Abstract:
:During the last decade, we have witnessed significant advances in the study of inherited dystonias. This article will review some of those discoveries and summarize their significance for the practicing neurologist. A clinical classification of dystonia based on features that can be determined by the clinician is proposed, aiming to facilitate the evaluation of patients with suspected inherited dystonia. Subsequently, DYT1 dystonia is used as an example of how genetics can aid in the evaluation of patients presenting with this group of heritable diseases. Finally, a brief summary of the most significant recent advances in this field will focus on those aspects most helpful to the clinician.
journal_name
Semin Neuroljournal_title
Seminars in neurologyauthors
Gonzalez-Alegre Pdoi
10.1055/s-2007-971170subject
Has Abstractpub_date
2007-04-01 00:00:00pages
151-8issue
2eissn
0271-8235issn
1098-9021journal_volume
27pub_type
杂志文章,评审abstract::Upper limb recovery after a stroke is suboptimal. Only a few individuals achieve full functional use of the hemiparetic arm. Complex primary and secondary impairments may affect recovery of upper limb function in stroke survivors. In addition, multiple personal, social, behavioral, economic, and environmental factors ...
journal_title:Seminars in neurology
pub_type: 杂志文章,评审
doi:10.1055/s-0034-1396002
更新日期:2014-11-01 00:00:00
abstract::CPP reflects perfusion problems related to increased ICP or inadequate MAP. CPP is a most helpful and practical management tool. The relationship of CBF and CPP depends on cerebral vascular resistance (flow equals pressure divided by resistance). At present, we do not have a practical method to measure vascular resist...
journal_title:Seminars in neurology
pub_type: 杂志文章,评审
doi:10.1055/s-2008-1041328
更新日期:1989-09-01 00:00:00
abstract::Pregnancy and the postpartum period confer an increased risk of stroke. The risk appears to be increased for all strokes during the puerperium and for hemorrhagic strokes during pregnancy. During pregnancy, physiologic systems are under increased stress to accommodate the growing fetus, which results in substantial he...
journal_title:Seminars in neurology
pub_type: 杂志文章,评审
doi:10.1055/s-0037-1608940
更新日期:2017-12-01 00:00:00
abstract::With the advent of combination antiretroviral therapies, the mortality rate from HIV has declined, while the prevalence of long-term HIV-related neurologic complications continues to rise. Thirty-six million individuals are living with HIV around the world, many of whom reside in resource-limited settings. The majorit...
journal_title:Seminars in neurology
pub_type: 杂志文章
doi:10.1055/s-0038-1649334
更新日期:2018-04-01 00:00:00
abstract::Improved disease control is critical for enhancing the lives of those living with multiple sclerosis. With specific immunologic targets, monoclonal antibody (mAb) treatments are highly effective options for relapsing forms of multiple sclerosis. The mechanism, efficacy, and current safety profiles are detailed for the...
journal_title:Seminars in neurology
pub_type: 杂志文章,评审
doi:10.1055/s-0036-1579695
更新日期:2016-04-01 00:00:00
abstract::Sleep medicine can be a particularly rewarding clinical area for neurologists. After all, the driving organ of sleep is the brain. Many of the sleep disorders are primary brain disorders, whereas other sleep disorders (and their medications) influence brain function. But without an organized approach, even the engaged...
journal_title:Seminars in neurology
pub_type: 杂志文章,评审
doi:10.1055/s-0036-1586264
更新日期:2016-10-01 00:00:00
abstract::Psychogenic (nonepileptic) seizures are among the most common and serious of all psychogenic neurological disorders. They account for approximately 20% of all intractable seizure disorders referred to comprehensive epilepsy centers and present with a reported annual incidence of approximately 4% that of true epilepsy....
journal_title:Seminars in neurology
pub_type: 杂志文章
doi:10.1055/s-2006-945520
更新日期:2006-07-01 00:00:00
abstract::Neuropathic pain management is challenging, and typically requires a multifaceted approach. There are several treatment options, both pharmacologic and nonpharmacologic. Of the available pharmacologic agents, those with the strongest supporting evidence include tricyclic antidepressants, serotonin-norepinephrine reupt...
journal_title:Seminars in neurology
pub_type: 杂志文章,评审
doi:10.1055/s-0038-1673679
更新日期:2018-12-01 00:00:00
abstract::The muscular dystrophies are disorders of progressive muscular degeneration and weakness. As a group they display clinical heterogeneity that reflects the heterogeneity of molecular mechanisms responsible for them, and range from congenital to adulthood onset. Recent advances in the field include improved methods of d...
