Abstract:
:Dementia, defined as progressive cognitive decline, is a feature of a wide variety of genetic disorders. For example, a search of "dementia" in the Online Mendelian Inheritance in Man (www.ncbi.nlm.nih.gov/Omim) reveals 162 entries. Therefore this article cannot be encyclopedic and will be necessarily restricted to more prevalent or illustrative etiologies of familial dementia in adults. These disorders also have in common an initial and primarily dementing clinical presentation. Thus, this article is limited to: familial Alzheimer's disease (AD) and related amyloid angiopathies, frontotemporal dementias (FTD) and related tauopathies, familial prion diseases, British and Danish familial dementias, and cerebral autosomal dominant arteriopathy with subcortical infarcts and leukoencephalopathy (CADASIL).
journal_name
Neurol Clinjournal_title
Neurologic clinicsauthors
Hedera P,Turner RSdoi
10.1016/s0733-8619(01)00020-2subject
Has Abstractpub_date
2002-08-01 00:00:00pages
779-808, viiissue
3eissn
0733-8619issn
1557-9875pii
S0733-8619(01)00020-2journal_volume
20pub_type
杂志文章,评审abstract::"Deep brain stimulation is a safe and effective therapy for the management of a variety of neurologic conditions with Food and Drug Administration or humanitarian exception approval for Parkinson disease, dystonia, tremor, and obsessive-compulsive disorder. Advances in neurophysiology, neuroimaging, and technology hav...
journal_title:Neurologic clinics
pub_type: 杂志文章,评审
doi:10.1016/j.ncl.2020.09.004
更新日期:2021-02-01 00:00:00
abstract::The authors highlight the potential importance of neuropeptides as clinical tools in the study and treatment of pain. Although many questions remain unanswered, it is encouraging that several clinical and experimental advances have shed new light on the neuropharmacology of nociception and have prompted new hope for m...
journal_title:Neurologic clinics
pub_type: 杂志文章,评审
doi:
更新日期:1986-11-01 00:00:00
abstract::Personal experience indicates we sleep differently when sick. Data reviewed demonstrate the extent to which sleep is altered during the course of infection of host organisms by several classes of pathogens. One important unanswered question is whether or not the alterations in sleep during infection are of functional ...
journal_title:Neurologic clinics
pub_type: 杂志文章,评审
doi:10.1016/j.ncl.2006.03.002
更新日期:2006-08-01 00:00:00
abstract::The last 2 decades represent a period of unparalleled advancement in the understanding of the pathogenesis of Parkinson disease (PD). The discovery of several forms of familial parkinsonism with mendelian inheritance has elucidated insights into the mechanisms underlying the degeneration of dopaminergic neurons of the...
journal_title:Neurologic clinics
pub_type: 杂志文章,评审
doi:10.1016/j.ncl.2014.09.010
更新日期:2015-02-01 00:00:00
abstract::Given the magnitude of the problem of motor fluctuations in patients who have Parkinson's disease treated with levodopa, a significant effort has been expended by physicians, researchers, and pharmaceutical manufacturers over the years to find effective treatments. This article briefly reviews the medical options for ...
journal_title:Neurologic clinics
pub_type: 杂志文章,评审
doi:10.1016/j.ncl.2008.05.006
更新日期:2008-08-01 00:00:00
abstract::Mortality and morbidity from kidney disease and the spectrum of renal-associated neurologic disease have changed markedly since the introduction of renal dialysis and with the advent of renal transplantation. This article includes historical studies of the neurologic complications of acute uremia, now fairly uncommon,...
journal_title:Neurologic clinics
pub_type: 杂志文章,评审
doi:10.1016/s0733-8619(03)00052-5
更新日期:2002-02-01 00:00:00
abstract::Research models show a strong interrelationship between sleep quality and immune function. The proinflammatory cytokines, interleukin-1, interleukin-6, and tumor necrosis factor α are classified as official sleep-regulatory substances. However, sleep-promoting properties are also possessed by several other immune and ...
journal_title:Neurologic clinics
pub_type: 杂志文章,评审
doi:10.1016/j.ncl.2012.08.007
更新日期:2012-11-01 00:00:00
abstract::Since its clinical introduction in the early 1980s, MRI has transformed the practice of differential diagnosis and disease monitoring for disorders affecting the central nervous system, in particular multiple sclerosis and the allied inflammatory demyelinating diseases. Widespread and dynamic inflammatory processes of...
journal_title:Neurologic clinics
pub_type: 杂志文章,评审
doi:10.1016/j.ncl.2008.09.012
更新日期:2009-02-01 00:00:00
abstract::Nonsurgical, conservative approaches to spine pain include medication and physical therapy. In addition, several invasive procedures have been developed to provide relief when conservative options fail. These include facet joint injection and radiofrequency ablation techniques, translaminar and transforaminal epidural...
