DNA repair pathways underlie a common genetic mechanism modulating onset in polyglutamine diseases.

abstract：:N-acetylaspartate (NAA) contributes to the most prominent signal in proton magnetic resonance spectroscopy (1H-MRS) of the adult human brain. We report the absence of NAA in the brain of a 3-year-old child with neurodevelopmental retardation and moderately delayed myelination. Since normal concentration of NAA in body...

journal_title：Annals of neurology

authors： Martin E,Capone A,Schneider J,Hennig J,Thiel T

更新日期：2001-04-01 00:00:00

abstract：OBJECTIVE:Infantile spasms are seizures associated with a severe epileptic encephalopathy presenting in the first 2 years of life, and optimal treatment continues to be debated. This study evaluates early and sustained response to initial treatments and addresses both clinical remission and electrographic resolution of...

journal_title：Annals of neurology

authors： Knupp KG,Coryell J,Nickels KC,Ryan N,Leister E,Loddenkemper T,Grinspan Z,Hartman AL,Kossoff EH,Gaillard WD,Mytinger JR,Joshi S,Shellhaas RA,Sullivan J,Dlugos D,Hamikawa L,Berg AT,Millichap J,Nordli DR Jr,Wirrell E,

更新日期：2016-03-01 00:00:00

abstract：:In a prospective phase I/II clinical study, we treated eight patients suffering from recurrent glioblastoma multiform with stereotactically guided intratumoral convection-enhanced delivery of an HSV-1-tk gene-bearing liposomal vector and systemic ganciclovir. Noninvasive identification of target tissue together with a...

journal_title：Annals of neurology

authors： Voges J,Reszka R,Gossmann A,Dittmar C,Richter R,Garlip G,Kracht L,Coenen HH,Sturm V,Wienhard K,Heiss WD,Jacobs AH

更新日期：2003-10-01 00:00:00

abstract：:The pharmacokinetics of levodopa (L-dopa) in plasma and in cisternal and lumbar cerebrospinal fluid (CSF) were studied in Rhesus monkeys that were given 2- to 3-hour intravenous infusions of L-dopa. Steady-state L-dopa concentrations in cisternal CSF correlated well with plasma levels, and yielded a CSF:plasma ratio o...

journal_title：Annals of neurology

authors： Hammerstad JP,Woodward WR,Gliessman P,Boucher B,Nutt JG

更新日期：1990-05-01 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

authors： Sørensen PS,Gjerris F,Hammer M

更新日期：1984-05-01 00:00:00

abstract：:The fate of neurofilament (NF) proteins was examined in sections of nerves from rats that survived for 3 to 90 days following nerve transection, using anti-NF monoclonal antibodies and immunohistochemical techniques. The same methods were also applied to twenty-three human nerve biopsy specimens. Granular debris with ...

journal_title：Annals of neurology

authors： Trojanowski JQ,Lee VM,Schlaepfer WW

更新日期：1984-09-01 00:00:00

abstract：OBJECTIVE:The risk for symptomatic intracerebral hemorrhage (sICH) associated with thrombolytic treatment has not been evaluated in large studies using diffusion-weighted imaging (DWI). Here, we investigated the relation between pretreatment DWI lesion size and the risk for sICH after thrombolysis. METHODS:In this ret...

journal_title：Annals of neurology

authors： Singer OC,Humpich MC,Fiehler J,Albers GW,Lansberg MG,Kastrup A,Rovira A,Liebeskind DS,Gass A,Rosso C,Derex L,Kim JS,Neumann-Haefelin T,MR Stroke Study Group Investigators.

更新日期：2008-01-01 00:00:00

abstract：OBJECTIVE:Multiple sclerosis (MS) is characterized by demyelination centered around cerebral veins. Recent studies suggested this topographic pattern may be caused by venous congestion, a condition termed chronic cerebrospinal venous insufficiency (CCSVI). Published sonographic criteria of CCSVI include reflux in the d...

journal_title：Annals of neurology

authors： Doepp F,Paul F,Valdueza JM,Schmierer K,Schreiber SJ

更新日期：2010-08-01 00:00:00

abstract：OBJECTIVE:Osteopontin (OPN), a pleiotropic extracellular matrix glycoprotein, has been reported to be protective against ischemic lesions, but effects of OPN on vascular functions have not been investigated. The aim of this study was to assess whether recombinant OPN (r-OPN) could prevent cerebral vasospasm after subar...

journal_title：Annals of neurology

authors： Suzuki H,Hasegawa Y,Chen W,Kanamaru K,Zhang JH

更新日期：2010-11-01 00:00:00

abstract：:The etiopathogenesis of Parkinson's disease (PD) has been elusive. Recently, several lines of evidence have converged to suggest that defects in the ubiquitin-proteasome system and proteolytic stress underlie nigral pathology in both familial and sporadic forms of the illness. In support of this concept, mutations in ...

