Abstract:
:Spinal muscular atrophy (SMA) is a progressive, recessively inherited neuromuscular disease, characterized by the degeneration of lower motor neurons in the spinal cord and brainstem, which leads to weakness and muscle atrophy. SMA currently represents the most common genetic cause of infant death. SMA is caused by the lack of survival motor neuron (SMN) protein due to mutations, which are often deletions, in the SMN1 gene. In the absence of treatments able to modify the disease course, a considerable burden falls on patients and their families. Greater knowledge of the molecular basis of SMA pathogenesis has fuelled the development of potential therapeutic approaches, which are illustrated here. Nusinersen, a modified antisense oligonucleotide that modulates the splicing of the SMN2 mRNA transcript, is the first approved drug for all types of SMA. Moreover, the first gene therapy clinical trial using adeno-associated virus (AAV) vectors encoding SMN reported positive results in survival and motor milestones achievement. In addition, other strategies are in the pipeline, including modulation of SMN2 transcripts, neuroprotection, and targeting an increasing number of other peripheral targets, including the skeletal muscle. Based on this premise, it is reasonable to expect that therapeutic approaches aimed at treating SMA will soon be changed, and improved, in a meaningful way. We discuss the challenges with regard to the development of novel treatments for patients with SMA, and depict the current and future scenarios as the field enters into a new era of promising effective treatments.
journal_name
Ther Adv Neurol Disordjournal_title
Therapeutic advances in neurological disordersauthors
Parente V,Corti Sdoi
10.1177/1756285618754501subject
Has Abstractpub_date
2018-02-05 00:00:00pages
1756285618754501eissn
1756-2856issn
1756-2864pii
10.1177_1756285618754501journal_volume
11pub_type
杂志文章,评审abstract::The treatment of stroke caused by intracranial vessel occlusion with intravenous recombinant tissue plasminogen activator (rt-PA) was the only evidence-based treatment option for a long time. Nevertheless the response rate was disappointing in large vessel occlusions. Five studies that evaluated the efficacy of mechan...
journal_title:Therapeutic advances in neurological disorders
pub_type: 杂志文章,评审
doi:10.1177/1756285617742082
更新日期:2017-11-22 00:00:00
abstract:OBJECTIVE:Intracranial aneurysms (IAs) require deliberately selected treatment strategies as they are incrementally found prior to rupture and deleterious subarachnoid haemorrhage (SAH). Multiple and recurrent aneurysms necessitate both neurointerventionalists and neurosurgeons to optimize aneurysmal occlusion in an in...
journal_title:Therapeutic advances in neurological disorders
pub_type: 杂志文章
doi:10.1177/1756285611415309
更新日期:2011-09-01 00:00:00
abstract:Background:The humanized anti-α4 integrin monoclonal antibody natalizumab has proven to be very effective in patients with highly active relapsing-remitting multiple sclerosis (MS), but harbors the risk of progressive multifocal leukoencephalopathy (PML). Recently, new therapeutic options have become available for pati...
journal_title:Therapeutic advances in neurological disorders
pub_type: 杂志文章
doi:10.1177/1756286419887596
更新日期:2019-12-02 00:00:00
abstract::Over 320 years after Thomas Sydenham described the condition labelled Sydenham's chorea, it remains poorly understood. The disorder is an antineuronal antibody-mediated neuropsychiatric disorder caused by a poststreptococcal, autoimmune condition affecting control of movement, mood, behaviour and potentially the heart...
journal_title:Therapeutic advances in neurological disorders
pub_type: 杂志文章
doi:10.1177/1756285610382063
更新日期:2010-09-01 00:00:00
abstract::Experimental models of Parkinson's disease (PD) are of great importance for improving the design of future clinical trials. Various neurotoxic models are available, including 6-hydroxydopamine (6-OHDA), 1-methyl-4-phenyl-1,2,3,6-tetrahydropyridine (MPTP), paraquat and rotenone. However, no model is considered perfect;...
