Abstract:
:We measured neurotransmitter markers in autopsied brain of infants with glycine encephalopathy (GE). Because patients with GE develop intractable seizures, special attention was devoted to those neurotransmitter systems implicated in human epilepsy. Mean levels of glycine in the frontal cortex of GE patients were three times higher than control values. No abnormalities were observed for concentrations of gamma-aminobutyric acid (and related receptors), other major neurotransmitter amino compounds, or activities of cholineacetyltransferase and aspartate aminotransferase. Mean acetylcholinesterase activity was significantly elevated by 46%. As experimental data suggest, glycine markedly potentiates the action of the excitatory neurotransmitter glutamic acid. To the extent that the brain seizures in patients with GE can be explained by this mechanism, pharmacotherapy with excitatory amino acid antagonists may represent a new approach to the treatment of GE.
journal_name
Ann Neuroljournal_title
Annals of neurologyauthors
Kish SJ,Dixon LM,Burnham WM,Perry TL,Becker L,Cheng J,Chang LJ,Rebbetoy Mdoi
10.1002/ana.410240319subject
Has Abstractpub_date
1988-09-01 00:00:00pages
458-61issue
3eissn
0364-5134issn
1531-8249journal_volume
24pub_type
杂志文章abstract:OBJECTIVE:To explore the prognostic implications of epilepsy duration and age at surgery for seizure outcomes after frontal lobe epilepsy (FLE) surgery. METHODS:We reviewed 158 patients who underwent FLE surgery from 1995 to 2010. The primary outcome was seizure freedom at last follow-up (Engel class IA). Analyses emp...
journal_title:Annals of neurology
pub_type: 杂志文章
doi:10.1002/ana.23862
更新日期:2013-05-01 00:00:00
abstract::Calmodulin is a major Ca2+ -binding protein that may mediate many Ca2+ -regulated processes in neuronal function. Calmodulin is present in the presynaptic nerve terminal in association with synaptic vesicles and in postsynaptic density fractions. Several calmodulin-regulated synaptic biochemical processes have been id...
journal_title:Annals of neurology
pub_type: 杂志文章
doi:10.1002/ana.410160716
更新日期:1984-01-01 00:00:00
abstract::The pontine tegmentum contains the neurons responsible for generation of saccadic eye movements and certain phases of sleep. We studied two genetically unrelated patients with spinocerebellar degeneration and slow saccadic eye movements. Multiple all-night sleep studies in both patients disclosed absence of REM and st...
journal_title:Annals of neurology
pub_type: 杂志文章
doi:10.1002/ana.410070312
更新日期:1980-03-01 00:00:00
abstract::Multiple sclerosis (MS) has been associated with HLA-DR2 for more than 20 years, and a large number of studies have addressed the relation between MS and the HLA class II genes, which are our major immune-response genes. This has produced a complex and confusing picture that is difficult to interpret. With the advent ...
journal_title:Annals of neurology
pub_type: 杂志文章,评审
doi:10.1002/ana.410360706
更新日期:1994-01-01 00:00:00
abstract::The monoclonal antibodies anti-Leu-19 and anti-NKH-1 recognize the CD56 differentiation antigen expressed on natural killer (NK) cells and on a T-cell subset. Because CD56 is an isoform of neural cell adhesion molecule (N-CAM), we examined its expression on human muscle using antibodies to Leu-19, NKH-1, and purified ...
journal_title:Annals of neurology
pub_type: 杂志文章
doi:10.1002/ana.410310109
更新日期:1992-01-01 00:00:00
abstract::To elucidate the role of D-serine in human central nervous system, we analyzed D-serine, L-serine, and glycine concentrations in cerebrospinal fluid of healthy children and children with a defective L-serine biosynthesis (3-phosphoglycerate dehydrogenase deficiency). Healthy children showed high D-serine concentration...
journal_title:Annals of neurology
pub_type: 杂志文章
doi:10.1002/ana.20977
更新日期:2006-10-01 00:00:00
abstract::Mutations in DJ-1 (PARK7) have been reported in two consanguineous families with young-onset Parkinson's disease (YOPD). This study aims to confirm the presence of pathogenic DJ-1 mutations and determine their contribution in young-onset and more typical later onset Parkinson's disease (PD). The entire open reading fr...
journal_title:Annals of neurology
pub_type: 杂志文章
doi:10.1002/ana.10675
更新日期:2003-09-01 00:00:00
abstract::We report a patient with a meningioma presenting with Cushing's syndrome, an unprecedented paraneoplastic presentation. Molecular studies, bioassay, and high-performance liquid chromatography of tumor specimens demonstrated the synthesis and secretion of bioactive corticotropin-releasing hormone. To our knowledge, thi...
