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 quality of life. The wealth of recent information regarding genotype-phenotype correlations, recognition of disease heterogeneity, and newly characterized animal models provide exciting insights into the molecular disease-related pathogenetic and pathophysiologic mechanisms. These advances at the same time also represent a challenge for the diagnosis and management of these patients, with no presently available specific curative or disease modifying treatments. A better understanding of the pathogenesis of peripheral neuropathies is an invaluable tool in developing future supportive and curative therapies for patients with CMT disease that will improve their quality of life. In this review, we provide practical insights on current diagnostic and therapeutic modalities and suggest future diagnostic and therapeutic directions.
journal_name
Semin Neuroljournal_title
Seminars in neurologyauthors
Jani-Acsadi A,Krajewski K,Shy MEdoi
10.1055/s-2008-1062264subject
Has Abstractpub_date
2008-04-01 00:00:00pages
185-94issue
2eissn
0271-8235issn
1098-9021journal_volume
28pub_type
杂志文章,评审abstract::The vast majority of people living with human immunodeficiency virus (HIV) infection reside in resource-limited settings. As compared with resource-rich settings, there are important differences in the epidemiology and outcomes of HIV infection in resource-limited settings. Nonetheless, little HIV neurology research o...
journal_title:Seminars in neurology
pub_type: 杂志文章,评审
doi:10.1055/s-0034-1372344
更新日期:2014-02-01 00:00:00
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::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::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::With the increasing acceptance of the right of patients to refuse life-sustaining treatment, some have argued that terminally ill patients have a corollary right to physician-assisted suicide (PAS) on request. However, there are important moral and legal distinctions between patients' refusals of therapy and requests ...
journal_title:Seminars in neurology
pub_type: 杂志文章,评审
doi:10.1055/s-2008-1040939
更新日期:1997-01-01 00:00:00
abstract::Neurotoxic venoms are common among tropical marine creatures, which have specialized apparatuses for delivery of the venoms. These include jellyfish and anemones, venomous cone snails, venomous fish, stingrays, sea snakes, and venomous octopuses. Numerous toxic neuropeptides are found within these venoms, and some can...
journal_title:Seminars in neurology
pub_type: 杂志文章,评审
doi:10.1055/s-2005-917664
更新日期:2005-09-01 00:00:00
abstract::Metastatic plexopathy is often a disabling accompaniment of advanced systemic cancer and may involve any of the peripheral nerve plexuses. Brachial plexopathy most commonly occurs in carcinoma of the breast and lung; lumbosacral plexopathy is most common with colorectal and gynecologic tumors, sarcomas, and lymphomas....
journal_title:Seminars in neurology
pub_type: 杂志文章,评审
doi:10.1055/s-2004-861533
更新日期:2004-12-01 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::Dizziness is a common chief complaint with an extensive differential diagnosis that includes both benign and serious conditions. Physicians must distinguish the majority of patients who suffer from self-limiting conditions from those with serious illnesses that require acute treatment. The preferred approach to the di...
journal_title:Seminars in neurology
pub_type: 杂志文章,评审
doi:10.1055/s-0038-1676857
更新日期:2019-02-01 00:00:00
abstract::The combination of neurologic disease and ichthyosis defines a heterogeneous group of rare inherited disorders that present in infancy through early adulthood. Although affected patients share the cutaneous feature of ichthyosis, there is variability in the nature and severity of neurologic disease. Impaired cognition...
journal_title:Seminars in neurology
pub_type: 杂志文章,评审
doi:10.1055/s-0032-1306390
更新日期:2012-02-01 00:00:00
abstract::Rapidly progressive dementia (RPD) or cognitive decline is a common presenting complaint in neurology. While primary dementia is often a concern, other forms of reversible dementia must be thoroughly considered. This article focuses on the growing field of autoimmune encephalitis (AE) as it pertains to the differentia...
journal_title:Seminars in neurology
pub_type: 杂志文章,评审
doi:10.1055/s-0039-1678583
更新日期:2019-04-01 00:00:00
abstract::Psychoanalysis emerged out of Freud's neuropsychologic studies of consciousness and cognition. This article describes the historical development of neuropsychodynamic theories of consciousness and personality, and traces their application to several neuropsychiatric syndromes of intense contemporary clinical interest....
journal_title:Seminars in neurology
pub_type: 传,历史文章,杂志文章
doi:10.1055/s-2008-1040927
更新日期:1997-06-01 00:00:00
abstract::The PPS is now a well-recognized entity encompassing the late manifestations that occur because of previous poliomyelitis. Common signs and symptoms include fatigue, cold intolerance, joint deteriorations with pain, and prominent neurologic problems that include new weakness, muscle pain, atrophy, respiratory insuffic...
journal_title:Seminars in neurology
pub_type: 杂志文章,评审
doi:10.1055/s-2008-1041136
更新日期:1993-09-01 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
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::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::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::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
更新日期:2017-12-01 00:00:00
abstract::The growth of bioethics as a practical, meaningful player in the arena of health care has paralleled that of clinical neurology not only in time but also in interaction between the two disciplines. Almost every advance in neurology has spawned an ethical dilemma, the unraveling of which has brought new insights to bot...
journal_title:Seminars in neurology
pub_type: 杂志文章,评审
doi:10.1055/s-2001-19406
更新日期:2001-12-01 00:00:00
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
更新日期:2013-07-01 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
abstract::Carotid endarterectomy is an established surgical procedure to prevent stroke. The indications, preoperative evaluation, surgical timing, technical details, complications, and special circumstances for the use of this operation are reviewed. Future developments in the surgical reconstruction of the extracranial caroti...
journal_title:Seminars in neurology
pub_type: 杂志文章,评审
doi:10.1055/s-2008-1040902
更新日期:1998-01-01 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::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::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::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
更新日期:2008-09-01 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::Primary brain tumors are common causes of focal epilepsy, accounting for 5% of new-onset seizures in adults and over 10% of lesional focal epilepsies. These epilepsies are often refractory to medical treatment, and high rates of seizure freedom can be achieved with gross total resections. However, the management strat...
journal_title:Seminars in neurology
pub_type: 杂志文章,评审
doi:10.1055/s-0035-1552628
更新日期:2015-06-01 00:00:00
abstract::Cancer therapy can cause several neurotoxic syndromes that are associated with distinct findings on cranial imaging. With the use of more aggressive and combined treatment modalities in oncology and prolonged overall patient survival, neurotoxicity has been reported with increasing frequency in patients with brain can...
journal_title:Seminars in neurology
pub_type: 杂志文章,评审
doi:10.1055/s-0032-1331817
更新日期:2012-09-01 00:00:00
abstract::Calcineurin inhibitor encephalopathy (CIE) is a rare condition occurring in patients who are undergoing treatment with drugs from the calcineurin inhibitor (CI) family of immunosuppressants, either cyclosporine (CsA) or tacrolimus (TAC, FK506). Generally acute in onset, the symptoms are commonly reversible if properly...
journal_title:Seminars in neurology
pub_type: 杂志文章,评审
doi:10.1055/s-0033-1334471
更新日期:2012-11-01 00:00:00