journal_title:Therapeutic advances in neurological disorders
pub_type: 杂志文章
doi:10.1177/1756285611413004
更新日期:2011-11-01 00:00:00
abstract::Neuromyelitis optica (NMO) is an inflammatory demyelinating disease that largely affects optic nerves and spinal cord. Recent studies have identified an elevation of serum anti-aquaporin 4 antibody as a hallmark of NMO. Typical cases of NMO significantly differ from multiple sclerosis (MS) in immunological markers, hi...
journal_title:Therapeutic advances in neurological disorders
pub_type: 杂志文章
doi:10.1177/1756285608093978
更新日期:2008-07-01 00:00:00
abstract::Natalizumab is approved for the treatment of patients with relapsing-remitting multiple sclerosis who have failed first-line treatment with traditional disease-modifying therapies or who have highly active disease. The drug has proved highly effective, both in a clinical trial setting and in clinical practice, with ma...
journal_title:Therapeutic advances in neurological disorders
pub_type: 杂志文章
doi:10.1177/1756285612470401
更新日期:2013-03-01 00:00:00
abstract::Autoimmune glial fibrillary acidic protein (GFAP) astrocytopathy has been considered a novel central nervous system autoimmune disease characterized by relapse and responsiveness to corticosteroid with a specific GFAP-Immunoglobulin G (IgG) being noted in cerebrospinal fluid. We report the case of a 21-year-old girl p...
journal_title:Therapeutic advances in neurological disorders
pub_type:
doi:10.1177/1756286420909973
更新日期:2020-06-03 00:00:00
abstract::Alzheimer's disease (AD) is a neurodegenerative disease characterized by progressive memory loss and dementia. Accumulating evidence suggests that inflammation is involved in the pathogenesis of AD. Epidemiological studies suggest that use of anti-inflammatory drugs is associated with a lower incidence of AD. However,...
journal_title:Therapeutic advances in neurological disorders
pub_type: 杂志文章,评审
doi:10.1177/1756286418791107
更新日期:2018-08-09 00:00:00
abstract::The development of neutralizing antibodies (NAbs) is a major problem in multiple sclerosis (MS) patients treated with interferon-beta (IFN-ß). Whereas binding antibodies (BAbs) can be demonstrated in the vast majority of patients, only a smaller proportion of patients develop NAbs. The principle in NAb in vitro assays...
journal_title:Therapeutic advances in neurological disorders
pub_type: 杂志文章
doi:10.1177/1756285608095144
更新日期:2008-09-01 00:00:00
abstract:Background:To compare the long-term clinical outcomes of different antihypertensive drugs in stable patients after acute hemorrhagic stroke (HS). Methods:From January 2001 to December 2013, patients with first-ever primary HS were identified in the National Health Insurance Research Database, Taiwan. Patients with tra...
journal_title:Therapeutic advances in neurological disorders
pub_type: 杂志文章
doi:10.1177/1756286418802688
更新日期:2018-09-28 00:00:00
abstract::More than 30% of epilepsy patients remain refractory despite the advent of new antiepileptic drugs (AEDs) over two decades. Although a small percentage of these refractory patients may become seizure free when a new AED is added, combined administration of AEDs or the application of novel AEDs is the most common thera...
journal_title:Therapeutic advances in neurological disorders
pub_type: 杂志文章
doi:10.1177/1756285609355850
更新日期:2010-03-01 00:00:00
abstract:Background:Whole brain atrophy (WBA) estimates in multiple sclerosis (MS) correlate more robustly with clinical disability than traditional, lesion-based metrics. We compare Structural Image Evaluation using Normalisation of Atrophy (SIENA) with the icobrain longitudinal pipeline (icobrain long), for assessment of long...
