Abstract:
:There has been little exploration of major biologic regulators of cerebral development in autism. In archived neonatal blood of children with autistic spectrum disorders (n = 69), mental retardation without autism (n = 60), or cerebral palsy (CP, n = 63) and of control children (n = 54), we used recycling immunoaffinity chromatography to measure the neuropeptides substance P (SP), vasoactive intestinal peptide (VIP), pituitary adenylate cyclase-activating polypeptide (PACAP), calcitonin gene-related peptide (CGRP), and the neurotrophins nerve growth factor (NGF), brain-derived neurotrophic factor (BDNF), neurotrophin 3 (NT3), and neurotrophin 4/5 (NT4/5). Neonatal concentrations of VIP, CGRP, BDNF, and NT4/5 were higher (ANOVA, all p values < 0.0001 by Scheffe test for pairwise differences) in children in the autistic spectrum and in those with mental retardation without autism than in control children. In 99% of children with autism and 97% with mental retardation, levels of at least one of these substances exceeded those of all control children. Concentrations were similar in subgroups of the autistic spectrum (core syndrome with or without mental retardation, other autistic spectrum disorders with or without mental retardation) and in the presence or absence of a history of regression. Among children with mental retardation, concentrations did not differ by severity or known cause (n = 11, including 4 with Down syndrome). Concentrations of measured substances were similar in children with CP as compared with control subjects. SP, PACAP, NGF, and NT3 were not different by diagnostic group. No measured analyte distinguished children with autism from children with mental retardation alone. In autism and in a heterogeneous group of disorders of cognitive function, overexpression of certain neuropeptides and neurotrophins was observed in peripheral blood drawn in the first days of life.
journal_name
Ann Neuroljournal_title
Annals of neurologyauthors
Nelson KB,Grether JK,Croen LA,Dambrosia JM,Dickens BF,Jelliffe LL,Hansen RL,Phillips TMkeywords:
subject
Has Abstractpub_date
2001-05-01 00:00:00pages
597-606issue
5eissn
0364-5134issn
1531-8249journal_volume
49pub_type
杂志文章abstract::Four examples of grossly mineralized lesions of the brain, causing seizures, are described; they include 2 hamartomas, a choristoma (novel associations), and an idiopathic "brain stone." Each was detectable with routine roentgenograms, and the seizures were ameliorated by surgical therapy. ...
journal_title:Annals of neurology
pub_type: 杂志文章
doi:10.1002/ana.410020413
更新日期:1977-10-01 00:00:00
abstract::Characteristic visual symptoms and signs in 12 patients with neoplasms or aneurysms involving the optic tract are summarized. Blurred vision was the most common initial manifestation. Optic atrophy became apparent in 7 of the 12 patients. Most patients had uniocular central scotomas with reduced visual acuity, and 2 h...
journal_title:Annals of neurology
pub_type: 杂志文章
doi:10.1002/ana.410030302
更新日期:1978-03-01 00:00:00
abstract::Central motor conduction times for the adductor pollicis muscle, the twitch force of that muscle to scalp magnetic motor cortex stimulation, and the maximum force of phasic voluntary contraction of the same muscle were measured in 15 patients with multiple sclerosis. Two tests of manual dexterity of the same hand also...
journal_title:Annals of neurology
pub_type: 杂志文章
doi:10.1002/ana.410290104
更新日期:1991-01-01 00:00:00
abstract::Despite many years of intensive research, multiple sclerosis (MS) defies understanding and treatment remains suboptimal. The prevailing hypothesis is that MS is immune mediated and that experimental allergic encephalomyelitis (EAE) is a suitable model to elucidate pathogenesis and devise therapy. This review examines ...
journal_title:Annals of neurology
pub_type: 杂志文章,评审
doi:10.1002/ana.20743
更新日期:2005-12-01 00:00:00
abstract::In vivo phosphorus nuclear magnetic resonance spectroscopy (31P NMR) was used to evaluate the pattern of phosphate compounds in seven newborn babies (mean gestational age, 32 weeks; birth weight, 1,430 gm; age, 37 days) with a history of perinatal asphyxia. Spectra were collected in a 1.9 Tesla superconductive magnet ...
journal_title:Annals of neurology
pub_type: 杂志文章
doi:10.1002/ana.410160509
更新日期:1984-11-01 00:00:00
abstract:OBJECTIVE:Clinical outcomes in multiple sclerosis (MS) are highly variable. We aim to determine the long-term clinical outcomes in MS, and to identify early prognostic features of these outcomes. METHODS:One hundred thirty-two people presenting with a clinically isolated syndrome were prospectively recruited between 1...
journal_title:Annals of neurology
pub_type: 杂志文章
doi:10.1002/ana.25637
更新日期:2020-01-01 00:00:00
abstract:OBJECTIVE:To develop RNA splicing biomarkers of disease severity and therapeutic response in myotonic dystrophy type 1 (DM1) and type 2 (DM2). METHODS:In a discovery cohort, we used microarrays to perform global analysis of alternative splicing in DM1 and DM2. The newly identified splicing changes were combined with p...
