abstract：:The mucopolysaccharidoses are caused by inherited deficiencies of lysosomal enzymes involved in the degradative pathway of glycosaminoglycans. Lysosomal storage leads to cellular and organ dysfunction, including mental retardation. Storage lesions are found throughout the diseased brain, but little is known about the ...

journal_title：Annals of neurology

authors： Heuer GG,Passini MA,Jiang K,Parente MK,Lee VM,Trojanowski JQ,Wolfe JH

更新日期：2002-12-01 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

authors： Inoue K,Shilo K,Boerkoel CF,Crowe C,Sawady J,Lupski JR,Agamanolis DP

更新日期：2002-12-01 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

authors： Weinberg A,Li S,Palmer M,Tyler KL

更新日期：2002-11-01 00:00:00

abstract：:Evidence implicating mitochondrial dysfunction in the central nervous system of patients with sporadic amyotrophic lateral sclerosis (SALS) has recently been accumulating. In contrast, data on mitochondrial function in skeletal muscle in SALS are scarce and controversial. We investigated the in situ properties of musc...

journal_title：Annals of neurology

authors： Echaniz-Laguna A,Zoll J,Ribera F,Tranchant C,Warter JM,Lonsdorfer J,Lampert E

更新日期：2002-11-01 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

authors： Yamada M,Sato T,Tsuji S,Takahashi H

更新日期：2002-11-01 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

authors： Sicotte NL,Liva SM,Klutch R,Pfeiffer P,Bouvier S,Odesa S,Wu TC,Voskuhl RR

更新日期：2002-10-01 00:00:00

abstract：:In CAG repeat diseases, affected neurons possess many cytoplasmic granules immunopositive for expanded polyglutamine stretches. Electron microscopic immunohistochemistry showed that the granules corresponded to lysosomes of primitive type. The results suggest that, in addition to the ubiquitin/proteasome pathway, muta...

journal_title：Annals of neurology

authors： Yamada M,Tsuji S,Takahashi H

更新日期：2002-10-01 00:00:00

abstract：:Persons affected with tuberous sclerosis complex (TSC) develop a wide range of neurological abnormalities including aberrant neuronal migration and seizures. In an effort to model TSC-associated central nervous system abnormalities in mice, we generated two independent lines of astrocyte-specific Tsc1 conditional knoc...

journal_title：Annals of neurology

authors： Uhlmann EJ,Wong M,Baldwin RL,Bajenaru ML,Onda H,Kwiatkowski DJ,Yamada K,Gutmann DH

更新日期：2002-09-01 00:00:00

abstract：:We analyzed the prion protein gene (PRNP) region in patients with transmissible spongiform encephalopathy associated with the PRNP D178N mutation. The results suggest that the D178N chromosomes had independent origins in each affected pedigree or apparently sporadic case. A de novo spontaneous PRNP mutation was observ...

journal_title：Annals of neurology

authors： Dagvadorj A,Petersen RB,Lee HS,Cervenakova L,Shatunov A,Budka H,Brown P,Gambetti P,Goldfarb LG

更新日期：2002-09-01 00:00:00

abstract：:Copper toxicity contributes to neuronal death in Wilson's disease and has been speculatively linked to the pathogenesis of Alzheimer's and prion diseases. We examined copper-induced neuronal death with the goal of developing neuroprotective strategies. Copper catalyzed an increase in hydroxyl radical generation in sol...

journal_title：Annals of neurology

authors： Sheline CT,Choi EH,Kim-Han JS,Dugan LL,Choi DW

更新日期：2002-08-01 00:00:00

abstract：:The possibility of detecting acute hypoxic-ischemic brain lesions by prenatal magnetic resonance imaging or ultrasound is low. We present a case of a fetus with a vein of Galen arteriovenous malformation in whom prenatal diffusion-weighted magnetic resonance imaging at 33 weeks of gestation clearly detected cerebral a...

