapah, Elvee Nwaobi Sinifunanya, Alan K Percy, Michelle Lynne Olsen

{"title":"MeCP2 in the regulation of neural activity: Rett syndrome pathophysiological perspectives.","authors":"Vishnu Anand Cuddapah, Elvee Nwaobi Sinifunanya, Alan K Percy, Michelle Lynne Olsen","doi":"10.2147/DNND.S61269","DOIUrl":"https://doi.org/10.2147/DNND.S61269","url":null,"abstract":"Rett syndrome (RTT), an X-linked neurodevelopment disorder, occurs in approximately one out of 10,000 females. Individuals afflicted by RTT display a constellation of signs and symptoms, affecting nearly every organ system. Most striking are the neurological manifestations, including regression of language and motor skills, increased seizure activity, autonomic dysfunction, and aberrant regulation of breathing patterns. The majority of girls with RTT have mutations in the gene encoding for methyl-CpG binding protein 2 (MeCP2). Since the discovery of this genetic cause of RTT in 1999, there has been an accelerated pace of research seeking to understand the role of MeCP2 in the brain in the hope of developing a disease-modifying therapy for RTT. In this study, we review the clinical features of RTT and then explore the latest mechanistic studies in order to explain how a mutation in MeCP2 leads to these unique features. We cover in detail studies examining the role of MeCP2 in neuronal physiology, as well as recent evidence that implicates a key role for glia in the pathogenesis of RTT. In the past 20 years, these basic and clinical studies have yielded an extraordinary understanding of RTT; as such, we end this narrative review considering the translation of these studies into clinical trials for the treatment of RTT.","PeriodicalId":11147,"journal":{"name":"Degenerative Neurological and Neuromuscular Disease","volume":"5 ","pages":"103-116"},"PeriodicalIF":0.0,"publicationDate":"2015-10-14","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"https://sci-hub-pdf.com/10.2147/DNND.S61269","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"38164158","PeriodicalName":null,"FirstCategoryId":null,"ListUrlMain":null,"RegionNum":0,"RegionCategory":"","ArticlePicture":[],"TitleCN":null,"AbstractTextCN":null,"PMCID":"OA","EPubDate":null,"PubModel":null,"JCR":null,"JCRName":null,"Score":null,"Total":0}

引用次数: 6

The role of cell transplantation in modifying the course of limb girdle muscular dystrophy: a longitudinal 5-year study. 细胞移植在改善肢带肌营养不良病程中的作用:一项为期5年的纵向研究。

Degenerative Neurological and Neuromuscular Disease Pub Date : 2015-09-14 eCollection Date: 2015-01-01 DOI: 10.2147/DNND.S71775

Alok Sharma, Hemangi Sane, Nandini Gokulchandran, Sushant Gandhi, Pradnya Bhovad, Dipti Khopkar, Amruta Paranjape, Khushboo Bhagwanani, Prerna Badhe

{"title":"The role of cell transplantation in modifying the course of limb girdle muscular dystrophy: a longitudinal 5-year study.","authors":"Alok Sharma, Hemangi Sane, Nandini Gokulchandran, Sushant Gandhi, Pradnya Bhovad, Dipti Khopkar, Amruta Paranjape, Khushboo Bhagwanani, Prerna Badhe","doi":"10.2147/DNND.S71775","DOIUrl":"https://doi.org/10.2147/DNND.S71775","url":null,"abstract":"Limb girdle muscular dystrophy (LGMD), a group of progressive degenerative disorders, causes functional limitation affecting the quality of life. Cell therapy is being widely explored and preliminary studies have shown beneficial effects. Cell therapy induces trophic-factors release, angiogenesis, anti-inflammation, and protein synthesis, which helps in the reparative process at the microcellular level. In this 5-year longitudinal study, the effect of autologous bone marrow mononuclear cells is studied on the natural course of 65 patients with LGMD. Functional Independence Measure and manual muscle testing showed statistically significant improvement, post-cell transplantation. The key finding of this study was demonstration of a plateau phase in the disease progression of the patients. No adverse events were noted. Autologous bone marrow mononuclear cells may be a novel, safe, and effective treatment approach to control the rate of progression of LGMD, thus improving the functional outcomes. Further randomized controlled trials are required.","PeriodicalId":11147,"journal":{"name":"Degenerative Neurological and Neuromuscular Disease","volume":"5 ","pages":"93-102"},"PeriodicalIF":0.0,"publicationDate":"2015-09-14","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"https://sci-hub-pdf.com/10.2147/DNND.S71775","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"38164157","PeriodicalName":null,"FirstCategoryId":null,"ListUrlMain":null,"RegionNum":0,"RegionCategory":"","ArticlePicture":[],"TitleCN":null,"AbstractTextCN":null,"PMCID":"OA","EPubDate":null,"PubModel":null,"JCR":null,"JCRName":null,"Score":null,"Total":0}

引用次数: 5

Erratum: Multimodal intervention improves fatigue and quality of life in subjects with progressive multiple sclerosis: a pilot study [Corrigendum]. 多模式干预改善进行性多发性硬化症患者的疲劳和生活质量:一项初步研究[勘误]。

Degenerative Neurological and Neuromuscular Disease Pub Date : 2015-09-10 eCollection Date: 2015-01-01 DOI: 10.2147/DNND.S94278

引用次数: 0