Abstract:
:Mitochondrial oxidative phosphorylation (OXPHOS) disorders are a heterogeneous group of diseases with variable expression that often pose diagnostic dilemmas. Although definitive diagnosis of these disorders usually requires a muscle biopsy and mtDNA and enzymatic testing, standard metabolic studies including organic acid and amino acid analysis often provide useful findings that support an OXPHOS disease and the need for more invasive studies. In addition, the detection of possible metabolic derangements, such as elevated lactate levels, may lead to improved long-term outcomes for affected patients through the use of various treatment regimens. Similarly, long-term yearly monitoring of diagnosed OXPHOS patients with metabolic testing is also warranted.
journal_name
Semin Neuroljournal_title
Seminars in neurologyauthors
Dougherty FEdoi
10.1055/s-2001-17947subject
Has Abstractpub_date
2001-09-01 00:00:00pages
303-8issue
3eissn
0271-8235issn
1098-9021journal_volume
21pub_type
杂志文章,评审abstract::Epilepsy is one of the most common neurological conditions encountered worldwide. The development of newer antiepileptic drugs (AEDs) has expanded over recent years, and the use of such drugs for indications other than epilepsy has also broadened. These factors insure that the majority of health care providers will be...
journal_title:Seminars in neurology
pub_type: 杂志文章,评审
doi:10.1055/s-2002-36645
更新日期:2002-09-01 00:00:00
abstract::Deficiencies in reading and writing appear to be major and lasting handicaps for learning-disabled college students. However, gains have been made in program modifications for learning-disabled students in many higher education institutions. Many adults with learning disabilities find that their handicap makes it diff...
journal_title:Seminars in neurology
pub_type: 杂志文章,评审
doi:10.1055/s-2008-1041207
更新日期:1991-03-01 00:00:00
abstract::Benign paroxysmal positional vertigo (BPPV) is common, sometimes terrifying, but rarely portends serious disease. It is usually easily diagnosed and treated, and both the patient and the physician are immediately gratified. While much has been learned about the pathogenesis of BPPV in the past decades, many of its fea...
journal_title:Seminars in neurology
pub_type: 杂志文章
doi:10.1055/s-0039-3402733
更新日期:2020-02-01 00:00:00
abstract::Mitochondrial diseases are multiorgan system disorders and the brain is the most commonly affected organ. The high-energy requirement of the brain leaves it vulnerable to energy failure. All components of the neuraxis including muscle, the neuromuscular junction, peripheral nerve, spinal cord, and brain can be affecte...
journal_title:Seminars in neurology
pub_type: 杂志文章,评审
doi:10.1055/s-0034-1386770
更新日期:2014-07-01 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::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::Intracerebral hemorrhage (ICH), which constitutes 10 to 15% of all strokes and affects approximately 65,000 people each year in the United States, has the highest mortality rate of all stroke subtypes. Hypertension, cerebral amyloid angiopathy, and anticoagulation underlie the majority of cases of ICH. Warfarin not on...
journal_title:Seminars in neurology
pub_type: 杂志文章,评审
doi:10.1055/s-2005-923538
更新日期:2005-12-01 00:00:00
abstract::Dopamine agonists provide an effective means of treating early, middle, and late stages of Parkinson's disease. This article outlines the advantages and disadvantages of dopamine agonists as compared with levodopa therapy. The features and costs of the four Food and Drug Administration-approved agonists (bromocriptine...
journal_title:Seminars in neurology
pub_type: 杂志文章,评审
doi:10.1055/s-2001-13114
更新日期:2001-01-01 00:00:00
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
更新日期:2016-06-01 00:00:00
abstract::A recent development in the evaluation of peripheral neuropathy patients has been the identification of autoantibodies directed against various peripheral nerve antigens. For some conditions, assay for the antibodies can be very helpful in confirming a diagnosis. In others, an antibody may be associated with clinical ...
journal_title:Seminars in neurology
pub_type: 杂志文章,评审
doi:10.1055/s-2008-1040864
更新日期:1998-01-01 00:00:00
abstract::There are many unique characteristics in elderly patients with epilepsy. The incidence of seizure in this age group is the highest of any age group and continues to increase as people live longer. Etiology of seizures is different than for adults and includes cerebrovascular disease, dementia, closed head injury, and ...