journal_title:Neurologic clinics
pub_type: 杂志文章,评审
doi:10.1016/j.ncl.2007.01.010
更新日期:2007-05-01 00:00:00
abstract::The appropriate diagnosis of the patient with epilepsy is first dependent on a determination of the type of seizure. When the type of seizure has been determined, consideration must be given to the nature of the epileptic syndrome, including concerns regarding the etiology of the attacks. The gradual evolution of the ...
journal_title:Neurologic clinics
pub_type: 杂志文章
doi:
更新日期:1986-08-01 00:00:00
abstract::Myasthenia gravis is an autoimmune disorder characterized by fluctuating weakness of extraocular and proximal limb muscles. It occurs in 1 in 5000 in the overall population and is 2 times more common in women than men. The onset in women is most common in the third decade, and risk of severe exacerbation occurs most f...
journal_title:Neurologic clinics
pub_type: 杂志文章,评审
doi:10.1016/j.ncl.2018.09.003
更新日期:2019-02-01 00:00:00
abstract::This article reviews the evidence for comorbidity of migraine with psychiatric disorders, particularly the affective and anxiety disorders. Studies of the association between migraine and depression in both clinical and community studies have provided consistent evidence regarding a substantial degree of comorbidity b...
journal_title:Neurologic clinics
pub_type: 杂志文章,评审
doi:10.1016/s0733-8619(05)70298-x
更新日期:1997-02-01 00:00:00
abstract::Echocardiography is an established technology encompassing an increasingly wide variety of clinical situations including cardioembolism and the detection of CAD in patients with cerebral ischemia and in patients undergoing neurovascular surgery. Echocardiography will continue to occupy a pivotal role in clinical manag...
journal_title:Neurologic clinics
pub_type: 杂志文章,评审
doi:
更新日期:1993-05-01 00:00:00
abstract::Traumatic brain injury is a common and complex clinical entity that deserves better and continued research on interventions and initial treatment postinjury. Current medical management of traumatic brain injury is articulated on minimizing secondary injury by optimizing cerebral perfusion and oxygenation and preventin...
journal_title:Neurologic clinics
pub_type: 杂志文章,评审
doi:10.1016/j.ncl.2008.02.001
更新日期:2008-05-01 00:00:00
abstract::The epidemiology of vasculitis has witnessed extraordinary advances in the past decade influenced by the worldwide increased recognition and accurate classification and diagnosis of the vasculitides, and insights brought by genome-wide association studies and other genetic investigations that contribute to the underst...
journal_title:Neurologic clinics
pub_type: 历史文章,杂志文章,评审
doi:10.1016/j.ncl.2016.06.006
更新日期:2016-11-01 00:00:00
abstract::Neuropathies due to nutritional problems can affect certain patient populations and have a varied presentation because of multiple coexistent nutritional deficiencies. Clinicians should consider nutritional neuropathies in patients presenting with neuropathies. Clinicians should be alert for signs and symptoms of neur...
journal_title:Neurologic clinics
pub_type: 杂志文章,评审
doi:10.1016/j.ncl.2013.02.002
更新日期:2013-05-01 00:00:00
abstract::Reflex sympathetic dystrophy (RSD) and causalgia appear to reflect identical pictures even though the latter is related to nerve injury and the former is not. Overriding past and present skepticism about a role for the sympathetic system in their cause and treatment, the International Association for the Study of Pain...
journal_title:Neurologic clinics
pub_type: 杂志文章,评审
doi:
更新日期:1995-05-01 00:00:00
abstract::Aggression is a serious medical problem that can place both the patient and the health care provider at risk. Aggression can result from medical, neurologic, and/or psychiatric disorders. A comprehensive patient evaluation is needed. Treatment options include pharmacotherapy as well as nonpharmacologic interventions, ...
journal_title:Neurologic clinics
pub_type: 杂志文章,评审
doi:10.1016/j.ncl.2010.10.006
更新日期:2011-02-01 00:00:00
abstract::The dysphagia of ALS is characterized by an impaired oral stage of swallowing, which has a direct impact on the seemingly more robust pharyngeal stage. Increased duration of the volitional stage (PPRT) of swallowing, including DT and lingual motility deficits, appear to be the major contributors to the dysphagia. The ...
journal_title:Neurologic clinics
pub_type: 杂志文章
doi:
更新日期:1987-05-01 00:00:00
abstract::There is often a fine line between medical malpractice and maloccurrance. Physicians need to develop techniques and skills that enhance the patient-physician relationship based on honesty and informed consent. Documentation and proper maintenance of medical records is demanded by the current legal and health care syst...
