Abstract:
:The phenotype of severe congenital hydrocephalus secondary to neural cell adhesion molecule L1 (L1CAM) gene mutations includes the distinct finding of brainstem corticospinal tract hypoplasia. Using diffusion-weighted imaging (DWI), we failed to demonstrate anisotropy in the corticospinal tracts of the basis pontis in 4 affected boys with L1CAM mutations. The DWI findings correlated with the neuropathological findings in a fifth patient. DWI may be a useful technique to screen for boys with L1CAM mutations.
journal_name
Ann Neuroljournal_title
Annals of neurologyauthors
Graf WD,Born DE,Shaw DW,Thomas JR,Holloway LW,Michaelis RCkeywords:
subject
Has Abstractpub_date
2000-01-01 00:00:00pages
113-7issue
1eissn
0364-5134issn
1531-8249journal_volume
47pub_type
杂志文章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::Fresh brain weight, gestational age, body weight, sex, and race were collected from autopsy records of 782 newborns over a 10-year period. The brain weight of the mature newborn does not differ between males and females or between white and black infants. For the premature, however, brain weight is heavier in white ma...
journal_title:Annals of neurology
pub_type: 杂志文章
doi:10.1002/ana.410100308
更新日期:1981-09-01 00:00:00
abstract::Pyruvate dehydrogenase deficiency is a major cause of primary lactic acidosis and neurological dysfunction in infancy and early childhood. Most cases are caused by mutations in the X-linked gene for the E1alpha subunit of the complex. Mutations in DLAT, the gene encoding dihydrolipoamide acetyltransferase, the E2 core...
journal_title:Annals of neurology
pub_type: 杂志文章
doi:10.1002/ana.20550
更新日期:2005-08-01 00:00:00
abstract:OBJECTIVE:Accurate identification of the ischemic penumbra, the therapeutic target in acute clinical stroke, is of critical importance to identify patients who might benefit from reperfusion therapies beyond the established time windows. Therefore, we aimed to validate magnetic resonance imaging (MRI) mismatch-based pe...
journal_title:Annals of neurology
pub_type: 杂志文章
doi:10.1002/ana.25479
更新日期:2019-06-01 00:00:00
abstract:OBJECTIVE:Huntington's disease (HD) is a monogenic, fully penetrant neurodegenerative disorder, providing an ideal model for understanding brain changes occurring in the years prior to disease onset. Diffusion tensor imaging (DTI) studies show widespread white matter disorganization in the early premanifest stages (pre...
journal_title:Annals of neurology
pub_type: 杂志文章,多中心研究
doi:10.1002/ana.25309
更新日期:2018-10-01 00:00:00
abstract:OBJECTIVE:To evaluate the ability of mesenchymal stem cells (MSCs), a subset of adult stem cells from bone marrow, to cure experimental autoimmune encephalomyelitis. METHODS:The outcome of the injection of MSCs, in mice immunized with the peptide 139-151 of the proteolipid protein (PLP), was studied analyzing clinical...
journal_title:Annals of neurology
pub_type: 杂志文章
doi:10.1002/ana.21076
更新日期:2007-03-01 00:00:00
abstract::We here report the second and third mutations in alphaB-crystallin causing myofibrillar myopathy. Two patients had adult-onset muscle weakness. Patient 1 had cervical, limb girdle, and respiratory muscle weakness and died of respiratory failure. Patient 2 had proximal and distal leg muscle weakness. Both had myopathic...
journal_title:Annals of neurology
pub_type: 杂志文章
doi:10.1002/ana.10767
更新日期:2003-12-01 00:00:00
abstract::In adult brain, during insulin-induced hypoglycemia, striatal extracellular fluid concentrations of the excitatory amino acids glutamate and aspartate rise markedly (fourfold to tenfold). In this study, we used in vivo microdialysis to determine if insulin-induced hypoglycemia altered striatal amino acid efflux in sim...
journal_title:Annals of neurology
pub_type: 杂志文章
doi:10.1002/ana.410280408
更新日期:1990-10-01 00:00:00
abstract::We report increased modification of proteins by 4-hydroxynonenal (HNE), a product of membrane lipid peroxidation, in the lumbar spinal cord of sporadic amyotrophic lateral sclerosis (ALS) patients versus that of neurologically normal controls. By immunohistochemistry, HNE-protein modification was detected in ventral h...
journal_title:Annals of neurology
pub_type: 杂志文章
doi:10.1002/ana.410440518
更新日期:1998-11-01 00:00:00
abstract::Antibodies to Ma1 and Ma2 proteins identify a paraneoplastic disorder that affects the limbic system, brain stem, and cerebellum. Preliminary studies suggested the existence of other Ma proteins and different patterns of immune response associated with distinct neurologic symptoms and cancers. In this study, our aim w...
