Abstract:
:Introduction: Paroxysmal dyskinesias and episodic ataxias are often caused by mutations in genes related to cell membrane and synaptic function. Despite the exponential increase in publications of genetically confirmed cases, management remains largely clinical based on non-systematic evidence. Areas covered: The authors provide a historical and clinical review of the main types of paroxysmal dyskinesias and episodic ataxias, with recommendations for diagnosis and management of patients suffering from these conditions. Expert opinion: After secondary paroxysmal dyskinesias, the most common paroxysmal movement disorders are likely to be PRRT2-associated paroxysmal kinesigenic dyskinesias, which respond well to small doses of carbamazepine, and episodic ataxia type 2, which often responds to acetazolamide. Familial paroxysmal non-kinesigenic dyskinesias are largely caused by mutations in PNKD and have poor response to therapy but improve with age. Exercise-induced dyskinesias are genetically heterogeneous, caused by disorders of glucose transport, mitochondrial function, dopaminergic pathways or neurodegenerative conditions amongst others. GNAO1 and ADCY5 mutations can also cause paroxysmal movement disorders, often in the context of ongoing motor symptoms. Although a therapeutic trial is justified for classic cases and in limited resource settings, genetic testing may help direct initial or rescue therapy. Deep brain stimulation may be an option for severe cases.
journal_name
Expert Rev Neurotherjournal_title
Expert review of neurotherapeuticsauthors
De Gusmao CM,Silveira-Moriyama Ldoi
10.1080/14737175.2019.1648211subject
Has Abstractpub_date
2019-09-01 00:00:00pages
807-822issue
9eissn
1473-7175issn
1744-8360journal_volume
19pub_type
杂志文章,评审abstract::Neuropathic pain is notoriously difficult to treat; currently available pharmaceutical drugs result in moderate analgesia in approximately a third of patients. As our understanding of the biological processes involved in the establishment and maintenance of neuropathic pain increases, so does the development of novel ...
journal_title:Expert review of neurotherapeutics
pub_type: 杂志文章,评审
doi:10.1586/14737175.7.5.487
更新日期:2007-05-01 00:00:00
abstract::The aim of this article is to provide an overview on neuromuscular blocking agents and a rational selection of the most appropriate agents, along with pharmacological and pharmacoeconomic considerations on neuromuscular blockers and their antagonists. Neuromuscular blocking agents are used during anesthesia to facilit...
journal_title:Expert review of neurotherapeutics
pub_type: 杂志文章,评审
doi:10.1586/14737175.6.12.1833
更新日期:2006-12-01 00:00:00
abstract::The demographics of aging identify an immediate need for the early diagnosis and development of dementia prevention strategies. Recent neuropathological studies have pointed to the early involvement of the hippocampus and entorhinal cortex in the progression of Alzheimer's disease in the brain. In particular, these st...
journal_title:Expert review of neurotherapeutics
pub_type: 杂志文章,评审
doi:10.1586/14737175.4.5.831
更新日期:2004-09-01 00:00:00
abstract::Generalized cognitive impairments are stable deficits linked to schizophrenia and key factors associated with functional disability in the disorder. Preclinical data suggest that second-generation antipsychotics could potentially reduce cognitive impairments; however, recent large clinical trials indicate only modest ...
journal_title:Expert review of neurotherapeutics
pub_type: 杂志文章,评审
doi:10.1586/ern.09.143
更新日期:2010-01-01 00:00:00
abstract::Advances in neuroscience have led to an expanded and improved understanding of neurobiological changes associated with rehabilitation and exercise in Parkinson's disease (PD). This knowledge has led to a direct clinical impact of increased referral for early and continuous exercise programs for individuals with PD (ph...
journal_title:Expert review of neurotherapeutics
pub_type: 杂志文章,评审
doi:10.1586/ern.11.43
更新日期:2011-06-01 00:00:00
abstract:INTRODUCTION:Non-convulsive status epilepticus (NCSE) is a complex and diverse condition which is often an under-recognised entity in the intensive care unit. When NCSE is identified the optimal treatment strategy is not always clear. Areas covered: This review is based on a literature review of the key literature in t...
journal_title:Expert review of neurotherapeutics
pub_type: 杂志文章,评审
doi:10.1080/14737175.2017.1369880
更新日期:2017-10-01 00:00:00
abstract::Pain is one of the most troublesome sequelae of stroke, occurring in 19-74% of patients. A portion of this post-stroke pain is caused by the brain lesion itself; this is called 'central post-stroke pain' (CPSP). Although the prevalence of CPSP among stroke patients is low (1-8%), the persistent, often treatment-refrac...
journal_title:Expert review of neurotherapeutics
pub_type: 杂志文章,评审
doi:10.1586/ern.09.19
更新日期:2009-05-01 00:00:00
abstract:INTRODUCTION:Therapy with current antiepileptic drugs aims at reducing the likelihood of seizure occurrence rather than influencing the underlying disease process. Therefore, antiepileptic drugs have an anticonvulsant rather than antiepileptic property. Areas covered: The increasing identification of genetic causes for...