journal_title:Seminars in neurology
pub_type: 杂志文章,评审
doi:10.1055/s-2008-1079338
更新日期:2008-07-01 00:00:00
abstract::Status epilepticus is a neurological emergency with an outcome that is highly associated with the initial pharmacotherapy management that must be administered in a timely fashion. Beyond first-line therapy of status epilepticus, treatment is not guided by robust evidence. Optimal pharmacotherapy selection for individu...
journal_title:Seminars in neurology
pub_type: 杂志文章
doi:10.1055/s-0040-1718721
更新日期:2020-12-01 00:00:00
abstract::Reported PET findings in subcortical and corticobasal degenerations, and in dystonia, are summarized in Table 3. It can be seen that, although PET is not a diagnostic technique, clinical examination combined with PET findings can help to distinguish between the various akinetic-rigid syndromes, with the proviso that p...
journal_title:Seminars in neurology
pub_type: 杂志文章,评审
doi:10.1055/s-2008-1041345
更新日期:1989-12-01 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
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
更新日期:2020-06-01 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::Stroke in the distribution of the posterior circulation may present as acute onset spontaneous vertigo and imbalance. Although vertigo due to posterior circulation stroke is usually associated with other neurologic symptoms or signs, small infarcts in the cerebellum or brainstem can present with vertigo without other ...
journal_title:Seminars in neurology
pub_type: 杂志文章,评审
doi:10.1055/s-0033-1354600
更新日期:2013-07-01 00:00:00
abstract::The clinical history and neurological examination provide the most important data on which the diagnosis of autoimmune myasthenia gravis (MG) is based. MG produces symptomatic weakness that predominates in certain muscle groups and typically fluctuates in response to effort and rest. The diagnosis of MG therefore depe...
journal_title:Seminars in neurology
pub_type: 杂志文章,评审
doi:10.1055/s-2004-829594
更新日期:2004-03-01 00:00:00
abstract::The optic nerve is our most important cranial nerve. As it courses from the eyeball to the brain, it is divided into four segments: intraocular, intraorbital, intracanalicular, and intracranial. Four tests are primarily used to assess its functional integrity and detect optic nerve disorders. These tests are described...
journal_title:Seminars in neurology
pub_type: 杂志文章,评审
doi:10.1055/s-0028-1124020
更新日期:2009-02-01 00:00:00
abstract::Severe brain injury may cause disruption of neural networks that sustain arousal and awareness, the two essential components of consciousness. Despite the potentially devastating immediate and long-term consequences, disorders of consciousness (DoC) are poorly understood in terms of their underlying neurobiology, the ...
journal_title:Seminars in neurology
pub_type: 杂志文章,评审
doi:10.1055/s-0037-1607310
更新日期:2017-10-01 00:00:00
abstract::Epidemiological and individual case studies indicate that genetic factors play a significant role in the genesis of Alzheimer Disease (AD). To date, molecular genetic studies in families multiply affected with AD have identified three genes (Presenilin 1-PS1, Presenilin 2-PS2, and beta-amyloid precursor protein--betaA...
journal_title:Seminars in neurology
pub_type: 杂志文章,评审
doi:10.1055/s-2008-1040852
更新日期:1999-01-01 00:00:00
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::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
更新日期:2004-06-01 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::Magnetic resonance imaging plays a key role in diagnosis and treatment monitoring of brain tumors. Novel imaging techniques that specifically interrogate aspects of underlying tumor biology and biochemical pathways have great potential in neuro-oncology. This review focuses on the emerging role of 2-hydroxyglutarate-t...
journal_title:Seminars in neurology
pub_type: 杂志文章,评审
doi:10.1055/s-0037-1618600
更新日期:2018-02-01 00:00:00
abstract::The catecholamines dopamine and norepinephrine are key central neurotransmitters that participate in many neurobehavioral processes and disease states. Norepinephrine is also the main neurotransmitter mediating regulation of the circulation by the sympathetic nervous system. Several neurodegenerative disorders feature...
journal_title:Seminars in neurology
pub_type: 杂志文章
doi:10.1055/s-0040-1713874
更新日期:2020-10-01 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::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
更新日期:1990-09-01 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::Autoimmune encephalopathy represents a complex category of disease with diverse immunologic associations, clinical manifestations, and therapeutic outcomes. Three main subgroups include autoimmune encephalopathies without cancer but with neural nonspecific serologic evidence of autoimmunity (encompassing "Hashimoto's ...
journal_title:Seminars in neurology
pub_type: 杂志文章,评审
doi:10.1055/s-0031-1277985
更新日期:2011-04-01 00:00:00