Abstract:
:A dinucleotide repeat polymorphism in a tau intron was identified and used in a case-control study to analyze the genetic association of tau with several neurodegenerative diseases with tau pathology. Subjects with the homozygous tau AO alleles were excessively represented in the progressive supranuclear palsy (PSP) group, compared with the age-matched healthy control group. Consequently, this allele is more frequently found in PSP than in a group of healthy subjects. This trend was not found in Alzheimer's disease or parkinsonism-dementia complex of Guam, both of which are accompanied by major tau pathology. The result suggests a possible involvement of tau in the pathogenesis of PSP.
journal_name
Ann Neuroljournal_title
Annals of neurologyauthors
Conrad C,Andreadis A,Trojanowski JQ,Dickson DW,Kang D,Chen X,Wiederholt W,Hansen L,Masliah E,Thal LJ,Katzman R,Xia Y,Saitoh Tdoi
10.1002/ana.410410222subject
Has Abstractpub_date
1997-02-01 00:00:00pages
277-81issue
2eissn
0364-5134issn
1531-8249journal_volume
41pub_type
杂志文章abstract::We present our approach to the diagnosis of pediatric neurotransmitter diseases exemplified by the differential diagnosis of children presenting with dystonia. This approach is based upon the primary aim of early diagnosis of treatable conditions and the need for a logical series of investigations. We have tried to be...
journal_title:Annals of neurology
pub_type: 杂志文章,评审
doi:10.1002/ana.10628
更新日期:2003-01-01 00:00:00
abstract:OBJECTIVE:Axonal degeneration is a main contributor to disability in progressive neurodegenerative diseases in which oxidative stress is often identified as a pathogenic factor. We aim to demonstrate that antioxidants are able to improve axonal degeneration and locomotor deficits in a mouse model of X-adrenoleukodystro...
journal_title:Annals of neurology
pub_type: 杂志文章
doi:10.1002/ana.22363
更新日期:2011-07-01 00:00:00
abstract:OBJECTIVE:To analyze the cumulative efficacy and safety of everolimus in treating subependymal giant cell astrocytomas (SEGA) associated with tuberous sclerosis complex (TSC) from an open-label phase II study (NCT00411619). Updated data became available from the conclusion of the extension phase and are presented in th...
journal_title:Annals of neurology
pub_type: 杂志文章
doi:10.1002/ana.24523
更新日期:2015-12-01 00:00:00
abstract::Very long chain acyl-coenzyme A (acyl-CoA) dehydrogenase (VLCAD) deficiency is a severe disorder of mitochondrial beta-oxidation in infants. We report adult onset of attacks of painful rhabdomyolysis. Gas chromatography identified strongly elevated levels of tetradecenoic acid, 14:1(n-9), tetradecadienoic acid, 14:2(n...
journal_title:Annals of neurology
pub_type: 杂志文章
doi:10.1002/ana.410430422
更新日期:1998-04-01 00:00:00
abstract::The nucleotide sequence of human T-lymphotropic virus type I (HTLV-I) in central nervous system tissue was determined in 3 autopsy cases with HTLV-I-associated myelopathy (HAM)/tropical spastic paraparesis (TSP) and 1 seropositive carrier without HAM/TSP but with multiple sclerosis. All HAM/TSP samples (3 spinal cords...
journal_title:Annals of neurology
pub_type: 杂志文章
doi:10.1002/ana.410360206
更新日期:1994-08-01 00:00:00
abstract::Layer II of the entorhinal cortex contains the cells of origin for the perforant path, plays a critical role in memory processing, and consistently degenerates in end-stage Alzheimer's disease. The extent to which neuron loss in layer II of entorhinal cortex is related to mild cognitive impairment without dementia has...
journal_title:Annals of neurology
pub_type: 杂志文章
doi:
更新日期:2001-02-01 00:00:00
abstract::Patients with atrial fibrillation are at risk for cerebral embolism; however, the roles of chronic anticoagulation or antiplatelet therapy for stroke prevention in patients with nonvalvular atrial fibrillation have been controversial. Recently, the results of three large prospective randomized trials that examined the...
