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 affected. Genetic mitochondrial disease can be caused by nuclear gene defects and mitochondrial DNA defects. Mitochondrial medicine is rapidly expanding as exome and mtDNA sequencing is identifying new gene defects on a daily basis. This review will focus on primary genetic mitochondrial diseases that impair energy production and affect the nervous system, pathophysiology of disease, classical phenotypes, diagnosis, and treatment.
journal_name
Semin Neuroljournal_title
Seminars in neurologyauthors
Haas RH,Zolkipli Zdoi
10.1055/s-0034-1386770subject
Has Abstractpub_date
2014-07-01 00:00:00pages
321-40issue
3eissn
0271-8235issn
1098-9021journal_volume
34pub_type
杂志文章,评审abstract::With age, the presence of multiple neuropathologies in a single individual becomes increasingly common. Given that traumatic brain injury and the repetitive head impacts (RHIs) that occur in contact sports have been associated with the development of many neurodegenerative diseases, including chronic traumatic encepha...
journal_title:Seminars in neurology
pub_type: 杂志文章
doi:10.1055/s-0040-1713628
更新日期:2020-08-01 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::Pain is common but often underrecognized after stroke. Poststroke pain (PSP) hinders recovery, impairs quality of life, and is associated with the psychological state of patients with stroke. The most common subtypes of PSP include central PSP, complex regional pain syndrome, shoulder pain, spasticity-related pain, an...
journal_title:Seminars in neurology
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doi:10.1055/s-0040-1722641
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abstract::The field of neurocritical care has evolved tremendously in recent years, a development explained vastly by the advent of neurophysiological monitoring. From basic intracranial pressure measurements to brain tissue oxygenation, microdialysis, cerebral blood flow (CBF), and surface and intracortical electroencephalogra...
journal_title:Seminars in neurology
pub_type: 杂志文章,评审
doi:10.1055/s-0036-1592171
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journal_title:Seminars in neurology
pub_type: 杂志文章,评审
doi:10.1055/s-0031-1277985
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abstract::The diagnosis of inherited neuropathies can be challenging in several ways. First, a hereditary neuropathy must be suspected. Although some family histories are clear with multiple members affected, other families require directed inquiry. Second, even when a hereditary neuropathy is clear, it can be difficult to make...
journal_title:Seminars in neurology
pub_type: 杂志文章,评审
doi:10.1055/s-0030-1267281
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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
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abstract::Pseudotumor cerebri syndrome (PTCS) is a rare condition in children presenting with headache and papilledema from increased intracranial pressure that can cause significant morbidity. This can be idiopathic, also known as idiopathic intracranial hypertension or primary intracranial hypertension, or can be secondary to...
journal_title:Seminars in neurology
pub_type: 杂志文章
doi:10.1055/s-0040-1708847
更新日期:2020-06-01 00:00:00
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 prop...
journal_title:Seminars in neurology
pub_type: 杂志文章,评审
doi:10.1055/s-2007-971170
更新日期:2007-04-01 00:00:00
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journal_title:Seminars in neurology
pub_type: 杂志文章,评审
doi:10.1055/s-0036-1571952
更新日期:2016-02-01 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::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::Synucleinopathies, with and without dementia, encompass a wide range of diseases including Parkinson's disease, multiple system atrophy, rapid eye movement (REM) sleep behavior disorder, and dementia with Lewy bodies (DLB). DLB is a neurodegenerative disorder resulting in slowly progressive and unrelenting dementia un...
journal_title:Seminars in neurology
pub_type: 杂志文章,评审
doi:10.1055/s-2006-956754
更新日期:2007-02-01 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::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
更新日期:2020-04-01 00:00:00
abstract::Charcot-Marie-Tooth (CMT) disease is caused by mutations in several genes expressed in myelinating Schwann cells and the axons they ensheathe. Typical patients present with distally accentuated motor weakness, muscle wasting, and sensory loss leading to significant and progressive clinical morbidity and impaired quali...
journal_title:Seminars in neurology
pub_type: 杂志文章,评审
doi:10.1055/s-2008-1062264
更新日期:2008-04-01 00:00:00
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 ...
journal_title:Seminars in neurology
pub_type: 杂志文章,评审
doi:10.1055/s-2001-17947
更新日期:2001-09-01 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::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::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::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::Nontraumatic spontaneous intracranial hemorrhage occurs most commonly into the subarachnoid space and brain parenchyma, in contrast to subdural and epidural hematomas that are usually traumatic. The differential diagnosis of nontraumatic subarachnoid hemorrhage includes intracranial aneurysm rupture and vascular malfo...
journal_title:Seminars in neurology
pub_type: 杂志文章,评审
doi:10.1055/s-0028-1083691
更新日期:2008-09-01 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::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
更新日期:2006-02-01 00:00:00
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
更新日期:2003-03-01 00:00:00
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
更新日期:2016-02-01 00:00:00
abstract::Over the past decade, there has been a dramatic evolution of genetic methodologies that can be used to identify genes contributing to disease. Initially, the focus was primarily on classical linkage analysis; more recently, genomewide association studies, and high-throughput whole genome and whole exome sequencing hav...
journal_title:Seminars in neurology
pub_type: 杂志文章
doi:10.1055/s-0033-1359313
更新日期:2013-09-01 00:00:00
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
更新日期:2014-04-01 00:00:00
abstract::The fields of neurology and psychiatry were originally practiced as a unitary model. As the fields dichotomized patients into "organic" and "functional," patients with medically unexplained symptoms fell between the borderlands. Despite their significant prevalence, somatoform disorders (SDs) are grossly under-recogni...
journal_title:Seminars in neurology
pub_type: 杂志文章,评审
doi:10.1055/s-0029-1223875
更新日期:2009-07-01 00:00:00
abstract::Pregnancy can precipitate new neurological diseases as a result of the alterations in physiology that accompany the pregnant state. The pregnant patient presenting with neurological problems poses both diagnostic and therapeutic challenges, often forcing the clinician to rely on neuroimaging as part of the workup. Thi...
journal_title:Seminars in neurology
pub_type: 杂志文章
doi:10.1055/s-2007-991123
更新日期:2007-11-01 00:00:00