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 genetics research in Alzheimer's disease, Parkinson's disease, frontotemporal dementia, and amyotrophic lateral sclerosis. Across these four disorders alone, nearly 60 different loci can now be considered as established to be involved in pathogenesis for both Mendelian and non-Mendelian disease forms. In addition to reviewing the most compelling of these loci based on current data from genome-wide association studies and next-generation sequencing projects, genes that have been linked to more than one disease entity are emphasized. Such overlapping findings could point to one or several common genetic and mechanistic denominators for neuronal death in neurodegeneration. Unveiling the identity of these and other genetic factors will not only improve our understanding of the underlying pathophysiology, but may also lead to new avenues for preventing and treating these devastating diseases.
journal_name
Semin Neuroljournal_title
Seminars in neurologyauthors
Lill CM,Bertram Ldoi
10.1055/s-0031-1299791subject
Has Abstractpub_date
2011-11-01 00:00:00pages
531-41issue
5eissn
0271-8235issn
1098-9021journal_volume
31pub_type
杂志文章,评审abstract::Neurology has not typically been associated with international relief work; however, with the growth of chronic cardiovascular disease and stroke associated with unhealthy eating and sedentary ways, the appearance of "new" neurologic diseases, such as the Zika and West Nile viruses, and the high numbers of seizure dis...
journal_title:Seminars in neurology
pub_type: 杂志文章,评审
doi:10.1055/s-0038-1647245
更新日期:2018-04-01 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::The clinical evaluation of peripheral neuropathies can be challenging. This article presents an approach based on a structured assessment that asks a series of yes or no questions during the history and examination that leads to localization and characterization of the neuropathy. The final assessment includes further...
journal_title:Seminars in neurology
pub_type: 杂志文章,评审
doi:10.1055/s-2005-871323
更新日期:2005-06-01 00:00:00
abstract::Infective endocarditis (IE) is a systemic disease with many potential neurologic manifestations including ischemic and hemorrhagic strokes, cerebral microbleeding, infectious intracranial aneurysms, meningitis, brain abscesses, and encephalopathy. The majority of left-sided (heart) IE patients have brain lesions that ...
journal_title:Seminars in neurology
pub_type: 杂志文章,评审
doi:10.1055/s-0039-1688826
更新日期:2019-08-01 00:00:00
abstract::Neurothermography is a new, clinically useful method of detecting autonomic sympathetic peripheral nerve dysfunction. Body symmetry of the skin temperature as maintained by symmetrically functional peripheral nerves is the key to detecting a normal state. Persistent 1 degree C temperature asymmetry in the pattern of a...
journal_title:Seminars in neurology
pub_type: 杂志文章,评审
doi:10.1055/s-2008-1041432
更新日期:1987-12-01 00:00:00
abstract::CPP reflects perfusion problems related to increased ICP or inadequate MAP. CPP is a most helpful and practical management tool. The relationship of CBF and CPP depends on cerebral vascular resistance (flow equals pressure divided by resistance). At present, we do not have a practical method to measure vascular resist...
journal_title:Seminars in neurology
pub_type: 杂志文章,评审
doi:10.1055/s-2008-1041328
更新日期:1989-09-01 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::Acute ischemic stroke (AIS) is a time sensitive medical emergency and a leading cause of morbidity and mortality worldwide. Intravenous (IV) recombinant tissue plasminogen activator (IV alteplase) is currently the only proven effective medication for the treatment of AIS with promising adjuvant medications currently u...
journal_title:Seminars in neurology
pub_type: 杂志文章
doi:10.1055/s-0040-1722720
更新日期:2021-01-20 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::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::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::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::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::Myelopathy refers to a spinal cord disorder that presents with motor and/or sensory deficits. Infectious agents that cause myelopathy do so by either direct infection of neural structures (e.g., polio), a parainfectious mechanism (with a presumed autoimmune pathogenesis), or as a result of involvement of structures ad...
journal_title:Seminars in neurology
pub_type: 杂志文章,评审
doi:10.1055/s-0032-1322588
更新日期:2012-04-01 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::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::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::Parkinsonism is a clinical syndrome, which is characterized by bradykinesia, rigidity, rest tremor, and postural instability. Idiopathic Parkinson disease (PD) is the most common cause of this syndrome, though there are several other important etiologies that must be considered. These include the atypical Parkinsonian...
journal_title:Seminars in neurology
pub_type: 杂志文章,评审
doi:10.1055/s-0036-1585097
更新日期:2016-08-01 00:00:00
abstract::Sergei Sergeevich Prokofiev (1891-1953) was one of the great Russian composers. He died, at age 61, of a supposed intracerebral brain hemorrhage. During the 8 years before his death, he suffered from episodic headaches, nausea and dizziness. This article reviews the historical information about Prokofiev's illness lea...
journal_title:Seminars in neurology
pub_type: 传,历史文章,杂志文章
doi:
更新日期:1999-01-01 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::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::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::As the population ages, the prevalence of many neurologic diseases is increasing. At the same time, older patients are undergoing more surgical procedures. This confluence of events puts neurohospitalists in a unique position to provide both pre- and postoperative guidance to minimize complications, improve clinical o...
journal_title:Seminars in neurology
pub_type: 杂志文章,评审
doi:10.1055/s-0035-1564302
更新日期:2015-12-01 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::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 traditional view of neuromyelitis optica (NMO) as a monophasic inflammatory disorder that affects both the optic nerves and the spinal cord is expanding. Over the last decade, a combination of clinical, radiological, pathological, and serological findings have resulted in evolving definitions of NMO and the apprec...
journal_title:Seminars in neurology
pub_type: 杂志文章,评审
doi:10.1055/s-2007-1019131
更新日期:2008-02-01 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::Visual field deficits are common in neurologic disease conditions such as cerebrovascular disease, traumatic brain injury, and brain tumors. Loss of visual fields may lead to impairment of reading skills (hemianopic dyslexia) and limitations of daily activities such as driving, which can have a significant impact on a...
journal_title:Seminars in neurology
pub_type: 杂志文章,评审
doi:10.1055/s-0035-1563573
更新日期:2015-10-01 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::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