journal_title:Annals of neurology
pub_type: 杂志文章
doi:
更新日期:2001-09-01 00:00:00
abstract:OBJECTIVE:The effect of prestroke aspirin use on initial severity, hemorrhagic transformation, and functional outcome of ischemic stroke is uncertain. METHODS:Using a multicenter stroke registry database, patients with acute ischemic stroke of three subtypes (large artery atherosclerosis [LAA], small vessel occlusion ...
journal_title:Annals of neurology
pub_type: 杂志文章
doi:10.1002/ana.24602
更新日期:2016-04-01 00:00:00
abstract::We have analyzed muscle biopsy specimens from 48 patients with biochemically proven phosphorylase deficiency (McArdle's disease) by sodium dodecylsulphate polyacrylamide gel electrophoresis (SDS-PAGE), immunoblotting, and immunotitration (enzyme-linked immunosorbent assay [ELISA]). Thirty-five of the 42 patients studi...
journal_title:Annals of neurology
pub_type: 杂志文章
doi:10.1002/ana.410240612
更新日期:1988-12-01 00:00:00
abstract::Ubiquitin ligases regulate quantities and activities of target proteins, often pleiotropically. The malin ubiquitin E3 ligase is reported to regulate autophagy, the misfolded protein response, microRNA silencing, Wnt signaling, neuronatin-mediated endoplasmic reticulum stress, and the laforin glycogen phosphatase. Mal...
journal_title:Annals of neurology
pub_type: 杂志文章
doi:10.1002/ana.24104
更新日期:2014-03-01 00:00:00
abstract::Although most therapeutic efforts and experimental stroke models focus on the concept of complete occlusion of the middle cerebral artery as a result of embolism from the carotid artery or cardiac chamber, relatively little is known about the stroke mechanism of intrinsic middle cerebral artery stenosis. Differences i...
journal_title:Annals of neurology
pub_type: 杂志文章
doi:10.1002/ana.10250
更新日期:2002-07-01 00:00:00
abstract::Previous studies have indicated increased immunoreactivity of the endogenous opioid peptide beta-endorphin in the cerebrospinal fluid (CSF) of infants under 2 years of age with apnea. To assess the role of endogenous opioids in the pathogenesis of apnea in children, the effect of oral treatment with the opioid antagon...
journal_title:Annals of neurology
pub_type: 杂志文章
doi:10.1002/ana.410270112
更新日期:1990-01-01 00:00:00
abstract::Infection by the human immunodeficiency virus type 1 (HIV-1) often results in neurological dysfunction including HIV dementia (HIVD). Alterations in cytokine and redox balance are thought to play important roles in the pathogenesis of HIVD, but the specific mechanisms underlying neuronal dysfunction and death are unkn...
journal_title:Annals of neurology
pub_type: 杂志文章
doi:10.1002/ana.10828
更新日期:2004-02-01 00:00:00
abstract::The neurodiagnostic criteria of Leigh syndrome have not yet been clearly redefined based on the expanding of molecular etiologies. We aimed to analyze 20 years of clinical, genetic, and magnetic resonance studies from our Leigh syndrome cohort to provide a detailed description of central nervous system lesions in Leig...
journal_title:Annals of neurology
pub_type: 杂志文章
doi:10.1002/ana.25789
更新日期:2020-08-01 00:00:00
abstract::We describe a new cause of spinal cord ischemia illustrated by two cases--compression by the diaphragmatic crus of a lumbar artery giving rise to a spinal artery. The diagnosis has been established by dynamic spinal angiography, showing complete occlusion of the lumbar artery. Surgical section of the diaphragmatic cru...
journal_title:Annals of neurology
pub_type: 杂志文章
doi:
更新日期:2000-08-01 00:00:00
abstract:OBJECTIVE:Recanalization of arterial obstruction is associated with improved clinical outcomes. There are no controlled data demonstrating whether arterial obstruction status predicts the treatment effect of intravenous (IV) tissue plasminogen activator (tPA). We aimed to determine if the presence of arterial obstructi...
journal_title:Annals of neurology
pub_type: 杂志文章,随机对照试验
doi:10.1002/ana.22444
更新日期:2011-10-01 00:00:00
abstract::Oxidative damage to DNA may play a role in both normal aging and in neurodegenerative diseases. We examined whether Alzheimer's disease (AD) is associated with increased oxidative damage to nDNA and mtDNA in postmortem brain tissue. We measured the oxidized nucleoside, 8-hydroxy-2'-deoxyguanosine (OH8dG), in DNA isola...