journal_title：Annals of neurology

authors： Baldoli C,Righini A,Parazzini C,Scotti G,Triulzi F

更新日期：2002-08-01 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

authors： Wong KS,Gao S,Chan YL,Hansberg T,Lam WW,Droste DW,Kay R,Ringelstein EB

更新日期：2002-07-01 00:00:00

abstract：:Transcranial magnetic stimulation was performed in 2 patients with focal motor seizures in the right hand caused by a circumscribed tumor process affecting the left precentral gyrus. In both cases, paired-pulse transcranial magnetic stimulation showed a loss of intracortical inhibition for interstimulus intervals of 2...

journal_title：Annals of neurology

authors： Irlbacher K,Brandt SA,Meyer BU

更新日期：2002-07-01 00:00:00

abstract：:The genetic analysis of simple Mendelian epilepsies remains a key strategy in advancing our understanding of epilepsy. In this article, we describe a new family epilepsy syndrome, partial epilepsy with pericentral spikes, which we map to chromosome 4p15. We distinguish it clinically, electrophysiologically, and geneti...

journal_title：Annals of neurology

authors： Kinton L,Johnson MR,Smith SJ,Farrell F,Stevens J,Rance JB,Claudino AM,Duncan JS,Davis MB,Wood NW,Sander JW

更新日期：2002-06-01 00:00:00

abstract：:We studied the impact of cerebral amyloid angiopathy on tissue plasminogen activator-induced cerebral hemorrhages in APP23 transgenic mice. Results show that the intravenous administration of tissue plasminogen activator in APP23 mice leads to an increase in cerebral amyloid angiopathy-associated microhemorrhages and ...

journal_title：Annals of neurology

authors： Winkler DT,Biedermann L,Tolnay M,Allegrini PR,Staufenbiel M,Wiessner C,Jucker M

更新日期：2002-06-01 00:00:00

abstract：:We investigated the relationship between cerebral activity (measured with positron emission tomography) and word rate in normal subjects and aphasic patients listening to monosyllabic words at rates up to those encountered in normal speech. By measuring the slope of the regression of the individual activity-word rate ...

journal_title：Annals of neurology

authors： Leff A,Crinion J,Scott S,Turkheimer F,Howard D,Wise R

更新日期：2002-05-01 00:00:00

abstract：:Paraneoplastic chorea is described in 16 patients: 11 with limited small-cell carcinoma, 2 with lung cancer revealed by imaging, 1 with renal cell carcinoma, and 1 with lymphoma. All had CRMP-5-IgG; 6 also had ANNA-1 (anti-Hu), including 1 without evident cancer. Chorea was the initial and most prominent symptom in 11...

journal_title：Annals of neurology

authors： Vernino S,Tuite P,Adler CH,Meschia JF,Boeve BF,Boasberg P,Parisi JE,Lennon VA

更新日期：2002-05-01 00:00:00

abstract：:We explored the hypothesis that components of verbal memory are subserved by separate temporal lobe structures in patients with temporal lobe structures in patients with temporal lobe epilepsy [correction]. Uptake of 18F-fluorodeoxyglucose (FDG) measured by positron emission tomography, hippocampal volume, and memory ...

journal_title：Annals of neurology

authors： Weintrob DL,Saling MM,Berkovic SF,Berlangieri SU,Reutens DC

更新日期：2002-04-01 00:00:00

abstract：:The aim of this study was to evaluate the use of functional magnetic resonance imaging as an alternative to intraoperative electrocortical stimulation mapping for the localization of critical language areas in the temporoparietal region. We investigated several requirements that functional magnetic resonance imaging m...

journal_title：Annals of neurology

authors： Rutten GJ,Ramsey NF,van Rijen PC,Noordmans HJ,van Veelen CW

更新日期：2002-03-01 00:00:00

abstract：:In Alzheimer's disease (AD), loss of cortical and hippocampal choline acetyltransferase (ChAT) activity has been correlated with dementia severity and disease duration, and it forms the basis for current therapies. However, the extent to which reductions in ChAT activity are associated with early cognitive decline has...

