Abstract:
:Recently, variant mRNA transcripts for the astroglial glutamate transporter EAAT2 have been detected in brain tissues of 60% of patients with sporadic amyotrophic lateral sclerosis (SALS). We have tested the hypothesis that the gene for EAAT2 may be defective in some ALS cases. In 16 familial ALS (FALS) pedigrees without mutations in SOD1, we failed to detect genetic linkage to the EAAT2 locus. We next characterized the genomic organization of the EAAT2 gene and used single-strand conformation polymorphism analysis of genomic DNA to identify one novel mutation in a single SALS patient and two novel mutations in 2 affected FALS siblings. In the SALS patient, the mutation substitutes serine for an asparagine that might be involved in N-linked glycosylation of the EAAT2 protein. In the 2 affected individuals in the FALS family, we detected both a mutation in the 5' end of intron 7 and a silent G --> A transition at codon 234 in exon 5. It remains unclear whether this intron 7 mutation is related to the defective mRNA splicing. These studies indicate that germline mutations in the EAAT2 gene are infrequent and do not explain the presence of variant mRNA transcripts of EAAT2 in more than one-half of ALS cases.
journal_name
Ann Neuroljournal_title
Annals of neurologyauthors
Aoki M,Lin CL,Rothstein JD,Geller BA,Hosler BA,Munsat TL,Horvitz HR,Brown RH Jrdoi
10.1002/ana.410430514subject
Has Abstractpub_date
1998-05-01 00:00:00pages
645-53issue
5eissn
0364-5134issn
1531-8249journal_volume
43pub_type
杂志文章abstract:OBJECTIVE:To investigate in older adults without dementia the relationships between socioeconomic status (SES) in childhood and magnetic resonance imaging (MRI)-derived brain volume measures typical of brain aging and Alzheimer's disease (AD). METHODS:Using a cross-sectional and longitudinal observation approach, we i...
journal_title:Annals of neurology
pub_type: 杂志文章
doi:10.1002/ana.22631
更新日期:2012-05-01 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:Loss of cerebral autoregulation (CA) plays a key role in secondary neurologic injury. However, the regional distribution of CA impairment after acute cerebral injury remains unclear because, in clinical practice, CA is only assessed within a limited compartment. Here, we performed large-scale regional mapping...
journal_title:Annals of neurology
pub_type: 杂志文章
doi:10.1002/ana.25963
更新日期:2021-02-01 00:00:00
abstract::Intracranial abscesses are uncommon in the newborn. Observation of 2 infants and a review of the literature reveal that the offending organism was a Citrobacter in 12 of the 16 documented cases. In the Neonatal Meningitis Cooperative Study this organism was responsible for meningitis in only 4%. However, an analysis o...
journal_title:Annals of neurology
pub_type: 杂志文章
doi:10.1002/ana.410080308
更新日期:1980-09-01 00:00:00
abstract::Between 36 and 44 weeks after conception, telencephalic white matter in the newborn appears to be particularly vulnerable to insults that result in morphological disturbances. Available evidence indicates that this disorder (or group of disorders), named acquired perinatal leukoencephalopathy, reflects a decrease in b...
journal_title:Annals of neurology
pub_type: 杂志文章
doi:10.1002/ana.410160102
更新日期:1984-07-01 00:00:00
abstract::A 50,000-dalton polypeptide has been purified from fractions enriched with neurofibrillary tangles of paired helical filaments from human autopsy specimens of Alzheimer disease and senile dementia of the Alzheimer type. An antiserum to this polypeptide was raised in a rabbit. This antiserum formed an immunoprecipitati...
journal_title:Annals of neurology
pub_type: 杂志文章
doi:10.1002/ana.410060612
更新日期:1979-12-01 00:00:00
abstract::It has been proposed that early-onset familial Alzheimer's disease (FAD) and sporadic Alzheimer's disease (AD) have different causes, with FAD due to a single dominant gene with disease onset before the sixth decade, whereas sporadic AD has a later onset and is not associated with a dominant pattern of inheritance. Gi...
journal_title:Annals of neurology
pub_type: 杂志文章
doi:10.1002/ana.410320513
更新日期:1992-11-01 00:00:00
abstract::Cerebrospinal fluid and plasma vasopressin were measured in patients with cerebral disorders associated with varying levels of elevated intracranial pressure. The mean cerebrospinal fluid vasopressin concentration was significantly increased in patients with pseudotumor cerebri (2.0 +/- 0.2 [SEM] pg/ml), intracranial ...
journal_title:Annals of neurology
pub_type: 杂志文章
doi:10.1002/ana.410150506
更新日期:1984-05-01 00:00:00
abstract::We studied 23 patients with clinically defined mitochondrial encephalomyopathy, lactic acidosis, and stroke-like episodes (MELAS), 25 oligosymptomatic or asymptomatic maternal relatives, and 50 mitochondrial disease control subjects for the presence of a previously reported heteroplasmic point mutation at nt 3,243 in ...
