Genetic basis of autonomic dysfunction.

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 catecholamine metabolism and relate specific catecholaminergic phenotypes to neurogenetic disorders. Distinctive catecholamine patterns in several neurogenetic conditions may reflect direct or indirect effects of gene mutations. These neurochemical patterns can provide potentially important clues to the diagnosis, treatment, and pathophysiology of neurogenetic disorders.

journal_name

Semin Neurol

journal_title

Seminars in neurology

authors

Taneja I,Robertson D

doi

10.1055/s-2004-817723

subject

Has Abstract

pub_date

2003-12-01 00:00:00

pages

391-7

issue

4

eissn

0271-8235

issn

1098-9021

journal_volume

23

pub_type

杂志文章,评审
  • Myasthenia gravis: diagnostic mimics.

    abstract::The clinical hallmark of myasthenia gravis (MG) is fluctuating, painless weakness of muscles that most often affect extraocular, lower bulbar, or limb musculature. Predicting the probability of successful treatment for the patient assumes that the physician has made an accurate diagnosis. In this review, the practical...

    journal_title:Seminars in neurology

    pub_type: 杂志文章,评审

    doi:10.1055/s-2004-830903

    authors: Engstrom JW

    更新日期:2004-06-01 00:00:00

  • Rasmussen Encephalitis: An Update.

    abstract::Rasmussen encephalitis (RE) is a rare, devastating, progressive pediatric epilepsy. First described 60 years ago, RE continues to present challenges in diagnosis and management. RE causes a unilateral focal epilepsy in children that typically becomes medically refractory, results in significant hemiparesis, and causes...

    journal_title:Seminars in neurology

    pub_type: 杂志文章

    doi:10.1055/s-0040-1708504

    authors: Cay-Martinez KC,Hickman RA,McKhann Ii GM,Provenzano FA,Sands TT

    更新日期:2020-04-01 00:00:00

  • Insomnia in neurological diseases.

    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

    authors: Provini F,Lombardi C,Lugaresi E

    更新日期:2005-03-01 00:00:00

  • Botulinum Toxin to Treat Neurogenic Bladder.

    abstract::Alteration in neural control from suprapontine areas to the nerves innervating the bladder can lead to bladder dysfunction and the development of a neurogenic bladder (NGB). Patients with NGB often suffer from urinary incontinence, which can lead to adverse events such as urinary tract infections and decubiti, in addi...

    journal_title:Seminars in neurology

    pub_type: 杂志文章,评审

    doi:10.1055/s-0035-1571216

    authors: Smith CP,Chancellor MB

    更新日期:2016-02-01 00:00:00

  • Neuropathologic changes of multiple system atrophy and diffuse Lewy body disease.

    abstract::The accumulation of fibrillar α-synuclein protein is the pathological hallmark occurring in both multiple system atrophy (MSA) and diffuse Lewy body disease (DLBD). The oligodendrocytes are especially involved in MSA, while subtypes of neurons are the targets in DLBD. In both instances, the changes are widespread with...

    journal_title:Seminars in neurology

    pub_type: 杂志文章,评审

    doi:10.1055/s-0034-1381732

    authors: Ramirez EP,Vonsattel JP

    更新日期:2014-04-01 00:00:00

  • The irreducible perspectives of consciousness.

    abstract::I argue that there is no mind-brain problem but rather that there are irreducible subjective-objective problems. These include the difference between "inside" and "outside" perspectives on neural states, the creation of subjective neural states with objectified outside objects, and awareness of the self as an object i...

    journal_title:Seminars in neurology

    pub_type: 杂志文章,评审

    doi:10.1055/s-2008-1040917

    authors: Feinberg TE

    更新日期:1997-06-01 00:00:00

  • Organic delusional syndrome.

    abstract::Delusions may be the most prominent manifestations of brain dysfunction, and a host of medical and neurologic conditions can present with or produce delusions. Recognition of the underlying disorder frequently aids in successful treatment. Comparison of organic delusional syndromes with schizophrenia suggests that lim...

    journal_title:Seminars in neurology

    pub_type: 杂志文章,评审

    doi:10.1055/s-2008-1041273

    authors: Gorman DG,Cummings JL

    更新日期:1990-09-01 00:00:00

  • Sleepiness.

    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

    authors: Ellenbogen JM

    更新日期:2016-10-01 00:00:00

  • Autoimmune Epilepsy: The Evolving Science of Neural Autoimmunity and Its Impact on Epilepsy Management.