journal_title：Annals of neurology

authors： McNaught KS,Olanow CW

更新日期：2003-01-01 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：:Calcium/calmodulin-dependent serine protein kinase (CASK) belongs to the membrane-associated guanylate kinase protein family. The members of this protein family function as multiple domain adaptor proteins originally identified at cell junctions and synapses. Insertional mutations or targeted disruption of the CASK ge...

journal_title：Annals of neurology

authors： Hsueh YP

更新日期：2009-10-01 00:00:00

abstract：:We sought to determine whether medullary serotonergic neurons were affected in multiple system atrophy (MSA). Immunostaining for tryptophan hydroxylase was performed on serial 50 microm sections of the medulla of brains obtained at autopsy from six control subjects, eight subjects with clinical diagnosis of MSA, and f...

journal_title：Annals of neurology

authors： Benarroch EE,Schmeichel AM,Low PA,Parisi JE

更新日期：2004-03-01 00:00:00

abstract：:Cognitive and extrapyramidal effects of cholinomimetic therapy were evaluated in 8 patients with progressive supranuclear palsy. Each was randomized to a 10-day double-blind crossover trial of physostigmine and placebo. Physostigmine treatment was associated with marginal and inconsistent changes in long-term memory, ...

journal_title：Annals of neurology

authors： Litvan I,Gomez C,Atack JR,Gillespie M,Kask AM,Mouradian MM,Chase TN

更新日期：1989-09-01 00:00:00

abstract：:In view of the favorable claims of Cook and others, an open trial of chronic dorsal column stimulation was undertaken in 9 patients who had moderately advanced multiple sclerosis (MS) but were still ambulatory. No objective improvement was noted by either author during the postoperative observation period of 6 to 37 m...

journal_title：Annals of neurology

authors： Rosen JA,Barsoum AH

更新日期：1979-07-01 00:00:00

abstract：:Ten patients developed a subacute lower motor neuron syndrome as a remote effect of Hodgkin's disease or other lymphoma. The illness usually followed a benign course independent of the activity of the underlying neoplasm. Seven of the patients improved spontaneously, and 3 became neurologically normal. Two patients di...

journal_title：Annals of neurology

authors： Schold SC,Cho ES,Somasundaram M,Posner JB

更新日期：1979-03-01 00:00:00

abstract：:Ultrasound scans of three newborn infants with cerebral ischemic lesions demonstrated on computed tomographic scan showed unexpected changes in echogenicity of brain parenchyma in addition to lateralized mass effect. Areas of increased echogenicity were present adjacent to regions of infarction identified on computed ...

journal_title：Annals of neurology

authors： Wilson-Davis SL,Lo W,Filly RA

更新日期：1983-08-01 00:00:00

abstract：:Amphiphysin-IgG was identified in 71 patients among 120,000 evaluated serologically for paraneoplastic autoantibodies. Clinical information was available for 63 patients. Cancer was detected in 50 (mostly limited), proven histologically in 46, and was imaged intrathoracically in 4 patients (lung, small-cell [27] and n...

journal_title：Annals of neurology

authors： Pittock SJ,Lucchinetti CF,Parisi JE,Benarroch EE,Mokri B,Stephan CL,Kim KK,Kilimann MW,Lennon VA

更新日期：2005-07-01 00:00:00

abstract：OBJECTIVE:To understand the mechanisms of skeletal muscle destruction and resistance to enzyme replacement therapy in Pompe disease, a deficiency of lysosomal acid alpha-glucosidase (GAA), in which glycogen accumulates in lysosomes primarily in cardiac and skeletal muscles. METHODS:We have analyzed compartments of the...

journal_title：Annals of neurology

authors： Fukuda T,Ewan L,Bauer M,Mattaliano RJ,Zaal K,Ralston E,Plotz PH,Raben N

更新日期：2006-04-01 00:00:00

abstract：OBJECTIVE:The discovery of a posture-dependent effect on the difference between intraocular pressure (IOP) and intracranial pressure (ICP) at the level of lamina cribrosa could have important implications for understanding glaucoma and idiopathic intracranial hypertension and could help explain visual impairments in as...

journal_title：Annals of neurology

authors： Eklund A,Jóhannesson G,Johansson E,Holmlund P,Qvarlander S,Ambarki K,Wåhlin A,Koskinen LO,Malm J

更新日期：2016-08-01 00:00:00

abstract：:We examined binding to excitatory amino acid and inhibitory amino acid receptors in frozen hippocampal sections prepared from surgical specimens resected from 8 individuals with medically refractory temporal lobe epilepsy. The excitatory receptors studied included N-methyl-D-aspartate (NMDA), strychnine-insensitive gl...