journal_title:Seminars in neurology
pub_type: 杂志文章,评审
doi:10.1055/s-0032-1329199
更新日期:2012-07-01 00:00:00
abstract::Chronic traumatic encephalopathy (CTE) is a neurodegenerative disease associated with repetitive head impacts (RHI), such as those received in contact/collision sports, blast injury in military veterans, and domestic violence. Currently, CTE can only be diagnosed following death. Although the clinical features of form...
journal_title:Seminars in neurology
pub_type: 杂志文章
doi:10.1055/s-0040-1713624
更新日期:2020-08-01 00:00:00
abstract::One of the most prolific chemical and anatomical imaging techniques of recent decades, magnetic resonance imaging (MRI), includes the ability to noninvasively assess neurochemical changes with magnetic resonance spectroscopy (MRS). Practical concerns are paramount in applying MRS, such as what the manufacturer provide...
journal_title:Seminars in neurology
pub_type: 杂志文章,评审
doi:10.1055/s-0028-1083685
更新日期:2008-09-01 00:00:00
abstract::In addition to sharing several clinical, pathologic, and molecular characteristics, many neurodegenerative disorders show extensive familial histories suggesting a substantial contribution of genetic factors to disease causation and progression. In this review, the authors provide overviews of the status of current ge...
journal_title:Seminars in neurology
pub_type: 杂志文章,评审
doi:10.1055/s-0031-1299791
更新日期:2011-11-01 00:00:00
abstract::Insomnia is the most common sleep complaint. Insomnia is not a disease itself but mostly a clinical sign of an underlying disease. Degenerative and vascular diseases involving the central nervous system (CNS) may impair sleep either as a result of the brain lesion or because of illness-related discomfort (motor immobi...
journal_title:Seminars in neurology
pub_type: 杂志文章,评审
doi:10.1055/s-2005-867074
更新日期:2005-03-01 00:00:00
abstract::Headaches are a common complaint for most women during their lifetime, including gestation and puerperium. Tension-type headaches and migraine flare-ups are the most common headache complications after delivery, but the differential diagnosis of postpartum headache is broad. The clinician must distinguish common heada...
journal_title:Seminars in neurology
pub_type: 杂志文章,评审
doi:10.1055/s-0031-1293537
更新日期:2011-09-01 00:00:00
abstract::Three-quarters of all strokes are managed outside of academic medical centers, making optimization of stroke care in the community setting a central part of minimizing the disability from stroke. In addition, the care of stroke patients crosses multiple different components of the health care system and requires a mul...
journal_title:Seminars in neurology
pub_type: 杂志文章,评审
doi:10.1055/s-2005-923528
更新日期:2005-12-01 00:00:00
abstract::The management of severe brain injury requires a comprehensive approach in which imaging is an indispensable complement to the clinical and physiological information acquired at the bedside. Neuroimaging methods are routinely used in the diagnosis and prognosis of a broad spectrum of patients with acute neurological d...
journal_title:Seminars in neurology
pub_type: 杂志文章,评审
doi:10.1055/s-0028-1105977
更新日期:2008-11-01 00:00:00
abstract::Despite decades of basic and clinical research, treatments to improve outcomes after traumatic brain injury (TBI) are limited. However, based on the recent recognition of the prevalence of mild TBI, and its potential link to neurodegenerative disease, many new and exciting secondary injury mechanisms have been identif...
journal_title:Seminars in neurology
pub_type: 杂志文章,评审
doi:10.1055/s-0035-1544237
更新日期:2015-02-01 00:00:00
abstract::Autoimmune epilepsy is increasingly recognized as a distinct clinical entity, driven in large part by the recent discovery of neural autoantibodies in patients with isolated or predominant epilepsy presentations. Detection of neural autoantibodies in high-risk epilepsy patients supports an immune-mediated cause of sei...
journal_title:Seminars in neurology
pub_type: 杂志文章,评审
doi:10.1055/s-0038-1660860
更新日期:2018-06-01 00:00:00
abstract::Establishing an open and honest physician-patient relationship is essential for the proper evaluation and management of headache disorders. Obtaining a complete headache and medical history is the most important part of the initial diagnostic evaluation. This history should include information about headache onset, pa...
journal_title:Seminars in neurology
pub_type: 杂志文章,评审
doi:10.1055/s-2008-1040943
更新日期:1997-01-01 00:00:00
abstract::The combination of neurologic disease and ichthyosis defines a heterogeneous group of rare inherited disorders that present in infancy through early adulthood. Although affected patients share the cutaneous feature of ichthyosis, there is variability in the nature and severity of neurologic disease. Impaired cognition...