    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

    authors: Quek AML,O'Toole O

    更新日期:2018-06-01 00:00:00

  • Prognosis and Treatment of Visual Field Defects.

    abstract::Visual field deficits are common in neurologic disease conditions such as cerebrovascular disease, traumatic brain injury, and brain tumors. Loss of visual fields may lead to impairment of reading skills (hemianopic dyslexia) and limitations of daily activities such as driving, which can have a significant impact on a...

    journal_title:Seminars in neurology

    pub_type: 杂志文章,评审

    doi:10.1055/s-0035-1563573

    authors: Agarwal A,Kedar S

    更新日期:2015-10-01 00:00:00

  • Optimal dietary habits for the prevention of stroke.

    abstract::Diet may influence stroke risk via several mechanisms, but the optimal dietary habits for stroke prevention are not well established. We reviewed English-language MEDLINE publications from January 1979 through November 2004 for experimental, observational, and clinical studies of dietary factors (minerals, fats, chole...

    journal_title:Seminars in neurology

    pub_type: 杂志文章,评审

    doi:10.1055/s-2006-933305

    authors: Ding EL,Mozaffarian D

    更新日期:2006-02-01 00:00:00

  • Causes of imbalance and abnormal gait that may be misdiagnosed.

    abstract::Disorders of gait and balance are common in medicine and often lead to referral for neurologic evaluation. Because the maintenance of balance and normal gait are mediated by complex neurologic pathways as well as musculoskeletal, metabolic, and behavioral considerations, the list of possible contributing causes is ver...

    journal_title:Seminars in neurology

    pub_type: 杂志文章,评审

    doi:10.1055/s-0033-1354601

    authors: Shill HA,Fife TD

    更新日期:2013-07-01 00:00:00

  • Pulmonary function screening.

    abstract::Patients who suffer from neuromuscular diseases often have complications from respiratory insufficiencies. Some neuromuscular diseases, for example Landry Guillain-Barré syndrome, may only require temporary tracheal intubation; patients with other neuromuscular diseases, such as amyotrophic lateral sclerosis, may deci...

    journal_title:Seminars in neurology

    pub_type: 杂志文章,评审

    doi:10.1055/s-2003-40756

    authors: Gelinas DF

    更新日期:2003-03-01 00:00:00

  • Mitochondrial Causes of Epilepsy: Evaluation, Diagnosis, and Treatment.

    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

    authors: Steele HE,Chinnery PF

    更新日期:2015-06-01 00:00:00

  • Myotonic Disorders and Channelopathies.

    abstract::Myotonic dystrophies and channelopathies are rare but important causes of muscle diseases which may present with myotonia, episodic attacks of weakness, fixed muscle weakness, and atrophy or their combination. Here, the authors provide an overview of these disorders and describe their clinical and pathophysiological f...

    journal_title:Seminars in neurology

    pub_type: 杂志文章,评审

    doi:10.1055/s-0035-1558979

    authors: Quinn C,Salajegheh MK

    更新日期:2015-08-01 00:00:00

  • Alteplase and Adjuvant Therapies for Acute Ischemic Stroke.

    abstract::Acute ischemic stroke (AIS) is a time sensitive medical emergency and a leading cause of morbidity and mortality worldwide. Intravenous (IV) recombinant tissue plasminogen activator (IV alteplase) is currently the only proven effective medication for the treatment of AIS with promising adjuvant medications currently u...

    journal_title:Seminars in neurology

    pub_type: 杂志文章

    doi:10.1055/s-0040-1722720

    authors: Gottula AL,Barreto AD,Adeoye O

    更新日期:2021-01-20 00:00:00

  • Leptomeningeal metastasis.

    abstract::Leptomeningeal metastasis occurs in ~5% of all patients with cancer and is the third most common metastatic complication of the central nervous system. Staging of leptomeningeal metastasis includes contrast-enhanced brain and spine magnetic resonance imaging and radionuclide cerebrospinal fluid (CSF) flow study. Treat...

    journal_title:Seminars in neurology

    pub_type: 杂志文章

    doi:10.1055/s-0030-1255220

    authors: Chamberlain MC

    更新日期:2010-07-01 00:00:00

  • Emery-Dreifuss muscular dystrophy.

    abstract::Emery-Dreifuss muscular dystrophy (EDMD) is the third most common X-linked muscular dystrophy. This disorder is characterized by childhood onset of early contractures, humeroperoneal muscle atrophy, and cardiac conduction abnormalities. Weakness is slowly progressive, but there is a broad spectrum of clinical severity...

    journal_title:Seminars in neurology

    pub_type: 杂志文章,评审

    doi:10.1055/s-2008-1040827

    authors: Zacharias AS,Wagener ME,Warren ST,Hopkins LC

    更新日期:1999-01-01 00:00:00

  • Parkinsonism.

    abstract::Parkinsonism is a clinical syndrome, which is characterized by bradykinesia, rigidity, rest tremor, and postural instability. Idiopathic Parkinson disease (PD) is the most common cause of this syndrome, though there are several other important etiologies that must be considered. These include the atypical Parkinsonian...

    journal_title:Seminars in neurology

    pub_type: 杂志文章,评审

    doi:10.1055/s-0036-1585097

    authors: Keener AM,Bordelon YM

    更新日期:2016-08-01 00:00:00

  • Progressive multifocal leukoencephalopathy.

    abstract::Before the AIDS epidemic, progressive multifocal leukoencephalopathy (PML) was a rare disorder occurring most often in association with leukemia and lymphoma. Current estimates indicate that PML ultimately develops in up to 5% of all patients with AIDS. This demyelinating disease results from infection with JC virus, ...

    journal_title:Seminars in neurology

    pub_type: 杂志文章,评审

    doi:10.1055/s-2008-1040837

    authors: Berger JR,Major EO

    更新日期:1999-01-01 00:00:00

  • MR spectroscopy in diagnosis and neurological decision-making.

