Presynaptic failure of neuromuscular transmission and synaptic remodeling in EA2.

abstract：:We describe a familial disorder consisting of sleep apnea, anosmia, colorblindness, partial complex seizures, and cognitive dysfunction. The phenotypic expression of the syndrome suggests an autosomal dominant inheritance with incomplete penetrance. ...

journal_title：Neurology

authors： Manon-Espaillat R,Gothe B,Adams N,Newman C,Ruff R

更新日期：1988-02-01 00:00:00

abstract：BACKGROUND:Biomarker levels in blood after traumatic brain injury (TBI) may offer diagnostic and prognostic tools in addition to clinical indices. This study aims to validate glial fibrillary acidic protein (GFAP) and S100B concentrations in blood as outcome predictors of TBI using cutoff levels of 1.5 μg/L for GFAP an...

journal_title：Neurology

authors： Vos PE,Jacobs B,Andriessen TM,Lamers KJ,Borm GF,Beems T,Edwards M,Rosmalen CF,Vissers JL

更新日期：2010-11-16 00:00:00

abstract：OBJECTIVE:Coccidioides species are the most common etiologic agents of chronic meningitis in regions endemic for coccidioidomycosis. Occasionally, even short-term travel to endemic regions results in the acquisition of meningeal disease, so awareness of this complication of coccidioidomycosis is important even in nonen...

journal_title：Neurology

authors： Drake KW,Adam RD

更新日期：2009-11-24 00:00:00

abstract：:A 15-year-old girl with a 3-year history of Rasmussen syndrome (RS) underwent left functional hemispherectomy by central disconnection. Clinical seizures then ceased. Five months postoperatively, ictal EEG discharges were associated with focal hyperperfusion on SPECT within the disconnected hypoperfused left hemispher...

journal_title：Neurology

authors： Thomas P,Zifkin B,Ghetâu G,Delalande O

更新日期：2003-01-14 00:00:00

abstract：OBJECTIVE:To investigate botulinum toxin (BTX) effects on central and peripheral motor excitability in writer's cramp. METHODS:Using transcranial magnetic stimulation over the motor cortex and brainstem and peripheral electrical stimulation, the authors investigated measures of motor cortical and peripheral motor exci...

journal_title：Neurology

authors： Boroojerdi B,Cohen LG,Hallett M

更新日期：2003-12-09 00:00:00

abstract：BACKGROUND AND OBJECTIVE:Human herpesvirus 8 (HHV-8) has been found in association with Kaposi's sarcomas in human immunodeficiency virus (HIV)-positive and -negative patients, primary effusion lymphomas (PELs), multicentric Castleman's disease, and multiple myeloma. The PELs share several features with acquired immuno...

journal_title：Neurology

authors： Corboy JR,Garl PJ,Kleinschmidt-DeMasters BK

更新日期：1998-02-01 00:00:00

abstract：:The authors correlated neurologic features of rostral lateral pontine infarct (rLPI) with lesion location on MRI. rLPI is a motor-sensory stroke presenting as crural monoparesis or crural dominant hemiparesis and segmental superficial or deep sensory disturbances. The dorsolateral pontine base causes crural paresis wi...

journal_title：Neurology

authors： Kataoka S,Miaki M,Saiki M,Saiki S,Yamaya Y,Hori A,Hirose G

更新日期：2003-07-08 00:00:00

abstract：OBJECTIVE:To describe the clinical features, MRI findings, and pathogenesis of strokes producing internuclear ophthalmoplegia (INO) as an isolated or predominant clinical manifestation. METHODS:Thirty patients presenting with INO without (n = 12) or with (n = 18) minimal other neurologic signs were studied. MRI and an...

journal_title：Neurology

authors： Kim JS

更新日期：2004-05-11 00:00:00

abstract：:We studied 30 necropsy cases of vascular dementia with a lacunar state. Manifestations included dementia, lack of volition, emotional lability, small-stepped gait, dysarthria, urinary incontinence, grasp reflex, pyramidal signs, paraplegia in flexion, and akinetic mutism. Pathologically, there was diffuse incomplete s...

journal_title：Neurology

authors： Ishii N,Nishihara Y,Imamura T

更新日期：1986-03-01 00:00:00

abstract：:Using a crossed-response task, monkeys with neglect induced by frontal lesions appear to have motor rather than sensory neglect. However, the crossed-response task may not reveal sensory neglect (inattention) if no perceptual discrimination is required. We therefore trained two monkeys in a perceptually complex crosse...

journal_title：Neurology

authors： Heilman KM,Valenstein E,Day A,Watson R

更新日期：1995-06-01 00:00:00

abstract：OBJECTIVE:We sought to examine brain white matter abnormalities based on MRI in adults with Lesch-Nyhan disease (LND) or an attenuated variant (LNV) of this rare, X-linked neurodevelopmental disorder of purine metabolism. METHODS:In this observational study, we compared 21 adults with LND, 17 with LNV, and 33 age-, se...