journal_title:Therapeutic advances in neurological disorders
pub_type: 杂志文章
doi:10.1177/1756286418823462
更新日期:2019-01-25 00:00:00
abstract::Multiple sclerosis (MS) is a potentially disabling chronic autoimmune neurological disease that mainly affects young adults. Our understanding of the pathophysiology of MS has significantly advanced in the past quarter of a century. This has led to the development of many disease-modifying therapies (DMTs) that preven...
journal_title:Therapeutic advances in neurological disorders
pub_type: 杂志文章
doi:10.1177/1756285612450936
更新日期:2012-07-01 00:00:00
abstract::Acute stroke is one of the major causes of death and disabilities. Since the 1980s many clinical studies have been conducted to evaluate neuroprotective approaches to treat this important brain vascular event. However, to date the only drug approved (recombinant tissue plasminogen activator [rtPA]) represents a thromb...
journal_title:Therapeutic advances in neurological disorders
pub_type: 杂志文章
doi:10.1177/1756285611434926
更新日期:2012-05-01 00:00:00
abstract:Background:Network science provides powerful access to essential organizational principles of the brain. The aim of this study was to investigate longitudinal evolution of gray matter networks in early relapsing-remitting MS (RRMS) compared with healthy controls (HCs) and contrast network dynamics with conventional atr...
journal_title:Therapeutic advances in neurological disorders
pub_type: 杂志文章
doi:10.1177/1756286419838673
更新日期:2019-04-24 00:00:00
abstract::The World Wide Web is increasingly used in therapeutic settings. In this regard, internet-based interventions have proven effective in ameliorating several health behaviors, amongst them physical activity behavior. Internet-delivered interventions have shown positive effects on physical activity and physical function ...
journal_title:Therapeutic advances in neurological disorders
pub_type: 杂志文章,评审
doi:10.1177/1756285616640684
更新日期:2016-07-01 00:00:00
abstract::Chronic migraine (CM) is a severely disabling neurological condition characterized by episodes of pulsating unilateral or bilateral headache. The United States Food and Drug Administration (FDA) approved onabotulinumtoxinA (Botox®) for the prophylactic treatment of CM in 2010. It has been shown that onabotulinumtoxinA...
journal_title:Therapeutic advances in neurological disorders
pub_type: 杂志文章,评审
doi:10.1177/1756285616677005
更新日期:2017-02-01 00:00:00
abstract::Multiple sclerosis (MS) is a chronic inflammatory disorder of the central nervous system. Demyelinization of nerve fibres not only affects the motor and sensory systems functionally, but may also cause psychopathological signs and symptoms. In addition to the psychiatric manifestations of MS, many patients have reacti...
journal_title:Therapeutic advances in neurological disorders
pub_type: 杂志文章
doi:10.1177/1756285608100325
更新日期:2009-01-01 00:00:00
abstract:Background:Although the pathogenesis of myasthenia gravis (MG) is well known, prognostic markers are not yet available. We assessed the utility of anti-acetylcholine receptor (AChR) antibody (AChR-ab) titer and concentration of C3, C4, and C5a as potential severity biomarkers in MG. Methods:Levels of C3, C4, C5a, and ...
journal_title:Therapeutic advances in neurological disorders
pub_type: 杂志文章
doi:10.1177/1756286420935697
更新日期:2020-08-10 00:00:00
abstract::Alzheimer's dementia (AD) is increasingly being recognized as one of the most important medical and social problems in older people in industrialized and non-industrialized nations. To date, only symptomatic treatments exist for this disease, all trying to counterbalance the neurotransmitter disturbance. Three choline...
journal_title:Therapeutic advances in neurological disorders
pub_type: 杂志文章
doi:10.1177/1756285612461679
更新日期:2013-01-01 00:00:00
abstract::Until the early 1990s, a limited number of antiepileptic drugs (AEDs) were available. Since then, a large variety of new AEDs have been developed and introduced, several of them offering new modes of action. One of these new AED families is described and reviewed in this article. Levetiracetam (LEV) and brivaracetam (...