journal_title:Annals of neurology
pub_type: 杂志文章
doi:10.1002/ana.410310408
更新日期:1992-04-01 00:00:00
abstract::Early differential diagnosis of motor neuropathies (MN) and lower motor neuron diseases (LMND) is important, as prognosis and therapeutic approaches are different. We evaluated the diagnostic contribution of the biopsy of the motor branch of the obturator nerve and gracilis muscle in 21 consecutive patients in which, ...
journal_title:Annals of neurology
pub_type: 杂志文章
doi:10.1002/ana.22110
更新日期:2011-01-01 00:00:00
abstract::Ganaxolone (3alpha-hydroxy-3beta-methyl-5alpha-pregnan-20-one) is a novel neurosteroid which has anticonvulsant properties in a number of seizure models as well as the ability to enhance function of the gamma-aminobutyric acid-A (GABA(A)) receptor complex via a neurosteroid binding site. The object of these experiment...
journal_title:Annals of neurology
pub_type: 杂志文章
doi:10.1002/ana.410440417
更新日期:1998-10-01 00:00:00
abstract::Previous work has shown that lesions in the lateral cerebellum involving the dentate nucleus impair both reaching and pinching movements in humans and monkeys. This study addressed the question of whether disruption of the cerebellar-thalamo-cortical pathway at the level of the thalamus would produce behavioral defici...
journal_title:Annals of neurology
pub_type: 杂志文章
doi:10.1002/ana.410380608
更新日期:1995-12-01 00:00:00
abstract:OBJECTIVE:Huntington disease (HD) is an inherited neurodegenerative disease caused by the mutant huntingtin gene (mHTT), which harbors expanded CAG repeats. We previously reported that the brain vessel density is higher in mice and patients with HD than in controls. The present study determines whether vascular functio...
journal_title:Annals of neurology
pub_type: 杂志文章
doi:10.1002/ana.24428
更新日期:2015-08-01 00:00:00
abstract::We studied patients with partial and primary generalized seizures using fluorine-18-labeled 2-fluorodeoxyglucose and positron emission tomography. Interictal studies of patients with partial seizures showed regions of focal or lateralized hypometabolism in 15 of 17 patients with unilateral electroencephalographic foci...
journal_title:Annals of neurology
pub_type: 杂志文章
doi:10.1002/ana.410150734
更新日期:1984-01-01 00:00:00
abstract::Mutations in AbetaPP cause deposition of Abeta amyloid fibrils in brain parenchyma and cerebral vessels, resulting in Alzheimer's disease (AD) and/or cerebral amyloid angiopathy (CAA). We report a novel mutation (L705V) within the Abeta sequence of AbetaPP in a family with autosomal dominant, recurrent intracerebral h...
journal_title:Annals of neurology
pub_type: 杂志文章
doi:10.1002/ana.20571
更新日期:2005-10-01 00:00:00
abstract::In inclusion body myositis, T cells invade and destroy nonnecrotic muscle fibers. The mechanism by which T cells damage muscle fibers in inflammatory myopathies is not known. In this study we have investigated the expression of Fas and Fas ligand in muscle in five patients with inclusion body myositis. Reverse transcr...
journal_title:Annals of neurology
pub_type: 杂志文章
doi:10.1002/ana.410430123
更新日期:1998-01-01 00:00:00
abstract::Multiple sclerosis patients who become pregnant experience a significant decrease in relapses that may be mediated by a shift in immune responses from T helper 1 to T helper 2. Animal models of multiple sclerosis have shown that the pregnancy hormone, estriol, can ameliorate disease and can cause an immune shift. We t...
journal_title:Annals of neurology
pub_type: 临床试验,杂志文章
doi:10.1002/ana.10301
更新日期:2002-10-01 00:00:00
abstract:OBJECTIVE:Alterations of the gut microbiome in Parkinson disease (PD) have been repeatedly demonstrated. However, little is known about whether such alterations precede disease onset and how they relate to risk and prodromal markers of PD. We investigated associations of these features with gut microbiome composition. ...
journal_title:Annals of neurology
pub_type: 杂志文章
doi:10.1002/ana.25788
更新日期:2020-08-01 00:00:00
abstract::Recently, transcranial Doppler sonography has been introduced into clinical practice for noninvasive investigation of the large intracranial arteries. To determine its accuracy for detection of stenosing or occluding lesions, 133 consecutive patients were studied by both transcranial Doppler sonography and selective c...