    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

    authors: Xu V,Chan H,Lin AP,Sailasuta N,Valencerina S,Tran T,Hovener J,Ross BD

    更新日期:2008-09-01 00:00:00

  • Neuroimaging in Cardiac Arrest Prognostication.

    abstract::Neuroimaging is commonly utilized in the evaluation of post-cardiac arrest patients, providing a unique ability to visualize and quantify structural brain injury that can complement clinical and electrophysiologic data. Despite its lack of validation, we would advocate that neuroimaging is a valuable prognostication t...

    journal_title:Seminars in neurology

    pub_type: 杂志文章,评审

    doi:10.1055/s-0036-1594253

    authors: Greer DM,Wu O

    更新日期:2017-02-01 00:00:00

  • Early postpartum headache: case discussions.

    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

    authors: Cardona L,Klein AM

    更新日期:2011-09-01 00:00:00

  • Alphabet soup: a personal, evolving, mostly evidence-based and logical, sequential approach to the "ABCNR" drugs in multiple sclerosis.

    abstract::With the development of multiple options for immunotherapy in multiple sclerosis, the clinician is faced with the challenge of keeping pace with the literature, acquiring familiarity with the various treatment options and opinions, and then offering the patients the most current and appropriate management. Given the i...

    journal_title:Seminars in neurology

    pub_type: 杂志文章,评审

    doi:10.1055/s-2002-33045

    authors: Mattson DH

    更新日期:2002-03-01 00:00:00

  • Neuromusculoskeletal syndromes in wheelchair athletes.

    abstract::With the growth of wheelchair athletics at both grassroots and national levels, there has been an increased incidence of sports-related and overuse syndromes in the wheelchair-user population. This article provides an overview of the available literature on the incidence, prevalence, evaluation, prevention, and rehabi...

    journal_title:Seminars in neurology

    pub_type: 杂志文章,评审

    doi:10.1055/s-2000-9829

    authors: Groah SL,Lanig IS

    更新日期:2000-01-01 00:00:00

  • Predictors of Long-Term Neurodevelopmental Outcome of Hypoxic-Ischemic Encephalopathy Treated with Therapeutic Hypothermia.

    abstract::Hypoxic-ischemic encephalopathy (HIE) is a manifestation of perinatal asphyxial insult that continues to evolve over days to weeks following the initial injury. Therapeutic hypothermia has demonstrated that a proportion of this secondary brain injury may indeed be preventable. However, therapeutic hypothermia has also...

    journal_title:Seminars in neurology

    pub_type: 杂志文章

    doi:10.1055/s-0040-1702939

    authors: Goswami I,Guillot M,Tam EWY

    更新日期:2020-06-01 00:00:00

  • Percutaneous vertebroplasty: an emerging therapy for vertebral compression fractures.

    abstract::Osteoporosis is a debilitating disease that occurs in epidemic proportions in Western societies and has a large economic impact. Percutaneous vertebroplasty is successful in alleviating subacute and chronic pain caused by osteoporotic compression fractures and pathological vertebral fractures from tumor infiltration. ...

    journal_title:Seminars in neurology

    pub_type: 杂志文章,评审

    doi:10.1055/s-2002-36538

    authors: Ng PP,Caragine LP Jr,Dowd CF

    更新日期:2002-06-01 00:00:00

  • Stroke in Pregnancy.

    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

    authors: Sells CM,Feske SK

    更新日期:2017-12-01 00:00:00

  • Neurothermography.

    abstract::Neurothermography is a new, clinically useful method of detecting autonomic sympathetic peripheral nerve dysfunction. Body symmetry of the skin temperature as maintained by symmetrically functional peripheral nerves is the key to detecting a normal state. Persistent 1 degree C temperature asymmetry in the pattern of a...

    journal_title:Seminars in neurology

    pub_type: 杂志文章,评审

    doi:10.1055/s-2008-1041432

    authors: Green J

    更新日期:1987-12-01 00:00:00

  • Predicting Outcome for Intracerebral Hemorrhage Patients: Current Tools and Their Limitations.

    abstract::Accurate outcome prognostication is critical to the management of patients with primary or spontaneous intracerebral hemorrhage (ICH). Prognostication may guide the decision to pursue aggressive acute management or to plan proper goals of care for patients who will likely suffer long-term severe disability. In particu...

    journal_title:Seminars in neurology

    pub_type: 杂志文章

    doi:10.1055/s-0036-1581992

    authors: Chu SY,Hwang DY

    更新日期:2016-06-01 00:00:00