Abstract:
:Brain atrophy, white matter abnormalities, and ventricular enlargement have been described in different neuromuscular diseases (NMDs). We aimed to provide a comprehensive overview of the substantial advancement of brain imaging in neuromuscular diseases by consulting the main libraries (Pubmed, Scopus and Google Scholar) including the more common forms of muscular dystrophies such as dystrophinopathies, dystroglycanopathies, myotonic dystrophies, facioscapulohumeral dystrophy, limb-girdle muscular dystrophy, congenital myotonia, and congenital myopathies. A consistent, widespread cortical and subcortical involvement of grey and white matter was found. Abnormalities in the functional connectivity in brain networks and metabolic alterations were observed with positron emission tomography (PET) and single photon emission computed tomography (SPECT). Pathological brain changes with cognitive dysfunction seemed to be frequently associated in NMDs. In particular, in congenital muscular dystrophies (CMDs), skeletal muscular weakness, severe hypotonia, WM abnormalities, ventricular dilatation and abnormalities in cerebral gyration were observed. In dystroglycanopathy 2I subtype (LGMD2I), adult patients showed subcortical atrophy and a WM periventricular involvement, moderate ventriculomegaly, and enlargement of subarachnoid spaces. Correlations with clinical features have been observed with brain imaging characteristics and alterations were prominent in congenital or childhood onset cases. In myotonic dystrophy type 2 (DM2) symptoms seem to be less severe than in type 1 (DM1). In Duchenne and Becker muscular dystrophies (DMD, BMD) cortical atrophy is associated with minimal ventricular dilatation and WM abnormalities. Late-onset glycogenosis type II (GSD II) or Pompe infantile forms are characterized by delayed myelination. Only in a few cases of oculopharyngeal muscular dystrophy (OPMD) central nervous system involvement has been described and associated with executive functions impairment.
journal_name
Ther Adv Neurol Disordjournal_title
Therapeutic advances in neurological disordersauthors
Angelini C,Pinzan Edoi
10.1177/1756286419845567subject
Has Abstractpub_date
2019-05-06 00:00:00pages
1756286419845567eissn
1756-2856issn
1756-2864pii
10.1177_1756286419845567journal_volume
12pub_type
杂志文章,评审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::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::Dabigatran is increasingly being used in clinical practice for the thromboprophylaxis in atrial fibrillation as a convenient therapy that needs no drug level monitoring. However, analysis of the data of the same clinical trial that led to the adoption of dabigatran in fixed-dosing regimens has indicated a small subgro...
journal_title:Therapeutic advances in neurological disorders
pub_type: 杂志文章,评审
doi:10.1177/1756285615601360
更新日期:2015-11-01 00:00:00
abstract::Since the approval in 2010 of fingolimod 0.5 mg (Gilenya; Novartis Pharma AG, Basel, Switzerland) in the USA as an oral therapy for relapsing forms of multiple sclerosis, long-term clinical experience with this therapy has been increasing. This review provides a summary of the cumulative dataset from clinical trials a...
journal_title:Therapeutic advances in neurological disorders
pub_type: 杂志文章,评审
doi:10.1177/1756285616628766
更新日期:2016-03-01 00:00:00
abstract:BACKGROUND:The aim of this study was to analyse registry data of seizure outcome and adverse events (AEs) for perampanel as add-on therapy in patients with focal epilepsy since its approval in 2012 for adjunctive treatment of focal epilepsy in patients ⩾12 years. METHOD:A retrospective 2-year chart review of all patie...
journal_title:Therapeutic advances in neurological disorders
pub_type: 杂志文章
doi:10.1177/1756285616661115
更新日期:2016-11-01 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::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::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::Ehlers-Danlos syndrome (EDS) is a heterogeneous heritable connective tissue disorder with various neurological manifestations, including chronic pain. The neurological manifestations in EDS are often regarded as being caused by the associated musculoskeletal disorders or polyneuropathy. Here, we present two patients w...
journal_title:Therapeutic advances in neurological disorders
pub_type:
doi:10.1177/1756286418793766
更新日期:2018-08-18 00:00:00
abstract:Background:No evidence of disease activity (NEDA) is a composite measurement, incorporating clinical and magnetic resonance imaging (MRI) elements of disease activity to sensitively evaluate the therapeutic efficacy of treatments for relapsing-remitting multiple sclerosis (RRMS). Objective:To assess the NEDA status of...