journal_title:Annals of neurology
pub_type: 杂志文章
doi:10.1002/ana.23992
更新日期:2013-12-01 00:00:00
abstract::The consequences of axonal injuries in the adult nervous system depend on the location of the axons: complete anatomical and functional repair can occur in the peripheral but not the central nervous system. A quantitative electron microscopical comparison of the reactions to axonal injuries in a peripheral site (the s...
journal_title:Annals of neurology
pub_type: 杂志文章
doi:10.1002/ana.410030203
更新日期:1978-02-01 00:00:00
abstract::The anatomy of the recently discovered diencephalospinal dopaminergic system is summarized and its possible role in physiological and pathological processes suggested. The cell bodies of origin of this system are localized periventricularly in the dorsal hypothalamus and caudal thalamus, and the terminal innervations ...
journal_title:Annals of neurology
pub_type: 杂志文章
doi:10.1002/ana.410140302
更新日期:1983-09-01 00:00:00
abstract::The reported inverse association between the S18Y variant of the ubiquitin carboxy-terminal hydrolase L1 (UCHL1) gene and Parkinson's disease (PD) has strong biological plausibility. If confirmed, genetic association of this variant with PD may support molecular targeting of the UCHL1 gene and its product as a therape...
journal_title:Annals of neurology
pub_type: 杂志文章,meta分析
doi:10.1002/ana.20017
更新日期:2004-04-01 00:00:00
abstract::In patients with Parkinson's disease and in normal subjects, the influence of tremor on repetitive voluntary movement was investigated in the index finger by comparing frequency of isometric force tremor with frequency of voluntary alternating isometric contractions. Tremor frequency, measured over the range from 0 to...
journal_title:Annals of neurology
pub_type: 杂志文章
doi:10.1002/ana.410300208
更新日期:1991-08-01 00:00:00
abstract::Recent reports showed many patients with chronic fatigue syndrome (CFS) harbor a retrovirus, xenotropic murine leukemia-related virus (XMRV), in blood; other studies could not replicate this finding. A useful next step would be to examine cerebrospinal fluid, because in some patients CFS is thought to be a brain disor...
journal_title:Annals of neurology
pub_type: 杂志文章
doi:10.1002/ana.22389
更新日期:2011-04-01 00:00:00
abstract::We describe a 33-year-old homosexual man with a steroid-responsive, remitting and relapsing leukoencephalopathy associated with recent human immunodeficiency virus type 1 (HIV-1) seroconversion. Biopsy of a parieto-occipital lesion revealed demyelination and astrogliosis with focal necrosis. Detailed investigations de...
journal_title:Annals of neurology
pub_type: 杂志文章
doi:10.1002/ana.410310107
更新日期:1992-01-01 00:00:00
abstract::The development of a neuroprotective therapy that slows, stops, or reverses neurodegeneration in Parkinson's disease (PD) is the single most important unresolved issue in the management of this disorder. Current therapies provide effective control of symptoms, particularly in the early stages of the disease, but disea...
journal_title:Annals of neurology
pub_type: 杂志文章,评审
doi:10.1002/ana.21461
更新日期:2008-12-01 00:00:00
abstract::Benzodiazepines can regulate neoplastic growth and immune response through specific peripheral benzodiazepine receptors. We investigated the presence of peripheral and classic central benzodiazepine receptors as well as diazepam-binding inhibitor, an endogenous ligand of both types of receptors, in different human cer...
journal_title:Annals of neurology
pub_type: 杂志文章
doi:10.1002/ana.410260411
更新日期:1989-10-01 00:00:00
abstract:OBJECTIVE:To create a data-driven computational model that identifies brain regions most frequently influenced by successful deep brain stimulation (DBS) of the globus pallidus (GP) for advanced, medication-resistant, generalized dystonia. METHODS:We studied a retrospective cohort of 21 DYT1 primary dystonia patients ...
journal_title:Annals of neurology
pub_type: 杂志文章
doi:10.1002/ana.24187
更新日期:2014-07-01 00:00:00
abstract::In a double-blinded, placebo-controlled, crossover study in seven mitochondrial myopathy patients (MM), we investigated whether lowering of lactate with dichloroacetate (DCA) can improve exercise tolerance and oxidative capacity in MM. DCA lowered plasma lactate at rest and during exercise (from 10.5 +/- 2.0 to 5.0 +/...
journal_title:Annals of neurology
pub_type: 临床试验,杂志文章,随机对照试验
doi:
更新日期:2001-05-01 00:00:00
abstract::Adult polyglucosan body disease (APBD) is a late-onset, slowly progressive disorder of the nervous system caused by glycogen branching enzyme (GBE) deficiency in a subgroup of patients of Ashkenazi Jewish origin. Similar biochemical finding is shared by glycogen storage disease type IV (GSD IV) that, in contrast to AP...