journal_title:Annals of neurology
pub_type: 杂志文章
doi:10.1002/ana.410360510
更新日期:1994-11-01 00:00:00
abstract::Advances in neuroimaging techniques, particularly high-resolution magnetic resonance imaging (MRI), have proved invaluable in identifying structural brain lesions in patients with epilepsy. The assumption that such focal lesions invariably predict the site of seizure origin may not be correct, however. We report a ser...
journal_title:Annals of neurology
pub_type: 杂志文章
doi:10.1002/1531-8249(199904)45:4<461::aid-ana7>3.0.co
更新日期:1999-04-01 00:00:00
abstract::We sought to determine whether the putative pontine micturition center in the human dorsal pons contains corticotrophin-releasing factor (CRF) neurons, and whether these neurons are depleted in patients with multiple system atrophy and bladder dysfunction. Brains were obtained at autopsy from 4 control subjects and 4 ...
journal_title:Annals of neurology
pub_type: 杂志文章
doi:10.1002/ana.1258
更新日期:2001-11-01 00:00:00
abstract::Nineteen diabetic patients, 12 type I (insulin-dependent) and 7 type II (late-onset, non-insulin-dependent), underwent nocturnal polygraphic monitoring after a daytime medical evaluation that included tests of vagal responses and, in 6 patients, pulmonary function and hypercapnic and hypoxic responses. Five lean type ...
journal_title:Annals of neurology
pub_type: 杂志文章
doi:10.1002/ana.410170415
更新日期:1985-04-01 00:00:00
abstract::The frequency with which patients presenting with acute or chronic noncompressive cord syndromes subsequently develop multiple sclerosis is uncertain. Magnetic resonance imaging (MRI) was performed on 121 patients with such syndromes to determine the frequency of asymptomatic brain lesions and to assess the sensitivit...
journal_title:Annals of neurology
pub_type: 杂志文章
doi:10.1002/ana.410220607
更新日期:1987-12-01 00:00:00
abstract:OBJECTIVE:Patients with temporal lobe epilepsy often display cognitive comorbidity with recurrent seizures. However, the cellular mechanisms underlying the impairment of neuronal information processing remain poorly understood in temporal lobe epilepsy. Within the hippocampal formation neuronal networks undergo major r...
journal_title:Annals of neurology
pub_type: 杂志文章
doi:10.1002/ana.24348
更新日期:2015-04-01 00:00:00
abstract::A patient is described who suffered a bilateral hemorrhagic infarction in the parasagittal cerebrum following neonatal asphyxia. This case confirms experimental results that show the parasagittal cerebrum is especially vulnerable to ischemic damage in newborns. ...
journal_title:Annals of neurology
pub_type: 杂志文章
doi:10.1002/ana.410210215
更新日期:1987-02-01 00:00:00
abstract::Freezing of gait (FOG) is a common and debilitating, but largely mysterious, symptom of Parkinson disease. In this review, we will discuss the cerebral substrate of FOG focusing on brain physiology and animal models. Walking is a combination of automatic movement processes, afferent information processing, and intenti...
journal_title:Annals of neurology
pub_type: 杂志文章,评审
doi:10.1002/ana.24778
更新日期:2016-11-01 00:00:00
abstract:OBJECTIVE:To understand how monosynaptic inputs onto adult-born dentate granule cells (DGCs) are altered in experimental mesial temporal lobe epilepsy (mTLE) and whether their integration differs from early-born DGCs that are mature at the time of epileptogenesis. METHODS:A dual-virus tracing strategy combining retrov...
journal_title:Annals of neurology
pub_type: 杂志文章
doi:10.1002/ana.24946
更新日期:2017-06-01 00:00:00
abstract::Latency measurements between three potentials (waves I, III, and IV/V) of the human brainstem auditory response can allow early detection of certain posterior fossa lesions. The diagnostic use of these interwave latencies requires knowledge of what factors may prolong them in the absence of disease. Hypothermia appear...
journal_title:Annals of neurology
pub_type: 杂志文章
doi:10.1002/ana.410030416
更新日期:1978-04-01 00:00:00
abstract::Averaged electroencephalographic activity related to rhythmic jerking movements was recorded in a patient with a complex neurological symptomatology. The diagnosis of a functional disorder was strongly suggested by his clinical course, inconsistent findings from physical examination, and negative workup. His abnormal ...
journal_title:Annals of neurology
pub_type: 杂志文章
doi:10.1002/ana.410200614
更新日期:1986-12-01 00:00:00