journal_title:Therapeutic advances in neurological disorders
pub_type: 杂志文章
doi:10.1177/1756286418795085
更新日期:2018-08-28 00:00:00
abstract::Calcitonin gene related peptide (CGRP) monoclonal antibodies (mAbs) have been the first class of specifically developed preventive treatments for migraine. Clinical trials data suggest superiority of the CGRP mAbs to placebo in terms of prevention of migraine symptoms, migraine-specific quality of life and headache re...
journal_title:Therapeutic advances in neurological disorders
pub_type: 杂志文章,评审
doi:10.1177/1756286420927119
更新日期:2020-05-27 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::B cells play a central role in the pathogenesis in multiple sclerosis (MS), being involved in the activation of proinflammatory T cells, secretion of proinflammatory cytokines, and production of autoantibodies directed against myelin. Hence, the usage of B-cell-depleting monoclonal antibodies as therapy for autoimmune...
journal_title:Therapeutic advances in neurological disorders
pub_type: 杂志文章,评审
doi:10.1177/1756285615601933
更新日期:2016-01-01 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::Key objectives in the treatment of multiple sclerosis (MS) include prevention of relapses, a reduction in the accumulation of disability and slowing of the brain volume loss that occurs from the earliest stages of the disease. Teriflunomide, a once-daily, oral immunomodulatory therapy, has demonstrated efficacy across...
journal_title:Therapeutic advances in neurological disorders
pub_type: 杂志文章,评审
doi:10.1177/1756285617722500
更新日期:2017-12-01 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::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:To investigate outcome and toxicity of high-dose systemic methotrexate (HDMTX)-based polychemotherapy and intracerebroventricular (ICV) chemotherapy via an Ommaya reservoir in elderly patients with primary central nervous system lymphoma (PCNSL). Methods:We performed a retrospective analysis on patients ⩾65...
journal_title:Therapeutic advances in neurological disorders
pub_type: 杂志文章
doi:10.1177/1756286420951087
更新日期:2020-10-07 00:00:00
abstract::A first step in evaluating the use of computers in language therapy for individuals with aphasia is to establish the treatment as active in small groups prior to large-scale clinical trials. The present study evaluated a comprehensive computer-based language therapy program in a group of eight individuals with chronic...
journal_title:Therapeutic advances in neurological disorders
pub_type: 杂志文章
doi:10.1177/1756285609336548
更新日期:2009-09-01 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:Background:Galcanezumab, along with three other monoclonal antibodies targeting the calcitonin gene-related peptide (CGRP) pathway, represents the latest disease-specific and mechanism-based treatment for the prophylaxis of migraine. Galcanezumab shares data also for the prophylaxis of cluster headache. Objective:To p...
journal_title:Therapeutic advances in neurological disorders
pub_type: 杂志文章,评审
doi:10.1177/1756286420918088
更新日期:2020-04-28 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: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::In the past few years, acquired demyelinating syndromes of the central nervous system associated with antibodies against myelin oligodendrocyte glycoprotein (MOG) have evolved into a new inflammatory disease entity distinct from neuromyelitis optica spectrum disorders or multiple sclerosis. The meticulous clinical des...
journal_title:Therapeutic advances in neurological disorders
pub_type: 杂志文章,评审
doi:10.1177/1756286420945135
更新日期:2020-07-31 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::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::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::Neuroinflammation is one of the key components contributing to the devastating outcome of ischemic stroke. Starting with stroke onset, inflammatory processes contribute both to cell damage and tissue remodeling. The early release of alarmins triggers the upregulation of multiple proinflammatory cytokines, resulting in...
journal_title:Therapeutic advances in neurological disorders
pub_type: 杂志文章,评审
doi:10.1177/1756286418818092
更新日期:2018-12-17 00:00:00
abstract::Essential tremor (ET) is the most common adult movement disorder. Traditionally considered as a benign disease, it can cause an important physical and psychosocial disability. Drug treatment for ET remains poor and often unsatisfactory. Current therapeutic strategies for ET are reviewed according to the level of disco...
journal_title:Therapeutic advances in neurological disorders
pub_type: 杂志文章
doi:10.1177/1756285609104791
更新日期:2009-07-01 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