journal_title:Annals of neurology
pub_type: 杂志文章
doi:10.1002/ana.410440604
更新日期:1998-12-01 00:00:00
abstract:OBJECTIVE:Fast oscillations (FOs) were first explored from scalp electroencephalographic (EEG) data from hypsarrhythmia in West syndrome (infantile spasms) to investigate the meaning of FOs in this epileptic encephalopathy. METHODS:In 17 infants with West syndrome, we conservatively detected fast frequency peaks that ...
journal_title:Annals of neurology
pub_type: 杂志文章
doi:10.1002/ana.24299
更新日期:2015-01-01 00:00:00
abstract::A hereditary ceruloplasmin deficiency associated with severe iron deposition in visceral organ and brain tissues found on histopathological examination at autopsy is discussed. Three siblings of consanguineous Japanese parents were studied. Their clinical symptoms were progressive dementia, extrapyramidal disorders, c...
journal_title:Annals of neurology
pub_type: 杂志文章
doi:10.1002/ana.410370515
更新日期:1995-05-01 00:00:00
abstract:OBJECTIVE:Abnormal cortical excitability is evident in various movement disorders that compromise fine motor control. Here we tested whether skilled finger movements can be restored in musicians with focal hand dystonia through behavioral training assisted by transcranial direct current stimulation to the motor cortex ...
journal_title:Annals of neurology
pub_type: 杂志文章
doi:10.1002/ana.24151
更新日期:2014-05-01 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::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::Parkinsonism occurs in approximately 35 to 40% of patients with Alzheimer's disease (AD) even with little or no neuronal degeneration in the substantia nigra, which in idiopathic Parkinson's disease (PD) results in the severe loss of striatal dopamine transporter sites. It is not known if there is a loss of striatal d...
journal_title:Annals of neurology
pub_type: 杂志文章
doi:10.1002/ana.410370306
更新日期:1995-03-01 00:00:00
abstract:OBJECTIVE:The dose-response effects of dysferlin transgenesis were analyzed to determine if the dysferlin-deficient myopathies are good candidates for gene replacement therapy. METHODS:We have generated 3 lines of transgenic mice, expressing low, mid, and high levels of full-length human dysferlin from a muscle-specif...
journal_title:Annals of neurology
pub_type: 杂志文章
doi:10.1002/ana.21926
更新日期:2010-03-01 00:00:00
abstract::Dichloroacetate (DCA) stimulates pyruvate dehydrogenase complex (PDHC) activity and lowers cerebral lactate concentrations. In the R6/2 and N171-82Q transgenic mouse models of Huntington's disease (HD), DCA significantly increased survival, improved motor function, delayed loss of body weight, attenuated the developme...
journal_title:Annals of neurology
pub_type: 杂志文章
doi:10.1002/ana.1085
更新日期:2001-07-01 00:00:00
abstract::Apolipoprotein E has been implicated in modifying neurological outcome after traumatic brain injury, although the mechanisms by which this occurs remain poorly defined. To investigate the role of endogenous apolipoprotein E following acute brain injury, noninvasive magnetic resonance imaging was performed on anestheti...
journal_title:Annals of neurology
pub_type: 杂志文章
doi:10.1002/ana.10098
更新日期:2002-01-01 00:00:00
abstract::To determine whether the association of the very low density lipoprotein receptor (VLDL-R) gene with Alzheimer's disease (AD), which has recently been identified in Japanese AD patients, is commonly observed in AD patients of other ethnic backgrounds, we have investigated the allele frequency of the polymorphic CGG re...
journal_title:Annals of neurology
pub_type: 杂志文章
doi:10.1002/ana.410400220
更新日期:1996-08-01 00:00:00
abstract::The disappearance rates from plasma of intravenously administered levo-norepinephrine (l-NE), dextro-norepinephrine (d-NE), and isoproterenol (ISO) were measured in normal subjects and in patients with either multiple-system atrophy (MSA) or idiopathic orthostatic hypotension (IOH). The two isomers, l-NE and d-NE, wer...
journal_title:Annals of neurology
pub_type: 杂志文章
doi:10.1002/ana.410180109
更新日期:1985-07-01 00:00:00
abstract::We report the first molecular defect in an NADH-dehydrogenase gene presenting as isolated myopathy. The proband had lifelong exercise intolerance but no weakness. A muscle biopsy showed cytochrome c oxidase (COX)-positive ragged-red fibers (RRFs), and analysis of the mitochondrial enzymes revealed complex I deficiency...
journal_title:Annals of neurology
pub_type: 杂志文章
doi:10.1002/1531-8249(199906)45:6<820::aid-ana22>3.0.c
更新日期:1999-06-01 00:00:00