Dysfunction of endocytic and autophagic pathways in a lysosomal storage disease.

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：:We examined spinal cords, nerve roots, or peripheral nerves of 27 patients who died with acquired immunodeficiency syndrome (AIDS) for the presence of cytomegalovirus (CMV) and human immunodeficiency virus (HIV) by immunoperoxidase techniques in paraffin-embedded tissue. Vacuolar myelopathy was seen in 8 of 26 spinal ...

journal_title：Annals of neurology

authors： Grafe MR,Wiley CA

更新日期：1989-06-01 00:00:00

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) g...

journal_title：Annals of neurology

authors： 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 T

更新日期：1997-02-01 00:00:00

abstract：:To determine the influence of chronic ethanol intake on the central nervous system, we studied 40 asymptomatic, well-nourished, chronic alcoholics (mean age, 42.6 +/- 9.1 years) and 20 age-, sex-, and education-matched control subjects. Studies included neuropsychological testing, visual and short-latency auditory evo...

journal_title：Annals of neurology

authors： Nicolás JM,Estruch R,Salamero M,Orteu N,Fernandez-Solà J,Sacanella E,Urbano-Márquez A

更新日期：1997-05-01 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：:The current functional model of the basal ganglia suggests that dyskinesia results from abnormally low activity at the output of the system. This view appears incomplete. The recent literature suggests other factors. Thus, dyskinesia may result from disturbance of surround inhibition: a physiologic mechanism to select...

journal_title：Annals of neurology

authors： Filion M

更新日期：2000-04-01 00:00:00

abstract：:A series of nine related aromatic monocarboxylic acids (ACAs) previously shown to inhibit muscle membrane chloride conductance (GCl) selectively in the rat were studied for their ability to produce myotonia. All nine induced characteristic repetitive electrical activity and delayed relaxation in isolated muscle, altho...

journal_title：Annals of neurology

authors： Furman RE,Barchi RL

更新日期：1978-10-01 00:00:00

abstract：:Stereotaxic injection of kainic acid into rat striatum produces neuronal degeneration and neurochemical alterations resembling Huntington's disease (HD). Since correction of the deficiency in gamma-aminobutyric acid (GABA) in HD may be of therapeutic value, the efficacy of drugs that inhibit the GABA-degrading enzyme ...

journal_title：Annals of neurology

authors： Schwarcz R,Bennett JP Jr,Coyle JT

更新日期：1977-10-01 00:00:00

abstract：OBJECTIVE:Acquired epilepsy is a devastating long-term risk of various brain insults, including trauma, stroke, infections, and status epilepticus (SE). There is no preventive treatment for patients at risk. Attributable to the complex alterations involved in epileptogenesis, it is likely that multitargeted approaches ...

journal_title：Annals of neurology

authors： Bar-Klein G,Klee R,Brandt C,Bankstahl M,Bascuñana P,Töllner K,Dalipaj H,Bankstahl JP,Friedman A,Löscher W

更新日期：2016-12-01 00:00:00

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

authors： Averback P

更新日期：1977-10-01 00:00:00

abstract：:Nineteen patients aged 4 to 44 years with generalized epilepsy and generalized 3 Hz spike-and-wave activity, were monitored for 24 or 36 hours on one to nine occasions to determine the time distribution of ictal and interictal electroencephalographic discharges and the consistency of the time patterns observed. Two pa...

journal_title：Annals of neurology

authors： Kellaway P,Frost JD Jr,Crawley JW

更新日期：1980-11-01 00:00:00

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：:Dopa-responsive dystonia (DRD) is one form of childhood-onset idiopathic torsion dystonia. Adult-onset parkinsonism has appeared in several previously unaffected members in families with DRD suggesting that this may be an additional phenotypical expression of the disease. We report a family with DRD in which 2 women a...

journal_title：Annals of neurology

authors： Nygaard TG,Takahashi H,Heiman GA,Snow BJ,Fahn S,Calne DB

更新日期：1992-11-01 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

authors： Watson RT,Miller BD,Heilman KM

更新日期：1978-06-01 00:00:00

abstract：:In cases of Alzheimer's presenile and senile dementia, Alzheimer's disease (AD) and senile dementia of the Alzheimer type (SDAT), respectively, we have observed, in addition to the gray matter degeneration, a lesion that has the character of an incomplete infarction confined to the white matter. It is encountered in 6...