journal_title:Therapeutic advances in neurological disorders
pub_type: 杂志文章,评审
doi:10.1177/1756286419873518
更新日期:2019-09-09 00:00:00
abstract::Brain imaging is increasingly used to support clinicians in diagnosing multiple sclerosis (MS) and monitoring its progression. However, the role of magnetic resonance imaging (MRI) in MS goes far beyond its clinical application. Indeed, advanced imaging techniques have helped to detect different components of MS patho...
journal_title:Therapeutic advances in neurological disorders
pub_type: 杂志文章,评审
doi:10.1177/1756286419859722
更新日期:2019-06-27 00:00:00
abstract::Stroke is the fifth leading cause of death and the most frequent cause of disability worldwide. Currently, stroke diagnosis is based on neuroimaging; therefore, the lack of a rapid tool to diagnose stroke is still a major concern. In addition, therapeutic approaches to combat ischemic stroke are still scarce, since th...
journal_title:Therapeutic advances in neurological disorders
pub_type: 杂志文章,评审
doi:10.1177/1756286418789340
更新日期:2018-08-06 00:00:00
abstract::The treatment of neuropathic pain is difficult. Oral pharmaceuticals have significant side effects, and treatment efficacy tends to be modest. The use of topical analgesics reduces the potential for systemic side effects and allows direct application of medications to the area of pain. The natural spicy substance, cap...
journal_title:Therapeutic advances in neurological disorders
pub_type: 杂志文章,评审
doi:10.1177/1756285613501576
更新日期:2014-01-01 00:00:00
abstract::Prolonged-release (PR) fampridine is the only approved medication to improve walking in multiple sclerosis (MS), having been shown to produce a clinically meaningful improvement in walking ability in the subset of MS patients with Expanded Disability Status Scale 4-7. Recent responder subgroup analyses in the phase II...
journal_title:Therapeutic advances in neurological disorders
pub_type: 杂志文章,评审
doi:10.1177/1756286418803248
更新日期:2018-10-05 00:00:00
abstract:Background:Lennox-Gastaut syndrome (LGS) is a typical intractable form of epilepsy that most often occurs between the second and sixth year of life. This study aimed to evaluate the clinical efficacy and safety of ketogenic diet therapies (DTs) for LGS with mitochondrial dysfunction. Methods:This was a retrospective s...
journal_title:Therapeutic advances in neurological disorders
pub_type: 杂志文章
doi:10.1177/1756286419897813
更新日期:2020-02-06 00:00:00
abstract::Topiramate has been widely utilized worldwide as an effective medication against partial- and generalized-onset seizures. Extended-release topiramate was developed to provide patients with the convenience of once-daily dosing and potentially improved tolerability by reducing serum concentration fluctuation. USL255 is ...
journal_title:Therapeutic advances in neurological disorders
pub_type: 杂志文章,评审
doi:10.1177/1756285615578406
更新日期:2015-05-01 00:00:00
abstract::For patients with relapsing-remitting multiple sclerosis (RRMS), there are currently six approved medications that have been shown to alter the natural course of the disease. The approved medications include three beta interferon formulations, glatiramer acetate, natalizumab and mitoxantrone. Treating aggressive forms...
journal_title:Therapeutic advances in neurological disorders
pub_type: 杂志文章
doi:10.1177/1756285609344375
更新日期:2009-11-01 00:00:00
abstract:BACKGROUND:Efficacy of interferon beta in multiple sclerosis (MS) can be dampened in patients who develop neutralizing antidrug antibodies (NAbs). Peginterferon beta1a is an interferon conjugated with a polyethylene glycol (PEG) moiety. Pegylation increases a drug's half life and exposure, and may also reduce immunogen...
journal_title:Therapeutic advances in neurological disorders
pub_type: 杂志文章
doi:10.1177/1756285616633967
更新日期:2016-07-01 00:00:00