journal_title：Annals of neurology

authors： DeKosky ST,Ikonomovic MD,Styren SD,Beckett L,Wisniewski S,Bennett DA,Cochran EJ,Kordower JH,Mufson EJ

更新日期：2002-02-01 00:00:00

abstract：:Huntington's disease is a genetic disorder that causes motor dysfunction, personality changes, dementia, and premature death. There is currently no effective therapy. Several transgenic models of Huntington's disease are available, the most widely used of which is the R6/2 mouse, because of its rapid disease progressi...

journal_title：Annals of neurology

authors： Hockly E,Cordery PM,Woodman B,Mahal A,van Dellen A,Blakemore C,Lewis CM,Hannan AJ,Bates GP

更新日期：2002-02-01 00:00:00

abstract：:Neurotrophic factors have been demonstrated to prevent the development of peripheral neuropathy in animal models, but the therapeutic use of these factors in human disease has been limited by the short serum half-life and dose-limiting side effects of these potent peptides. We used peripheral subcutaneous inoculation ...

journal_title：Annals of neurology

authors： Chattopadhyay M,Wolfe D,Huang S,Goss J,Glorioso JC,Mata M,Fink DJ

更新日期：2002-01-01 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

authors： Lynch JR,Pineda JA,Morgan D,Zhang L,Warner DS,Benveniste H,Laskowitz DT

更新日期：2002-01-01 00:00:00

abstract：:Mutations of copper,zinc-superoxide dismutase (cu,zn SOD) are found in patients with a familial form of amyotrophic lateral sclerosis. When expressed in transgenic mice, mutant human cu,zn SOD causes progressive loss of motor neurons with consequent paralysis and death. Expression profiling of gene expression in SOD1-...

journal_title：Annals of neurology

authors： Olsen MK,Roberds SL,Ellerbrock BR,Fleck TJ,McKinley DK,Gurney ME

更新日期：2001-12-01 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

authors： Goadsby PJ,Akerman S,Storer RJ

更新日期：2001-12-01 00:00:00

abstract：:Based on earlier findings that the presence of word comprehension impairment (a deficit in the meaning of words, or lexical semantics) in acute stroke was strongly associated with the presence of hypoperfusion or infarct in Wernicke's area, we tested the hypothesis that the severity of word comprehension impairment wa...

journal_title：Annals of neurology

authors： Hillis AE,Wityk RJ,Tuffiash E,Beauchamp NJ,Jacobs MA,Barker PB,Selnes OA

更新日期：2001-11-01 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

authors： Benarroch EE,Schmeichel AM

更新日期：2001-11-01 00:00:00

abstract：:Two extended haplotypes of the tau gene (H1 and H2) have been described. The frequency of H1 haplotype is increased in progressive supranuclear palsy (PSP). PSP is associated with filamentous tau lesions in neurons and glia, which are reportedly composed exclusively of tau isoforms with four repeats in the microtubule...

journal_title：Annals of neurology

authors： Liu WK,Le TV,Adamson J,Baker M,Cookson N,Hardy J,Hutton M,Yen SH,Dickson DW

更新日期：2001-10-01 00:00:00

abstract：:Membrane cofactor protein (CD46) is a member of a family of glycoproteins that are regulators of complement and prevent activation of complement on autologous cells. Recently, CD46 has been identified as the cellular receptor for human herpesvirus Type 6 (HHV-6). Elevated levels of soluble CD46 have been described in ...

journal_title：Annals of neurology

authors： Soldan SS,Fogdell-Hahn A,Brennan MB,Mittleman BB,Ballerini C,Massacesi L,Seya T,McFarland HF,Jacobson S