journal_title:Neurologic clinics
pub_type: 杂志文章
doi:10.1016/s0733-8619(05)70376-5
更新日期:1998-02-01 00:00:00
abstract::Our recommendations for the evaluation of the patient with suspected cardiogenic syncope are as follows: An initial thorough history and physical examination of the patient will suggest the diagnosis of cardiogenic syncope in at least 50 per cent of patients. A sudden occurrence of syncope, or "drop attack", is most s...
journal_title:Neurologic clinics
pub_type: 杂志文章,评审
doi:
更新日期:1986-08-01 00:00:00
abstract::Overall, the majority of patients with optic pathway tumors will have stable disease regardless if they are radiated or receive chemotherapy. This is a very indolent tumor system and, for the most part, not a threat to life. Because of this, issues regarding appropriate therapeutic approaches have yet to be resolved. ...
journal_title:Neurologic clinics
pub_type: 杂志文章,评审
doi:
更新日期:1991-05-01 00:00:00
abstract::This article discusses antibodies associated with immune-mediated myasthenia gravis and the pathologic action of these antibodies at the neuromuscular junctions of skeletal muscle. To explain how these antibodies act, we consider the physiology of neuromuscular transmission with emphasis on 4 features: the structure o...
journal_title:Neurologic clinics
pub_type: 杂志文章,评审
doi:10.1016/j.ncl.2018.01.001
更新日期:2018-05-01 00:00:00
abstract::The reasonable clinical approach to the patient who has low back pain includes a search for any of the red flags that would prompt consideration of additional diagnostic testing for serious underlying disease. The common patterns of back pain would be explored in an effort to categorize the patient's symptoms and to b...
journal_title:Neurologic clinics
pub_type: 杂志文章,评审
doi:10.1016/s0733-8619(05)70113-4
更新日期:1999-02-01 00:00:00
abstract::Many substances, organic and manufactured, may induce peripheral nerve damage when exposed to them. The expected clinical phenotype is of a distal, sensory or sensorimotor polyneuropathy, often painful, with axonal characteristics on electrodiagnostic and histopathologic analysis. Treatment is limited; often, the only...
journal_title:Neurologic clinics
pub_type: 杂志文章,评审
doi:10.1016/j.ncl.2004.12.003
更新日期:2005-05-01 00:00:00
abstract::Channelopathies, neuromuscular junction disorders, and myopathies represent multiple mechanisms by which toxins can affect the peripheral nervous system. These toxins include ciguatoxin, tetrodotoxin, botulinum toxin, metabolic poisons, venomous snake bites, and several medications. These toxins are important to be aw...
journal_title:Neurologic clinics
pub_type: 杂志文章,评审
doi:10.1016/j.ncl.2020.07.001
更新日期:2020-11-01 00:00:00
abstract::Oxidative phosphorylation (OXPHOS) accounts for approximately 95% of the adenosine triphosphate (ATP) produced by the cell. The central nervous system, peripheral nervous system, cardiac muscle, skeletal muscle, and smooth muscle are highly susceptible to dysfunction of this complex enzyme system. Although most OXPHOS...
journal_title:Neurologic clinics
pub_type: 杂志文章,评审
doi:10.1016/s0733-8619(05)70180-8
更新日期:2000-02-01 00:00:00
abstract::Rapidly progressive dementias (RPDs) are neurologic conditions that develop subacutely over weeks to months or, rarely, acutely over days. In contrast to most dementing conditions that take years to progress to death, RPD quickly can be fatal. It is critical to evaluate patients who have RPD without delay, usually in ...
journal_title:Neurologic clinics
pub_type: 杂志文章,评审
doi:10.1016/j.ncl.2007.04.001
更新日期:2007-08-01 00:00:00
abstract::The author defines lacunes, classifies types of lacunes and their causes, discusses the correlation between lacunes and specific syndromes, and suggests appropriate therapy. ...
journal_title:Neurologic clinics
pub_type: 杂志文章
doi:
更新日期:1983-02-01 00:00:00
abstract::Motor and phonic tics represent the clinic hallmark of Tourette syndrome. Since there is no diagnostic test for tics, the clinical recognition of phenomenology is essential for proper diagnosis. Some, and possibly most, motor tics are preceded by a premonitory urge or sensation that is relieved by the execution of the...
journal_title:Neurologic clinics
pub_type: 杂志文章,评审
doi:10.1016/s0733-8619(05)70311-x
更新日期:1997-05-01 00:00:00