journal_title:Expert review of neurotherapeutics
pub_type: 杂志文章,评审
doi:10.1080/14737175.2017.1253476
更新日期:2017-04-01 00:00:00
abstract::The optimal therapy of pediatric ependymomas is controversial. The benefit of surgical resection is widely accepted, but the role of adjuvant therapy is subject to debate. Due to the relatively low survival rates of ependymoma patients, as well as the tumor's high recurrence rates, further research into the efficacy o...
journal_title:Expert review of neurotherapeutics
pub_type: 杂志文章,评审
doi:10.1586/14737175.5.4.465
更新日期:2005-07-01 00:00:00
abstract::This review evaluates the most recent evidence available on the potential of cannabinoid drugs to relieve spasticity and pain in multiple sclerosis. Many different drugs are used to control the symptoms of multiple sclerosis, periods of relapse and the progression of the disease but it is in the potential management o...
journal_title:Expert review of neurotherapeutics
pub_type: 杂志文章
doi:10.1586/14737175.3.3.327
更新日期:2003-05-01 00:00:00
abstract::Schizophrenia is a common, debilitating illness for which treatment is empirical and unsatisfactory. Intense efforts to identify etiological factors have been launched in order to facilitate rational therapy. Such efforts have included gene-mapping studies since a significant heritability has been proved. In common wi...
journal_title:Expert review of neurotherapeutics
pub_type: 杂志文章,评审
doi:10.1586/14737175.4.4.725
更新日期:2004-07-01 00:00:00
abstract::Cortical spreading depression (CSD) has been at the center stage of migraine pathophysiology for approximately six decades. Reanalysis of CSD reveals several major unbridgeable gaps in this experimental neurophysiologic concept for migraine. Key phenotypic and pharmacological features of migraine challenge the assumed...
journal_title:Expert review of neurotherapeutics
pub_type: 杂志文章,评审
doi:10.1586/ern.09.103
更新日期:2009-11-01 00:00:00
abstract::Clomipramine ushered in a new age of pharmacotherapy for obsessive-compulsive disorders, and it also facilitated our understanding of the biological aspects of obsessive-compulsive disorder, focusing on the serotonergic systems. The introduction of selective serotonin reuptake inhibitors has led to great progress in t...
journal_title:Expert review of neurotherapeutics
pub_type: 杂志文章,评审
doi:10.1586/14737175.6.7.945
更新日期:2006-07-01 00:00:00
abstract::Social anxiety disorder (SAD) is a prevalent, disabling disorder. We aimed to assess the effects of pharmacotherapy for SAD and to determine whether particular classes of medication are more effective and/or better tolerated than others. A systematic review and meta-analysis was conducted of all published and unpublis...
journal_title:Expert review of neurotherapeutics
pub_type: 杂志文章,评审
doi:10.1586/14737175.8.2.235
更新日期:2008-02-01 00:00:00
abstract::The American Academy of Neurology is an international professional organization of more than 22,000 neurologists and neuroscience professionals. This year the annual meeting was held in Toronto, ON, Canada. A large number of scientific sessions presented numerous advances in the diagnosis, molecular pathogenesis and t...
journal_title:Expert review of neurotherapeutics
pub_type:
doi:10.1586/ern.10.98
更新日期:2010-08-01 00:00:00
abstract::Introduction: The microbiota-gut brain (MGB) axis is the bidirectional communication between the intestinal microbiota and the brain. An increasing body of preclinical and clinical evidence has revealed that the gut microbial ecosystem can affect neuropsychiatric health. However, there is still a need of further studi...
journal_title:Expert review of neurotherapeutics
pub_type: 杂志文章,评审
doi:10.1080/14737175.2019.1638763
更新日期:2019-10-01 00:00:00
abstract::This article proposes a revision of the historical evolution of the concepts of generalized anxiety disorder (GAD). Currently, Darwin's evolutionary theory is the hegemonic paradigm for modern science and influences research on mental disorders. Throughout the 20th Century, the editions of the Diagnostic and Statistic...
journal_title:Expert review of neurotherapeutics
pub_type: 杂志文章,评审
doi:10.1586/ern.10.101
更新日期:2010-08-01 00:00:00
abstract::Schizophrenia is a debilitating and pervasive mental illness with devastating effects on psychological, cognitive and social wellbeing, and for which current treatment options are far from ideal. Gender differences and the influence of the female reproductive life cycle on the onset, course and symptoms of schizophren...
journal_title:Expert review of neurotherapeutics
pub_type: 杂志文章,评审
doi:10.1586/ern.12.62
更新日期:2012-07-01 00:00:00
abstract:INTRODUCTION:Amongst the 25.7 million survivors and 6.5 million deaths from stroke between 1990 and 2013, ischemic strokes accounted for approximately 70% and 50% of the cases, respectively. With patients still suffering from complications and stroke recurrence, more questions have been raised as to how we can better i...