journal_title:Annals of neurology
pub_type: 杂志文章
doi:10.1002/ana.10454
更新日期:2003-01-01 00:00:00
abstract::Acute Epstein-Barr virus (EBV) infection of the central nervous system (CNS) is associated with meningoencephalitis and other neurological syndromes and with CNS lymphomas (CNSLs). Diagnosis is based on serological studies and more recently on detection of EBV DNA in cerebrospinal fluid (CSF) by polymerase chain react...
journal_title:Annals of neurology
pub_type: 杂志文章
doi:10.1002/ana.10321
更新日期:2002-11-01 00:00:00
abstract::A patient with longstanding Mollaret's meningitis had an increased number of circulating natural killer cells during an acute attack, as evidenced by 73% large granular lymphocytes and 80% Leu-11a-positive peripheral mononuclear cells. Numbers of large granular lymphocytes and Leu-11a-positive cells returned to normal...
journal_title:Annals of neurology
pub_type: 杂志文章
doi:10.1002/ana.410200315
更新日期:1986-09-01 00:00:00
abstract::The hypothalamus was systematically examined in 30 patients with pathologically documented idiopathic parkinsonism. Using Lewy body formation as a marker for nerve cell degeneration, we observed abnormalities in every hypothalamus examined. Of the thirteen hypothalamic nuclei that could be individually identified, non...
journal_title:Annals of neurology
pub_type: 杂志文章
doi:10.1002/ana.410030207
更新日期:1978-02-01 00:00:00
abstract::The published information on glutamate levels in cerebrospinal fluid (CSF) and modifications in neurological disorders is controversial. In the present study, we demonstrated a metabolic instability of glutamate in untreated CSF and a spurious elevation of its levels by the current methods of CSF acidification. These ...
journal_title:Annals of neurology
pub_type: 杂志文章
doi:10.1002/ana.410330316
更新日期:1993-03-01 00:00:00
abstract::Intellectual disability is common and is associated with significant morbidity. Until the latter half of the 20th century, there were no efficacious treatments. Following initial breakthroughs associated with newborn screening and metabolic corrections, little progress was made until recently. With improved understand...
journal_title:Annals of neurology
pub_type: 杂志文章,评审
doi:10.1002/ana.24002
更新日期:2013-09-01 00:00:00
abstract::To evaluate the proportion of cases of myoglobinuria that can be ascribed to specific metabolic defects, we have studied eight enzymes--phosphorylase, phosphorylase kinase, phosphofructokinase (PFK), phosphoglycerate kinase (PGK), phosphoglycerate mutase (PGAM), lactate dehydrogenase (LDH), carnitine palmitoyltransfer...
journal_title:Annals of neurology
pub_type: 杂志文章
doi:10.1002/ana.410270214
更新日期:1990-02-01 00:00:00
abstract::Although the carbonic anhydrase inhibitors have been used in the treatment of the primary periodic paralyses (PPs), their efficacy has not been demonstrated in double-blind, placebo-controlled trials. Therefore, we tested the efficacy of dichlorphenamide (DCP; Daranide), a potent carbonic anhydrase inhibitor, in the t...
journal_title:Annals of neurology
pub_type: 临床试验,杂志文章,多中心研究,随机对照试验
doi:
更新日期:2000-01-01 00:00:00
abstract::To examine the antiparkinsonian effects of blocking glycineB receptors, we designed a pilot study testing the potent and selective antagonist, PAMQX, in 1-methyl-4-phenyl-1,2,3,6-tetrahydropyridine-treated primates. PAMQX had no intrinsic effects but markedly potentiated the antiparkinsonian action of levodopa. In a d...
journal_title:Annals of neurology
pub_type: 杂志文章
doi:10.1002/ana.20279
更新日期:2004-11-01 00:00:00
abstract:OBJECTIVE:Predicting hemorrhagic transformation (HT) is critical in the setting of recanalization therapy for acute stroke. Dedicated magnetic resonance imaging (MRI) sequences for detection of increased blood-brain barrier (BBB) permeability recently have been developed. We evaluated the ability of a novel MRI permeab...
journal_title:Annals of neurology
pub_type: 杂志文章
doi:10.1002/ana.21174
更新日期:2007-08-01 00:00:00
abstract:OBJECTIVE:Seizure at onset (SaO) has been considered a relative contraindication for intravenous thrombolysis (IVT) in patients with acute ischemic stroke, although this appraisal is not evidence based. Here, we investigated the prognostic significance of SaO in patients treated with IVT for suspected ischemic stroke. ...
journal_title:Annals of neurology
pub_type: 杂志文章,多中心研究
doi:10.1002/ana.25582
更新日期:2019-11-01 00:00:00
abstract:OBJECTIVE:To evaluate the outcomes 1 year and longer following stereotactic laser amygdalohippocampotomy for mesial temporal lobe epilepsy in a large series of patients treated over a 5-year period since introduction of this novel technique. METHODS:Surgical outcomes of a consecutive series of 58 patients with mesial ...