journal_title：Neurology

authors： Schretlen DJ,Varvaris M,Vannorsdall TD,Gordon B,Harris JC,Jinnah HA

更新日期：2015-01-13 00:00:00

abstract：OBJECTIVE:To analyze differences in functional brain images collected in patients with type 2 and type 1 narcolepsy compared to normal controls and the relationship among brain images, objective neuropsychologic tests, and sleep findings. METHODS:Data collection included comprehensive clinical investigation, study of ...

journal_title：Neurology

authors： Huang YS,Hsiao IT,Liu FY,Hwang FM,Lin KL,Huang WC,Guilleminault C

更新日期：2018-04-24 00:00:00

abstract：:Seizures in a transplant candidate or recipient raise complicated management issues, but there are no results from controlled drug trials to guide their pharmacologic treatment. Most seizures in the transplant population are isolated events that do not require long-term antiseizure therapy. Short-term therapy, however...

journal_title：Neurology

authors： Chabolla DR,Wszolek ZK

更新日期：2006-12-26 00:00:00

abstract：OBJECTIVE:To determine the stage of training at which neurology residents should achieve individual elements of the Accreditation Council for Graduate Medical Education neurology Milestones and to examine the relationship between perceived importance of Milestones and the stage by which they should be achieved. METHOD...

journal_title：Neurology

authors： Jones LK Jr,Eggers SDZ,Capobianco DJ,Boes CJ

更新日期：2018-10-16 00:00:00

abstract：:Restless legs syndrome (RLS) is a common neurologic disorder whose prevalence has been estimated at 4 to 10% of the general population. Although its pathophysiology remains unknown, dopaminergic mechanisms are believed to play a central role. Furthermore, dopaminergic drugs have shown therapeutic efficacy in various l...

journal_title：Neurology

authors： Garcia-Borreguero D,Odin P,Serrano C

更新日期：2003-09-23 00:00:00

abstract：BACKGROUND:Affective-motivational and sensory-discriminative aspects of pain were investigated in patients with mild to moderate Alzheimer disease (AD) and healthy elderly controls using the cold pressor test tolerance and repetitive stimuli of warmth and heat stimuli, evaluating the stimulus-response function. METHOD...

journal_title：Neurology

authors： Jensen-Dahm C,Werner MU,Jensen TS,Ballegaard M,Andersen BB,Høgh P,Waldemar G

更新日期：2015-04-14 00:00:00

abstract：:We reviewed 44 cases of ischemia and infarction of the spinal cord at two university hospitals. Three patients experienced transient ischemic attacks. Etiologies of completed strokes were diverse and included rupture and surgical repair of aortic aneurysms, aortic dissection, aortic rupture and thrombosis, global isch...

journal_title：Neurology

authors： Cheshire WP,Santos CC,Massey EW,Howard JF Jr

更新日期：1996-08-01 00:00:00

abstract：:Several drugs that inhibit the effects of serotonin may reduce or prevent experimental CNS ischemic damage, but these drugs are not approved for human use in the United States. Administration of cyproheptadine (which is available for clinical use) 15 minutes before or 5 minutes after the onset increased the duration o...

journal_title：Neurology

authors： Zivin JA

更新日期：1985-04-01 00:00:00

abstract：OBJECTIVE:To assess the evidence demonstrating efficacy, tolerability, and safety of seven new antiepileptic drugs (AEDs) (gabapentin, lamotrigine, topiramate, tiagabine, oxcarbazepine, levetiracetam, and zonisamide) in the treatment of children and adults with refractory partial and generalized epilepsies. METHODS:A ...

journal_title：Neurology

authors： French JA,Kanner AM,Bautista J,Abou-Khalil B,Browne T,Harden CL,Theodore WH,Bazil C,Stern J,Schachter SC,Bergen D,Hirtz D,Montouris GD,Nespeca M,Gidal B,Marks WJ Jr,Turk WR,Fischer JH,Bourgeois B,Wilner A,Faught R

更新日期：2004-04-27 00:00:00

abstract：OBJECTIVE:To examine the association between cognitive function and dementia with vitamin D concentration in adults. METHODS:Five databases were searched for English-language studies up to August 2010, and included all study designs with a comparative group. Cognitive function or impairment was defined by tests of glo...

journal_title：Neurology

authors： Balion C,Griffith LE,Strifler L,Henderson M,Patterson C,Heckman G,Llewellyn DJ,Raina P

更新日期：2012-09-25 00:00:00

abstract：:The authors describe an infant with vanishing white matter disease with demyelinating peripheral neuropathy. Sequence analysis of EIF2B5 gene showed that the patient was a double heterozygote, with novel missense mutation CGA-->CAA in codon 269 of exon 6, resulting in the replacement of an arginine residue with glutam...