journal_title：Annals of neurology

authors： McDonald JW,Garofalo EA,Hood T,Sackellares JC,Gilman S,McKeever PE,Troncoso JC,Johnston MV

更新日期：1991-05-01 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

authors： Nakamori M,Sobczak K,Puwanant A,Welle S,Eichinger K,Pandya S,Dekdebrun J,Heatwole CR,McDermott MP,Chen T,Cline M,Tawil R,Osborne RJ,Wheeler TM,Swanson MS,Moxley RT 3rd,Thornton CA

更新日期：2013-12-01 00:00:00

abstract：OBJECTIVE:Autosomal-dominant lateral temporal epilepsy (ADLTE) is a genetic focal epilepsy characterized by auditory symptoms. Two genes, LGI1 and RELN, encoding secreted proteins, are implicated in the etiology of ADLTE, but half of the affected families remain genetically unsolved, and the underlying molecular mechan...

journal_title：Annals of neurology

authors： Dazzo E,Rehberg K,Michelucci R,Passarelli D,Boniver C,Vianello Dri V,Striano P,Striano S,Pasterkamp RJ,Nobile C

更新日期：2018-03-01 00:00:00

abstract：:A 64-year-old man developed lethargy and aphasia immediately following cerebral arteriography with iothalamate meglumine. An electroencephalogram showed continuous epileptiform activity. The patient was treated with intravenous phenytoin with complete resolution of clinical symptoms and electroencephalographic epilept...

journal_title：Annals of neurology

authors： Vickrey BG,Bahls FH

更新日期：1989-02-01 00:00:00

abstract：:We describe a young child with tuberous sclerosis and cardiac rhabdomyoma who developed reversible heart block after being placed on carbamazepine treatment for seizures. Patients of any age with known or suspected intrinsic cardiac disease should be monitored for conduction disturbance if they are treated with carbam...

journal_title：Annals of neurology

authors： Weig SG,Pollack P

更新日期：1993-10-01 00:00:00

abstract：OBJECTIVE:Lymphocytic choriomeningitis virus (LCMV) is a human pathogen and an emerging neuroteratogen. When the infection occurs during pregnancy, the virus can target and damage the fetal brain and retina. We examined the spectrum of clinical presentations, neuroimaging findings, and clinical outcomes of children wit...

journal_title：Annals of neurology

authors： Bonthius DJ,Wright R,Tseng B,Barton L,Marco E,Karacay B,Larsen PD

更新日期：2007-10-01 00:00:00

abstract：OBJECTIVE:The aim was to demonstrate that antibodies from patients with anti-N-methyl-d-aspartate receptor (NMDAR) encephalitis alter the levels of dopamine 1 receptor (D1R) and dopamine 2 receptor (D2R) and cause psychotic-like features in mice. METHODS:Cultured rat hippocampal neurons were treated with cerebrospinal...

journal_title：Annals of neurology

authors： Carceles-Cordon M,Mannara F,Aguilar E,Castellanos A,Planagumà J,Dalmau J

更新日期：2020-09-01 00:00:00

abstract：:The mechanism by which iron enters the central nervous system from the blood is not well understood. Iron in blood plasma is totally bound to transferrin (Tf), a major plasma glycoprotein. Tf receptors are present on the blood-brain barrier (BBB) endothelium. It is not known whether iron separates from Tf during its p...

journal_title：Annals of neurology

authors： Roberts R,Sandra A,Siek GC,Lucas JJ,Fine RE

更新日期：1992-01-01 00:00:00

abstract：OBJECTIVE:To conduct complex segregation analyses of Parkinson's disease (PD). METHODS:Data on the familial aggregation of PD remain conflicting. We conducted a historical cohort study of 1,234 relatives of 162 patients with PD representative of people of Olmsted County, MN, and of 3,009 relatives of 411 patients with...

journal_title：Annals of neurology

authors： McDonnell SK,Schaid DJ,Elbaz A,Strain KJ,Bower JH,Ahlskog JE,Maraganore DM,Rocca WA

更新日期：2006-05-01 00:00:00

abstract：:Guillain-Barré syndrome (GBS) is an immune-mediated neuropathy, in which leukocytes and humoral components of the immune system proposedly initiate localized inflammation. An important pathogenic role for anti-GM1 ganglioside antibodies has been suggested. Therefore, we evaluated anti-GM1 IgG antibody-induced leukocyt...

journal_title：Annals of neurology

authors： van Sorge NM,van den Berg LH,Geleijns K,van Strijp JA,Jacobs BC,van Doorn PA,Wokke JH,van de Winkel JG,Leusen JH,van der Pol WL

更新日期：2003-05-01 00:00:00