journal_title:Annals of neurology
pub_type: 杂志文章
doi:10.1002/ana.25180
更新日期:2018-03-01 00:00:00
abstract::We investigated whether the integrity of the corticospinal tract classified by diffusion tensor tractography (DTT) can predict the motor outcome in 25 patients with pontine infarct. DTTs were obtained in the early stage of stroke (5-30 days) and were classified into two groups (type A: the integrity of corticospinal t...
journal_title:Annals of neurology
pub_type: 杂志文章
doi:10.1002/ana.21444
更新日期:2008-10-01 00:00:00
abstract::B cells have long played an enigmatic role in the scenario of multiple sclerosis pathogenesis. This review summarizes recent progress in our understanding of B-cell trafficking, survival, and differentiation in the central nervous system (CNS). We propose four possible routes of intrathecal immunoglobulin-producing ce...
journal_title:Annals of neurology
pub_type: 杂志文章,评审
doi:10.1002/ana.20890
更新日期:2006-06-01 00:00:00
abstract::Biochemical examinations of brain tissue samples obtained from patients with Alzheimer's disease have revealed a decreased quantity of the neurotransmitter acetylcholine and reduced activity of choline acetyltransferase (ChAT), the enzyme responsible for acetylcholine formation. It has been suggested that the choline ...
journal_title:Annals of neurology
pub_type: 杂志文章
doi:10.1002/ana.410200214
更新日期:1986-08-01 00:00:00
abstract::Neural tube defects (NTDs) are among the most common birth defects in humans and yet their molecular etiology remains poorly understood. NTDs are believed to result from the complex interaction of environmental factors with a multitude of genetic risk factors in a classical multifactorial disease model. Mendelian form...
journal_title:Annals of neurology
pub_type: 杂志文章
doi:10.1002/ana.25152
更新日期:2018-02-01 00:00:00
abstract::Positron emission tomography was used to study the effect of supratentorial infarction on cerebellar metabolic rate for oxygen and cerebellar blood flow. In a control group of patients, the mean cerebellar metabolic rate for oxygen was 2.97 +/- 0.11 (standard error of the mean [SEM] ) ml-1 . min-1 . hg-1 and mean cere...
journal_title:Annals of neurology
pub_type: 杂志文章
doi:10.1002/ana.410140203
更新日期:1983-08-01 00:00:00
abstract::In view of the favorable claims of Cook and others, an open trial of chronic dorsal column stimulation was undertaken in 9 patients who had moderately advanced multiple sclerosis (MS) but were still ambulatory. No objective improvement was noted by either author during the postoperative observation period of 6 to 37 m...
journal_title:Annals of neurology
pub_type: 杂志文章
doi:10.1002/ana.410060115
更新日期:1979-07-01 00:00:00
abstract:OBJECTIVE:Determine the probability of attaining complete remission in children with nonsyndromic epilepsy (NSE) over the course of ≥10 years from initial diagnosis; identify early predictors of complete remission; and assess the risk of relapse after achieving complete remission. METHODS:In a prospective community-ba...
journal_title:Annals of neurology
pub_type: 杂志文章
doi:10.1002/ana.22461
更新日期:2011-10-01 00:00:00
abstract::We report FK506-induced neurotoxicity in 14 of 44 consecutive patients following orthoptic liver transplantation. In 10 of these 14 patients, postural hand tremors were found in the first weeks following surgery, transient apraxia of speech in 3, and generalized tonic-clonic seizures were noted in 2 patients. Other ma...
journal_title:Annals of neurology
pub_type: 杂志文章
doi:10.1002/ana.410350422
更新日期:1994-04-01 00:00:00
abstract:OBJECTIVE:To assess the ability for visual search and recognition of roadside targets and safety errors during a landmark and traffic sign identification task in drivers with Parkinson's disease (PD). METHODS:Seventy-nine drivers with PD and 151 neurologically normal older adults underwent a battery of visual, cogniti...
journal_title:Annals of neurology
pub_type: 杂志文章
doi:10.1002/ana.20958
更新日期:2006-10-01 00:00:00
abstract::The etiology of neurodegenerative diseases remains enigmatic; however, evidence for defects in energy metabolism, excitotoxicity, and for oxidative damage is increasingly compelling. It is likely that there is a complex interplay between these mechanisms. A defect in energy metabolism may lead to neuronal depolarizati...
journal_title:Annals of neurology
pub_type: 杂志文章,评审
doi:10.1002/ana.410380304
更新日期:1995-09-01 00:00:00
abstract::Actin filaments in skin fibroblasts from patients with Huntington's disease (HD) were examined using immunofluorescent methods. Actin filaments were seen along the axis of cell elongation (stress or sheath filaments) as well as in areas of membrane ruffling (lattice filaments). In some cases, filaments appeared to rad...
journal_title:Annals of neurology
pub_type: 杂志文章
doi:10.1002/ana.410040614
更新日期:1978-12-01 00:00:00