journal_title:Annals of neurology
pub_type: 杂志文章,评审
doi:10.1002/ana.410300402
更新日期:1991-10-01 00:00:00
abstract::As more small peptidergic components of the central nervous system are isolated, their role in disease states is being investigated. Several of these neuropeptides, especially the opioidlike peptides, adrenocorticotropic hormone, and some hypothalamic releasing factors, have been found to alter neuronal excitability. ...
journal_title:Annals of neurology
pub_type: 杂志文章
doi:10.1002/ana.410160707
更新日期:1984-01-01 00:00:00
abstract::D2 dopamine receptor densities were measured in postmortem samples of the caudate nucleus and putamen from 36 parkinsonian patients. The relationship between the age of the patient, duration of the disease, and duration of L-dopa therapy versus density of brain D2 dopamine receptors was examined using [3H]spiperone. R...
journal_title:Annals of neurology
pub_type: 杂志文章
doi:10.1002/ana.410190510
更新日期:1986-05-01 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::The prevalence of clinical signs and neuropathological findings of Alzheimer's disease (AD) is high in Down's syndrome (DS). In the general population, the apolipoprotein E (ApoE) epsilon 4 isoform is an important risk for AD. We studied the allelic frequencies of ApoE in 26 DS cases fulfilling clinical diagnostic cri...
journal_title:Annals of neurology
pub_type: 杂志文章
doi:10.1002/ana.410380215
更新日期:1995-08-01 00:00:00
abstract::We describe a 50-year-old male patient with hyponatremia (serum sodium level, 128 mEq/L) discovered during routine follow-up for Henoch-Schönlein nephritis. The patient was known to have a generalized idiopathic epilepsy and was on 2,000 mg/day of sodium valproate. After exclusion of other causes such as hypothyroidis...
journal_title:Annals of neurology
pub_type: 杂志文章
doi:10.1002/ana.410430219
更新日期:1998-02-01 00:00:00
abstract::A 51-year-old man presented with a six-year history of gradually progressive exertional dyspnea. His complaint was attributed to increasing age, but evaluation finally led to a diagnosis of diaphragmatic paralysis. Neurological examination disclosed only minimal evidence of weakness of limb muscles. Electromyographic ...
journal_title:Annals of neurology
pub_type: 杂志文章
doi:10.1002/ana.410090618
更新日期:1981-06-01 00:00:00
abstract::Interferon beta-1b reduces clinical exacerbations and disease activity in multiple sclerosis as shown by magnetic resonance imaging, but the mechanism of action is unknown. We investigated the correlation between the levels of soluble adhesion molecules and a reduction in contrast-enhancing lesions on gadopentetate di...
journal_title:Annals of neurology
pub_type: 临床试验,杂志文章
doi:10.1002/ana.410410517
更新日期:1997-05-01 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::The duration of the antiparkinsonian action of levodopa was studied in 48 patients with various response patterns to the oral administration of the dopamine precursor. Deterioration in motor scores after abrupt cessation of a steady-state intravenous levodopa infusion occurred at two successive rates: an initial rapid...
journal_title:Annals of neurology
pub_type: 杂志文章
doi:10.1002/ana.410240303
更新日期:1988-09-01 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:OBJECTIVE:The primary imaging modalities used to select patients for endovascular thrombectomy (EVT) are noncontrast computed tomography (CT) and CT perfusion (CTP). However, their relative utility is uncertain. We prospectively assessed CT and CTP concordance/discordance and correlated the imaging profiles on both wit...
journal_title:Annals of neurology
pub_type: 杂志文章,多中心研究
doi:10.1002/ana.25669
更新日期:2020-03-01 00:00:00
abstract::The mechanism underlying mirrored activity/movements in normal individuals is unknown. To investigate this, we studied 11 adults and 39 children who performed sequential finger-thumb opposition or repetitive index finger abduction. Surface electromyographic (EMG) activity recorded from the left and right first dorsal ...
