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--betaAPP) associated with highly penetrant early onset AD, and one gene (Apolipoprotein E) associated with late onset AD. A fifth potential AD susceptibility locus has been mapped to a broad region of chromosome 12, but the responsible gene defect has not yet been identified. Case-control studies comparing the frequency of alleles in numerous other candidate genes have identified a number of additional potential AD genes. However, methodological difficulties and conflicting results in follow-up studies, make it unclear whether allelic variations in these genes are truly pathogenic. Nevertheless, analysis of the biochemical effects of mutations in PS1, PS2, betaAPP at least, suggest a common biochemical effect-namely disturbances in the processing of betaAPP protein. In addition to utility in defining potential therapeutic targets, in some circumstances these genes can also potentially be used as adjunctives in clinical presymptomatic, symptomatic or pharmacogenomic diagnosis.
journal_name
Semin Neuroljournal_title
Seminars in neurologyauthors
St George-Hyslop PHdoi
10.1055/s-2008-1040852subject
Has Abstractpub_date
1999-01-01 00:00:00pages
371-83issue
4eissn
0271-8235issn
1098-9021journal_volume
19pub_type
杂志文章,评审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::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::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::Blepharospasm is a focal dystonia characterized by involuntary, repetitive eye closure. Orofacial and oromandibular dystonia describe involuntary dystonic movements of orofacial and oromandibular musculature. Hemifacial spasm is characterized by repetitive synchronous contraction of facial nerve innervated muscles on ...
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::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::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
更新日期:2000-01-01 00:00:00
abstract::Parkinson's disease (PD) is a significant neurodegenerative disease of the elderly, affecting 1 to 2% of those over 60 years of age. The disorder is characterized by resting tremor, bradykinesia, rigidity, postural instability, and pathologically by alpha-synuclein-positive Lewy bodies. For most, the etiology is unkno...
journal_title:Seminars in neurology
pub_type: 杂志文章,评审
doi:10.1055/s-2006-951621
更新日期:2006-11-01 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::Idiopathic intracranial hypertension (IIH), also known as pseudotumor cerebri, is a disease primarily affecting obese women of child-bearing age, typically presenting with positional headaches, diplopia from abducens nerve palsies, pulse-synchronous tinnitus, and visual disturbances related to papilledema, including t...
journal_title:Seminars in neurology
pub_type: 杂志文章,评审
doi:10.1055/s-0039-3399506
更新日期:2019-12-01 00:00:00
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
更新日期:2017-02-01 00:00:00
abstract::Physician-hastened-death remains a controversial topic for patients and those who care for them. It is a particularly relevant topic for neurologists who currently, or will in the future, reside in jurisdictions where physician-hastened-death is legal. In this article, I attempt to provide a comprehensive and contempo...
journal_title:Seminars in neurology
pub_type: 杂志文章,评审
doi:10.1055/s-0038-1668080
更新日期:2018-10-01 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::Treatment of dementias represents an important but relatively neglected part of neurological care of the elderly population. Individual therapeutic interventions may make only small changes to the quality of life of individuals afflicted with dementia, but when used in combination these interventions synergize and can...
journal_title:Seminars in neurology
pub_type: 杂志文章,评审
doi:10.1055/s-0039-1683408
更新日期:2019-04-01 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::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::Syndromes characterized by persistent fatigue, musculoskeletal pain, sleep disturbance, and subjective cognitive impairment have been common problems in clinical practice for decades. The chronic fatigue syndrome case definition was created to standardize the patient population in research studies and to foster a syst...
journal_title:Seminars in neurology
pub_type: 历史文章,杂志文章,评审
doi:10.1055/s-2008-1040876
更新日期:1998-01-01 00:00:00
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
更新日期:1997-06-01 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::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::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
更新日期:2016-12-01 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::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
更新日期:2002-06-01 00:00:00
abstract::The use of technology in neurology education has revolutionized many aspects of medical teaching, addressing some important challenges of modern education such as information overload and the unique needs of millennial learners. However, it also has inherent problems, such as depersonalization and high development cos...
journal_title:Seminars in neurology
pub_type: 杂志文章,评审
doi:10.1055/s-0038-1666985
更新日期:2018-08-01 00:00:00
abstract::Both general neurologists and neurologists with a broad spectrum of subspecialty interests are often asked to evaluate patients with disorders of the spinal cord. Over the past decade, there have been significant advances in our understanding of a wide spectrum of immune-mediated, infectious, metabolic, hereditary, pa...
journal_title:Seminars in neurology
pub_type: 杂志文章
doi:10.1055/s-0029-1244993
更新日期:2010-02-01 00:00:00
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
更新日期:1999-01-01 00:00:00
abstract::Vaccines have undoubtedly been a medical milestone, preventing immeasurable morbidity and mortality from infectious diseases worldwide. Modern vaccines have tremendously reduced the global impact of numerous infections; they have succeeded in eliminating smallpox completely. However, the nature by which vaccines confe...
journal_title:Seminars in neurology
pub_type: 杂志文章,评审
doi:10.1055/s-0031-1287655
更新日期:2011-07-01 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::Listeria monocytogenes infection of the central nervous system is often not recognized and treated appropriately in the crucial early stages of the disease. Most consider patients with underlying disease or immunocompromised states to be at risk, although healthy individuals may present with a neurologic syndrome caus...
journal_title:Seminars in neurology
pub_type: 杂志文章,评审
doi:10.1055/s-2000-9398
更新日期:2000-01-01 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::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