journal_title：Annals of neurology

authors： Brun A,Englund E

更新日期：1986-03-01 00:00:00

abstract：:Basis pontis lacunes cause contralateral but rarely ipsilateral ataxia. We explored this phenomenon with isotope tract tracing in the rhesus monkey. Labeled pontocerebellar fibers cross midline and disperse widely in the opposite hemipons before coalescing in the brachium pontis. This anatomical arrangement suggests t...

journal_title：Annals of neurology

authors： Schmahmann JD,Rosene DL,Pandya DN

更新日期：2004-04-01 00:00:00

abstract：:The past decade has seen advances in the management of patients with epilepsy. The development of practical long-term electroencephalographic techniques, with or without simultaneous video recording, has increased the accuracy of diagnosis of seizure types. The technique also provides clinicians and investigators with...

journal_title：Annals of neurology

authors： So EL,Penry JK

更新日期：1981-01-01 00:00:00

abstract：:Based on prior reports of free light chains of immunoglobulin G (IgG) in the cerebrospinal fluid (CSF) of patients with multiple sclerosis (MS), we quantitated free kappa and lambda chains and whole IgG concentrations using sensitive and specific radioimmunoassays (RIAs). The RIA for free kappa chains had a sensitivit...

journal_title：Annals of neurology

authors： Rudick RA,Pallant A,Bidlack JM,Herndon RM

更新日期：1986-07-01 00:00:00

abstract：:Recently, the mutation causing early-onset generalized torsion dystonia has been identified as a GAG deletion in the gene for an adenosine triphosphate-binding protein named torsinA. We describe a German family with 5 clinically affected individuals carrying this mutation. In at least 4 of the 5 patients, the disease ...

journal_title：Annals of neurology

authors： Gasser T,Windgassen K,Bereznai B,Kabus C,Ludolph AC

更新日期：1998-07-01 00:00:00

abstract：:Biallelic DNAJC12 mutations were described in children with hyperphenylalaninemia, neurodevelopmental delay, and dystonia. We identified DNAJC12 homozygous null variants (c.187A>T;p.K63* and c.79-2A>G;p.V27Wfs*14) in two kindreds with early-onset parkinsonism. Both probands had mild intellectual disability, mild nonpr...

journal_title：Annals of neurology

authors： Straniero L,Guella I,Cilia R,Parkkinen L,Rimoldi V,Young A,Asselta R,Soldà G,Sossi V,Stoessl AJ,Priori A,Nishioka K,Hattori N,Follett J,Rajput A,Blau N,Pezzoli G,Farrer MJ,Goldwurm S,Rajput AH,Duga S

更新日期：2017-10-01 00:00:00

abstract：:In diabetic nerves, the activation of the polyol pathway and a resulting decrease in Na(+)-K(+) ATPase activity lead to intra-axonal Na(+) accumulation and a smaller Na(+) gradient across the axolemma than normal. To investigate whether glycemic control is associated with acutely reversible changes in axonal excitabil...

journal_title：Annals of neurology

authors： Kitano Y,Kuwabara S,Misawa S,Ogawara K,Kanai K,Kikkawa Y,Yagui K,Hattori T

更新日期：2004-10-01 00:00:00

abstract：OBJECTIVE:Case series with (11)C-PK11195 and positron emission tomography (PET) in stroke patients suggest that activated microglia may be detected in remote brain regions with fiber tract connections to the lesion site as an indicator of poststroke neuroinflammation. However, the specificity of these imaging findings ...

journal_title：Annals of neurology

authors： Radlinska BA,Ghinani SA,Lyon P,Jolly D,Soucy JP,Minuk J,Schirrmacher R,Thiel A

更新日期：2009-12-01 00:00:00

abstract：:Gustatory sweating is an autonomic disorder that frequently occurs after parotid gland surgery. We investigated the action of intracutaneous injections of botulinum toxin (BTX) (1.0-2.0 mouse units/2.25-cm2 skin area) in 45 patients (mean age, 52 years) with gustatory sweating. The area of hyperhidrosis was determined...