journal_title:Annals of neurology
pub_type: 杂志文章
doi:10.1002/ana.410280507
更新日期:1990-11-01 00:00:00
abstract::Volumetric magnetic resonance imaging analyses of 30 subjects were undertaken to quantify the global and temporal lobe atrophy in semantic dementia and Alzheimer's disease. Three groups of 10 subjects were studied: semantic dementia patients, Alzheimer's disease patients, and control subjects. The temporal lobe struct...
journal_title:Annals of neurology
pub_type: 杂志文章
doi:
更新日期:2001-04-01 00:00:00
abstract:OBJECTIVE:Cortical spreading depolarizations (CSDs) are intense and ubiquitous depolarization waves relevant for the pathophysiology of migraine and brain injury. CSDs disrupt the blood-brain barrier (BBB), but the mechanisms are unknown. METHODS:A total of six CSDs were evoked over 1 hour by topical application of 30...
journal_title:Annals of neurology
pub_type: 杂志文章
doi:10.1002/ana.25298
更新日期:2018-09-01 00:00:00
abstract::Molecular genetics has had a powerful impact on clinical neurology. Definitions of disease are changing from clinical criteria to DNA analysis, resolving questions about the nature of clinically similar but not identical diseases. Genetic counseling is more reliable. Concepts of mendelian inheritance are being tested ...
journal_title:Annals of neurology
pub_type: 杂志文章,评审
doi:10.1002/ana.410320213
更新日期:1992-08-01 00:00:00
abstract::A brief description is given of neurofibrillary changes of the paired helical filament type in a variety of chronic neurological diseases. These include subacute sclerosing panencephalitis, lead encephalopathy, tuberous sclerosis, Down syndrome, Hallervorden-Spatz disease, and lipofuscinosis. In these conditions, with...
journal_title:Annals of neurology
pub_type: 杂志文章
doi:10.1002/ana.410050311
更新日期:1979-03-01 00:00:00
abstract::Units linked to stimulation of the superior sagittal sinus were identified and recorded from in the trigeminocervical complex of the anesthetized cat. Iontophoresis of glutamate NMDA receptor agonists increased the baseline-firing rate of these neurons. Coejection of sumatriptan, 4991W93, or ergometrine resulted in a ...
journal_title:Annals of neurology
pub_type: 杂志文章
doi:10.1002/ana.10066
更新日期:2001-12-01 00:00:00
abstract::A unique phenotype of Waardenburg-Hirschsprung disease (WS4) accompanied by peripheral neuropathy and central dysmyelination has been recognized recently in association with SOX10 mutations. We report an infant boy with lethal congenital hypomyelinating neuropathy and WS4 who had a heterozygous SOX10 mutation (Q250X)....
journal_title:Annals of neurology
pub_type: 杂志文章
doi:10.1002/ana.10404
更新日期:2002-12-01 00:00:00
abstract::Five monkeys trained to perform with the extremity contralateral to a stimulus had unilateral neglect induced by frontal and reticular formation lesions. Postoperatively the performance of the animals was abnormal only on ipsilateral stimulation, which suggests that the mechanism underlying neglect in these subjects i...
journal_title:Annals of neurology
pub_type: 杂志文章
doi:10.1002/ana.410030609
更新日期:1978-06-01 00:00:00
abstract::More than a decade ago myasthenic symptoms were observed in rabbits immunized with acetylcholine receptor (AChR) [119] and AChR deficiency was found at the neuromuscular junction in human myasthenia gravis (MG) [36]. By 1977 the autoimmune character of MG and the pathogenic role of AChR antibodies had been established...
journal_title:Annals of neurology
pub_type: 杂志文章,评审
doi:10.1002/ana.410160502
更新日期:1984-11-01 00:00:00
abstract:OBJECTIVE:Somnambulism affects up to 4% of adults and constitutes one of the leading causes of sleep-related violence and self-injury. Diagnosing somnambulism with objective instruments is often difficult because episodes rarely occur in the laboratory. Because sleep deprivation can precipitate sleepwalking, we aimed t...
journal_title:Annals of neurology
pub_type: 杂志文章
doi:10.1002/ana.21339
更新日期:2008-04-01 00:00:00
abstract::Guillain-Barré syndrome (GBS) is a recognized entity for which the basis for diagnosis is descriptive in our present state of knowledge. Diagnosis rests upon pattern recognition of the clinical picture plus other features including elevated cerebrospinal fluid protein level, electrophysiological changes of marked slow...
journal_title:Annals of neurology
pub_type: 杂志文章
doi:10.1002/ana.410090703
更新日期:1981-01-01 00:00:00
abstract::A 45-year-old woman was diagnosed as having the unclassified form of botulism. Her intestines may have been predisposed to colonization with Clostridium botulinum because of a jejunoileal bypass procedure that had been done several years earlier. One other similar case has been reported. ...
journal_title:Annals of neurology
pub_type: 杂志文章
doi:10.1002/ana.410200516
更新日期:1986-11-01 00:00:00