journal_title:Seminars in neurology
pub_type: 杂志文章,评审
doi:10.1055/s-0032-1306390
更新日期:2012-02-01 00:00:00
abstract::Obstructive sleep apnea (OSA) is a very common condition in patients with stroke and is found in over half of stroke patients. There is a complex relationship between OSA and stroke, attributable to shared risk factors. There are numerous mechanisms by which OSA may contribute to increased stroke risk, including promo...
journal_title:Seminars in neurology
pub_type: 杂志文章,评审
doi:10.1055/s-2006-933315
更新日期:2006-02-01 00:00:00
abstract::The testing of reflexes involving the lower extremities is a pivotal part of the modern neurological examination. The normal response to noxious stimulation of the foot is plantar flexion of the toes, causing them to curl downward toward the undersurface of the foot. In 1896, Joseph Babinski described an extensor toe ...
journal_title:Seminars in neurology
pub_type: 传,历史文章,杂志文章
doi:10.1055/s-2002-36761
更新日期:2002-12-01 00:00:00
abstract::Multiple sclerosis (MS) affects more than 500,000 Americans, and it is commonly on the differential diagnosis associated with patient referrals to neurology offices. Diagnostically, there are several nuances to the established criteria. Understanding the usefulness of various tests and the potential diagnoses that can...
journal_title:Seminars in neurology
pub_type: 杂志文章
doi:10.1055/s-0029-1245004
更新日期:2010-02-01 00:00:00
abstract::With the increasing acceptance of the right of patients to refuse life-sustaining treatment, some have argued that terminally ill patients have a corollary right to physician-assisted suicide (PAS) on request. However, there are important moral and legal distinctions between patients' refusals of therapy and requests ...
journal_title:Seminars in neurology
pub_type: 杂志文章,评审
doi:10.1055/s-2008-1040939
更新日期:1997-01-01 00:00:00
abstract::Cognitive complaints are common in any adult neurology practice, and may present in a variety of ways other than classic "memory loss." In this article, the author reviews a simple approach to a symptom-based differential diagnosis, including recognition of impairment in several key cognitive domains as well as associ...
journal_title:Seminars in neurology
pub_type: 杂志文章,评审
doi:10.1055/s-0031-1271314
更新日期:2011-02-01 00:00:00
abstract::Neuroimmunologic and systemic rheumatic diseases are frequently accompanied by inflammation of the eye, ocular adnexa, and orbital tissues. An understanding of the diverse forms of ophthalmic pathology in these conditions aids the clinician in making appropriate preventative, diagnostic, therapeutic, and prognostic de...
journal_title:Seminars in neurology
pub_type: 杂志文章,评审
doi:10.1055/s-0034-1390393
更新日期:2014-09-01 00:00:00
abstract::Mitochondrial disorders are frequently associated with seizures. In this review, the authors discuss the seizure patterns and distinguishing features of mitochondrial epilepsy, alongside the indications for investigating, and how to investigate epilepsy from a mitochondrial perspective. Finally, they discuss managemen...
journal_title:Seminars in neurology
pub_type: 杂志文章,评审
doi:10.1055/s-0035-1552624
更新日期:2015-06-01 00:00:00
abstract::The human genome has become a roadmap for elucidation of the pathophysiology of disease. It is likely that mutations in more than 1000 of the approximately 30,000 human genes will lead to autonomic abnormalities, either directly or indirectly. This review highlights some of these, which exert major effects on catechol...
journal_title:Seminars in neurology
pub_type: 杂志文章,评审
doi:10.1055/s-2004-817723
更新日期:2003-12-01 00:00:00
abstract::Before embarking on expensive ancillary testing, it is crucial for the neurologist to distinguish visual loss due to optic nerve dysfunction from other causes of visual loss. This can usually be accomplished based on specific features of the history and bedside examination. Once it has been established that a patient ...
journal_title:Seminars in neurology
pub_type: 杂志文章,评审
doi:10.1055/s-2000-6836
更新日期:2000-01-01 00:00:00
abstract::The management of epilepsy in women encompasses a complex interplay between seizures, sex steroid hormones, and antiepileptic drugs (AEDs). These interactions impact every aspect of the sexual and reproductive health of women with epilepsy throughout their lifetimes. Neurologists comfortable treating seizures may feel...
journal_title:Seminars in neurology
pub_type: 杂志文章,评审
doi:10.1055/s-2007-985335
更新日期:2007-09-01 00:00:00