journal_title:Annals of neurology
pub_type: 杂志文章
doi:10.1002/1531-8249(199905)45:5<583::aid-ana6>3.0.co
更新日期:1999-05-01 00:00:00
abstract::White matter degeneration is one of the pathological conditions of dentatorubral-pallidoluysian atrophy. Autopsy brains exhibited a reduced number of glial cells in the lesions and an involvement of oligodendrocytes in nuclear inclusion formation, which previously has been recognized only as a pathological hallmark in...
journal_title:Annals of neurology
pub_type: 杂志文章
doi:10.1002/ana.10352
更新日期:2002-11-01 00:00:00
abstract::Demonstration of intrathecal IgG production is employed in the diagnosis of various neurological disorders. This pathological IgG fraction in cerebrospinal fluid (CSF) can be visualized directly as oligoclonal bands by electrophoresis or isoelectric focusing or can be calculated as "excess" or "synthesized" IgG accord...
journal_title:Annals of neurology
pub_type: 杂志文章
doi:10.1002/ana.410170105
更新日期:1985-01-01 00:00:00
abstract::Emotional blunting can be found after cerebellar lesions. However, the mechanism of such a modification is not clear. We present a patient with emotional flattening and increased risk taking after left cerebellar infarct who had an impaired autonomic reactivity to negative as compared with positive reinforcement. This...
journal_title:Annals of neurology
pub_type: 杂志文章
doi:10.1002/ana.10549
更新日期:2003-05-01 00:00:00
abstract::We report early-onset parkinsonism and dementia of 18 years' duration in a 52-year-old man whose grandfather and father had suffered from a similar neurological disease. In this patient, we found neuronal loss in various brain regions including the substantia nigra and cerebral cortex, Lewy bodies, cotton wool plaques...
journal_title:Annals of neurology
pub_type: 杂志文章
doi:10.1002/ana.20393
更新日期:2005-03-01 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::Brainstem auditory evoked responses (BAERs) were recorded from 202 patients with definite, probable, or possible multiple sclerosis (MS). Definitions of abnormality were based only on interwave separations and the wave I/wave V amplitude ratio. Thirty-two percent of the patients had abnormal BAERs, and the presence of...
journal_title:Annals of neurology
pub_type: 杂志文章
doi:10.1002/ana.410070208
更新日期:1980-02-01 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::We studied sleep patterns for three nights in 10 subjects with moderate to severe progressive supranuclear palsy and correlated the findings with disease severity using quantitative measures of motor, cognitive, and eye movement impairment. All subjects had severe insomnia, spending 2 to 6 hours awake per night; the m...
journal_title:Annals of neurology
pub_type: 杂志文章
doi:10.1002/ana.410250609
更新日期:1989-06-01 00:00:00
abstract:OBJECTIVE:Human immunodeficiency virus (HIV) infection of the central nervous system (CNS) is frequently associated with intrathecal immunoglobulin synthesis and cerebrospinal fluid (CSF) pleocytosis, but little is known about the B-cell response in the CSF of these patients. In this study, we investigated the relation...
journal_title:Annals of neurology
pub_type: 杂志文章
doi:10.1002/ana.21195
更新日期:2007-11-01 00:00:00
abstract::We describe the first non-Ashkenazi patient with adult polyglucosan body disease and decreased glycogen-branching enzyme (GBE) activity in leukocytes. Gene analysis revealed compound heterozygosity for two novel missense mutations Arg515His and Arg524Gln in the GBE gene. Both missense mutations are predicted to impair...
journal_title:Annals of neurology
pub_type: 杂志文章
doi:
更新日期:2000-04-01 00:00:00
abstract:OBJECTIVE:A study was undertaken to describe the clinical spectrum, voltage-gated potassium channel (VGKC) complex antibody specificities, and central nervous system localization of antibody binding in 29 patients diagnosed with Morvan syndrome (MoS). METHODS:Clinical data were collected using questionnaires. Radioimm...
journal_title:Annals of neurology
pub_type: 杂志文章,多中心研究
doi:10.1002/ana.23577
更新日期:2012-08-01 00:00:00