journal_title：Neurology

authors： Federico A,Scali O,Stromillo ML,Di Perri C,Bianchi S,Sicurelli F,De Stefano N,Malandrini A,Dotti MT

更新日期：2006-07-25 00:00:00

abstract：OBJECTIVE:To investigate the genotype-phenotype correlation between neurofibromatosis 1 (NF1) germline mutations and imaging features of neurofibromas on whole-body MRI (WBMRI) by using radiomics image analysis techniques. MATERIALS AND METHODS:Twenty-nine patients with NF1 who had known germline mutations determined ...

journal_title：Neurology

authors： Liu Y,Jordan JT,Bredella MA,Erdin S,Walker JA,Vangel M,Harris GJ,Plotkin SR,Cai W

更新日期：2020-06-16 00:00:00

abstract：:Current concepts suggest that avoidance of pulsatile stimulation of dopamine receptors in Parkinson's disease (PD) can prevent the onset of dyskinesia. In MPTP-treated primates, repeated administration of levodopa or other short-acting dopamine agonist drugs leads to the onset of marked involuntary movements. In contr...

journal_title：Neurology

authors： Jenner P

更新日期：2004-01-13 00:00:00

abstract：:To gain insight into the historical features relevant to the diagnosis of cardiac embolic strokes, we studied the 1,290 patients with cerebral infarcts in the NINCDS Stroke Data Bank. Based solely on the presence of cardiac sources of embolism, we divided the patients into groups of high (n = 250), medium (n = 166), a...

journal_title：Neurology

authors： Kittner SJ,Sharkness CM,Price TR,Plotnick GD,Dambrosia JM,Wolf PA,Mohr JP,Hier DB,Kase CS,Tuhrim S

更新日期：1990-02-01 00:00:00

abstract：:We measured the cerebral metabolic rate for glucose (CMRglc) with positron emission tomography and [18F]2-fluoro-2-deoxy-D-glucose in a 47-year-old man with trisomy 21 Down's syndrome (DS) and autopsy-confirmed Alzheimer's disease. Dementia was evident from a confirmed history of cognitive decline, memory loss, and pe...

journal_title：Neurology

authors： Schapiro MB,Ball MJ,Grady CL,Haxby JV,Kaye JA,Rapoport SI

更新日期：1988-06-01 00:00:00

abstract：:We report a 74-year-old woman with opsoclonus, myoclonus, ataxia, and encephalopathy who had small-cell lung cancer and high titers of anti-Hu antibody in her serum. At autopsy, there were perivascular inflammatory infiltrates in the brainstem, putamen, and meninges overlying the orbital frontal cortex. Immunohistoche...

journal_title：Neurology

authors： Hersh B,Dalmau J,Dangond F,Gultekin S,Geller E,Wen PY

更新日期：1994-09-01 00:00:00

abstract：BACKGROUND AND PURPOSE:Resistance to insulin-mediated glucose uptake by peripheral tissues is a cardinal defect in type 2 diabetes mellitus. Insulin resistance is also common among nondiabetic individuals, and may be an important risk factor for stroke in both populations. The authors review the definition, epidemiolog...

journal_title：Neurology

authors： Kernan WN,Inzucchi SE,Viscoli CM,Brass LM,Bravata DM,Horwitz RI

更新日期：2002-09-24 00:00:00

abstract：OBJECTIVE:To report the assessment of a patient exhibiting gustatory agnosia. METHODS:Preoperative and postoperative neuropsychological, neuroimaging, and chemosensory evaluations were performed in a 39-year-old woman undergoing surgical treatment for intractable epilepsy. RESULTS:Preoperative MRIs showed bilateral (...

journal_title：Neurology

authors： Small DM,Bernasconi N,Bernasconi A,Sziklas V,Jones-Gotman M

更新日期：2005-01-25 00:00:00

abstract：BACKGROUND:Congenital muscular dystrophies (CMD) with reduced glycosylation of alpha-dystroglycan (alpha-DG) are a heterogeneous group of conditions associated with mutations in six genes encoding proven or putative glycosyltransferases. OBJECTIVES:The aim of the study was to establish the prevalence of mutations in t...

journal_title：Neurology

authors： Mercuri E,Messina S,Bruno C,Mora M,Pegoraro E,Comi GP,D'Amico A,Aiello C,Biancheri R,Berardinelli A,Boffi P,Cassandrini D,Laverda A,Moggio M,Morandi L,Moroni I,Pane M,Pezzani R,Pichiecchio A,Pini A,Minetti C,Mon

更新日期：2009-05-26 00:00:00

abstract：:Cabergoline, a new ergoline derivative, is a D2-specific dopaminergic agonist that is more potent and longer-acting than other agonist agents. We conducted a randomized, double-blind study of increasing doses of cabergoline taken once a day. Twenty-five patients with Parkinson's disease taking stable doses of levodopa...

journal_title：Neurology

authors： Hutton JT,Morris JL,Brewer MA

更新日期：1993-03-01 00:00:00