更新日期：2001-10-01 00:00:00

abstract：:Ocular flutter is a rare horizontal eye movement disorder characterized by rapid saccadic oscillations. It has been hypothesized that it is caused by loss of "pause" neuronal inhibition of "burst" neuron function in the paramedian pontine reticular formation (PPRF); however, there have been no imaging studies confirmi...

journal_title：Annals of neurology

authors： Schon F,Hodgson TL,Mort D,Kennard C

更新日期：2001-09-01 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

authors： Rosenfeld MR,Eichen JG,Wade DF,Posner JB,Dalmau J

更新日期：2001-09-01 00:00:00

abstract：:We assessed nigrostriatal dopaminergic function in Parkinson's disease (PD) patients undergoing a double-blind, placebo-controlled surgical trial of embryonic dopamine cell implantation. Forty PD patients underwent positron emission tomography (PET) imaging with [18F]fluorodopa (FDOPA) prior to randomization to transp...

journal_title：Annals of neurology

authors： Nakamura T,Dhawan V,Chaly T,Fukuda M,Ma Y,Breeze R,Greene P,Fahn S,Freed C,Eidelberg D

更新日期：2001-08-01 00:00:00

abstract：:This study assessed whether or not levodopa induces dyskinesias in normal (ie, unlesioned) squirrel monkeys. All six animals treated twice daily with levodopa (15 mg/kg with carbidopa by oral gavage) for two weeks developed choreoathetoid dyskinesias, whereas none of the vehicle-treated animals displayed any abnormal ...

journal_title：Annals of neurology

authors： Togasaki DM,Tan L,Protell P,Di Monte DA,Quik M,Langston JW

更新日期：2001-08-01 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

authors： Andreassen OA,Ferrante RJ,Huang HM,Dedeoglu A,Park L,Ferrante KL,Kwon J,Borchelt DR,Ross CA,Gibson GE,Beal MF

更新日期：2001-07-01 00:00:00

abstract：:Results of case-control studies and of a prospective investigation in men suggest that consumption of coffee could protect against the risk of Parkinson's disease, but the active constituent is not clear. To address the hypothesis that caffeine is protective against Parkinson's disease, we examined the relationship of...

journal_title：Annals of neurology

authors： Ascherio A,Zhang SM,Hernán MA,Kawachi I,Colditz GA,Speizer FE,Willett WC

更新日期：2001-07-01 00:00:00

abstract：:Several mutations in the amyloid precursor protein (APP) gene have been found to associate with pathologic deposition of the beta-amyloid peptide (Abeta) in neuritic plaques or in the walls of cerebral vessels. We report a mutation at a novel site in APP in a three-generation Iowa family with autosomal dominant dement...

journal_title：Annals of neurology

authors： Grabowski TJ,Cho HS,Vonsattel JP,Rebeck GW,Greenberg SM

更新日期：2001-06-01 00:00:00

abstract：:Platelet-derived growth factor (PDGF) ligand is a potent glial cell mitogen. When its cognate receptor (PDGF-alphaR) is expressed on oligodendroglial lineage cells, such cells are considered capable of division, and the receptor thus serves as a phenotypic marker for oligodendrocyte precursor cells. Here we identify u...

journal_title：Annals of neurology

authors： Maeda Y,Solanky M,Menonna J,Chapin J,Li W,Dowling P

更新日期：2001-06-01 00:00:00

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 immunoaffini...

journal_title：Annals of neurology

authors： Nelson KB,Grether JK,Croen LA,Dambrosia JM,Dickens BF,Jelliffe LL,Hansen RL,Phillips TM

更新日期：2001-05-01 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

authors： Vissing J,Gansted U,Quistorff B

更新日期：2001-05-01 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

authors： Chan D,Fox NC,Scahill RI,Crum WR,Whitwell JL,Leschziner G,Rossor AM,Stevens JM,Cipolotti L,Rossor MN

更新日期：2001-04-01 00:00:00