journal_title:Expert review of neurotherapeutics
pub_type: 杂志文章
doi:10.1080/14737175.2021.1836963
更新日期:2021-01-01 00:00:00
abstract:INTRODUCTION:Patients with multiple sclerosis (MS) may suffer from spasticity and pain during their disease course. Baclofen, dantrolene, diazepam and gabapentin have been used as first-line options to treat these conditions, with modest results. Medical use of marijuana smoking has bypassed traditional clinical trials...
journal_title:Expert review of neurotherapeutics
pub_type: 杂志文章
doi:10.1080/14737175.2020.1776610
更新日期:2020-08-01 00:00:00
abstract::The prevalence rate of chronic pain is 15% to 25% in adults while the therapeutic arsenal is still insufficient, especially in relieving neuropathic pain. Peripheral pain transmission is conducted by the small Aδ and C sensory nerve fibres. They express elements from the renin-angiotensin-aldosterone system (RAAS), a ...
journal_title:Expert review of neurotherapeutics
pub_type: 杂志文章,评审
doi:10.1586/14737175.2016.1150179
更新日期:2016-01-01 00:00:00
abstract::Acute pain informs the individual that there is an imminent threat of body damage, and is associated with the urge to escape and avoid. Fear learning takes place when neutral stimuli receive the propensity to predict the occurrence of pain, and when defensive responses are initiated in anticipation of potential threat...
journal_title:Expert review of neurotherapeutics
pub_type: 杂志文章,评审
doi:10.1586/ern.10.115
更新日期:2010-11-01 00:00:00
abstract::Cyclooxygenase-2 specific inhibitors have anti-inflammatory and analgesic properties, and are effective in managing a wide range of chronic and acute painful conditions such as adult rheumatoid arthritis, osteoarthritis, migraine, primary dysmenorrhea and postoperative pain. Valdecoxib, an orally administered cyclooxy...
journal_title:Expert review of neurotherapeutics
pub_type: 杂志文章,评审
doi:10.1586/14737175.5.1.11
更新日期:2005-01-01 00:00:00
abstract::With advances in stereotactic and neuroimaging techniques, various minimally invasive image-guided techniques have gained widespread acceptance in the field of neuro-oncology. Laser interstitial thermal therapy (LITT) is an image-guided technique that involves generation of high temperatures using a laser fiber, to ab...
journal_title:Expert review of neurotherapeutics
pub_type: 杂志文章,评审
doi:10.1586/14737175.2016.1135736
更新日期:2016-01-01 00:00:00
abstract:INTRODUCTION:Pharmaceutical companies and the NIH have invested heavily in a variety of potential disease-modifying therapies for Alzheimer's disease (AD) but unfortunately all double-blind placebo-controlled Phase III studies of these drugs have failed to show statistically significant results supporting their clinica...
journal_title:Expert review of neurotherapeutics
pub_type: 杂志文章,评审
doi:10.1080/14737175.2016.1194203
更新日期:2017-01-01 00:00:00
abstract::Currently approved medications to treat cognitive deficits in Alzheimer's disease are targeting relatively late neurotransmission alterations and, thus, new approaches are needed to improve the observed modest efficacy. Employing various combinations of existing drugs is one way to achieve this aim. We can attempt to ...
journal_title:Expert review of neurotherapeutics
pub_type: 杂志文章,评审
doi:10.1586/ern.10.43
更新日期:2010-05-01 00:00:00
abstract::Pseudotumor cerebri (PTC) is characterized by intracranial hypertension without ventriculomegaly, in the absence of a mass lesion or meningeal process. When there is no secondary cause, it is termed 'idiopathic intracranial hypertension'. Headache is the most common symptom of PTC, present in over 90% of patients. The...
journal_title:Expert review of neurotherapeutics
pub_type: 杂志文章,评审
doi:10.1586/14737175.8.3.397
更新日期:2008-03-01 00:00:00
abstract::Generalized anxiety disorder is characterized by excessive chronic anxiety in association with many somatic symptoms. The disorder has pervasive effects on quality of life, including work, social and educational aspects and requires long-term therapy. Available studies in patients are the Diagnostic and Statistical Ma...
journal_title:Expert review of neurotherapeutics
pub_type: 杂志文章,评审
doi:10.1586/14737175.4.2.285
更新日期:2004-03-01 00:00:00
abstract:INTRODUCTION:The role of EEG in neonatal seizure detection is well-established, being the multichannel video-EEG the gold standard. However, in the clinical practice often amplitude integrated EEG (aEEG) is used, in order to overcome the difficulties related to EEG use. Areas covered: An overview regarding neonatal sei...
journal_title:Expert review of neurotherapeutics
pub_type: 杂志文章,评审
doi:10.1080/14737175.2018.1413352
更新日期:2018-02-01 00:00:00
abstract::The prognosis for patients with malignant glioma, the most common primary intracranial neoplasm, remains dismal despite significant progress in neuro-oncological therapies and technology. This stems from the inability of current treatment strategies to address the highly invasive nature of this disease. Malignant glia...
journal_title:Expert review of neurotherapeutics
pub_type: 杂志文章
doi:10.1586/14737175.3.6.883
更新日期:2003-11-01 00:00:00