journal_title：Annals of neurology

authors： Naumann M,Zellner M,Toyka KV,Reiners K

更新日期：1997-12-01 00:00:00

abstract：OBJECTIVE:Myasthenia gravis (MG), a neuromuscular disease mediated by anti-acetylcholine receptor (AChR) autoantibodies, is associated with thymic hyperplasia characterized by ectopic germinal centers that contain pathogenic antibody-producing B cells. Our thymic transcriptome study demonstrated increased expression of...

journal_title：Annals of neurology

authors： Berrih-Aknin S,Ruhlmann N,Bismuth J,Cizeron-Clairac G,Zelman E,Shachar I,Dartevelle P,de Rosbo NK,Le Panse R

更新日期：2009-10-01 00:00:00

abstract：:Twenty-six patients with late-stage Parkinson disease were given 0.4 to 15 mg of pergolide mesylate daily in addition to, or as replacement for, levodopa or bromocriptine therapy. Despite treatment with individually determined optimum doses of levodopa, bromocriptine, and anticholinergics, they had shown response fail...

journal_title：Annals of neurology

authors： Lang AE,Quinn N,Brincat S,Marsden CD,Parkes JD

更新日期：1982-09-01 00:00:00

abstract：OBJECTIVE:Mutations in the genes encoding the extracellular matrix protein collagen VI (ColVI) cause a spectrum of disorders with variable inheritance including Ullrich congenital muscular dystrophy, Bethlem myopathy, and intermediate phenotypes. We extensively characterized, at the clinical, cellular, and molecular le...

journal_title：Annals of neurology

authors： Briñas L,Richard P,Quijano-Roy S,Gartioux C,Ledeuil C,Lacène E,Makri S,Ferreiro A,Maugenre S,Topaloglu H,Haliloglu G,Pénisson-Besnier I,Jeannet PY,Merlini L,Navarro C,Toutain A,Chaigne D,Desguerre I,de Die-Smulders C

更新日期：2010-10-01 00:00:00

abstract：:For unknown reasons, placebos reduce seizures in clinical trials in many patients. It is also unclear why some drugs showing statistical superiority to placebo in one trial may fail to do so in another. Using Seizuretracker.com, a patient-centered database of 684,825 seizures, we simulated "placebo" and "drug" trials....

journal_title：Annals of neurology

authors： Goldenholz DM,Moss R,Scott J,Auh S,Theodore WH

更新日期：2015-09-01 00:00:00

abstract：:Using the technique of transcranial magnetic stimulation over the motor areas of cortex and recording electromyographic (EMG) responses from the first dorsal interosseous muscle, we measured the excitability of corticocortical inhibitory circuits at rest using a double pulse paradigm, in 11 patients with Parkinson's d...

journal_title：Annals of neurology

authors： Ridding MC,Inzelberg R,Rothwell JC

更新日期：1995-02-01 00:00:00

abstract：OBJECTIVE:Blunted tachycardia during hypotension is a characteristic feature of patients with autonomic failure, but the range has not been defined. This study reports the range of orthostatic heart rate (HR) changes in patients with autonomic failure caused by neurodegenerative synucleinopathies. METHODS:Patients eva...

journal_title：Annals of neurology

authors： Norcliffe-Kaufmann L,Kaufmann H,Palma JA,Shibao CA,Biaggioni I,Peltier AC,Singer W,Low PA,Goldstein DS,Gibbons CH,Freeman R,Robertson D,Autonomic Disorders Consortium.

更新日期：2018-03-01 00:00:00

abstract：OBJECTIVE:Degeneration of chronically demyelinated axons is a major cause of irreversible neurological decline in the human central nervous system disease, multiple sclerosis (MS). Although the molecular mechanisms responsible for this axonal degeneration remain to be elucidated, dysfunction of axonal Na+/K+ ATPase is ...

journal_title：Annals of neurology

authors： Young EA,Fowler CD,Kidd GJ,Chang A,Rudick R,Fisher E,Trapp BD

更新日期：2008-04-01 00:00:00