Kearns-Sayre syndrome with reduced plasma and cerebrospinal fluid folate.

abstract：OBJECTIVE:Fast oscillations (FOs) were first explored from scalp electroencephalographic (EEG) data from hypsarrhythmia in West syndrome (infantile spasms) to investigate the meaning of FOs in this epileptic encephalopathy. METHODS:In 17 infants with West syndrome, we conservatively detected fast frequency peaks that ...

journal_title：Annals of neurology

authors： Kobayashi K,Akiyama T,Oka M,Endoh F,Yoshinaga H

更新日期：2015-01-01 00:00:00

abstract：:Adult polyglucosan body disease (APBD) is a late-onset, slowly progressive disorder of the nervous system caused by glycogen branching enzyme (GBE) deficiency in a subgroup of patients of Ashkenazi Jewish origin. Similar biochemical finding is shared by glycogen storage disease type IV (GSD IV) that, in contrast to AP...

journal_title：Annals of neurology

authors： Lossos A,Meiner Z,Barash V,Soffer D,Schlesinger I,Abramsky O,Argov Z,Shpitzen S,Meiner V

更新日期：1998-12-01 00:00:00

abstract：:Tropical spastic paraparesis (TSP) is a common myeloneuropathy with primary and predominant involvement of the pyramidal tract and minimal sensory loss. The epidemic form of TSP is related to toxic nutritional factors, but the endemic form occurs in clusters in tropical areas, especially in India, Africa, the Seychell...

journal_title：Annals of neurology

authors： Vernant JC,Maurs L,Gessain A,Barin F,Gout O,Delaporte JM,Sanhadji K,Buisson G,de-Thé G

更新日期：1987-02-01 00:00:00

abstract：:Most clinically demented elderly patients are found at autopsy to have Alzheimer's disease, multi-infarct dementia, Parkinson's disease, Pick's disease, or Creutzfeldt-Jakob disease. We studied 5 patients clinically characterized by late onset dementia whose brains showed no pathological evidence of Alzheimer's diseas...

journal_title：Annals of neurology

authors： Masliah E,Hansen LA,Quijada S,DeTeresa R,Alford M,Kauss J,Terry R

更新日期：1991-04-01 00:00:00

abstract：:Recent neuroepidemiological studies of endemic tropical spastic paraparesis (TSP) have confirmed the existence of high-prevalence foci in several tropical islands, including Jamaica and Martinique in the Caribbean, Tumaco off the Pacific coast of Colombia, and the Seychelles in the Indian Ocean. There is a net prepond...

journal_title：Annals of neurology

authors： Román GC

更新日期：1988-01-01 00:00:00

abstract：:The serum and cerebrospinal fluid (CSF) of 8 women with ataxia, 6 of whom also had eye movement abnormalities believed to be opsoclonus, were found to contain a highly specific antineuronal antibody we call anti-Ri. Seven of the 8 women also had or developed cancer: carcinoma of the breast in 5, adenocarcinoma in an a...

journal_title：Annals of neurology

authors： Luque FA,Furneaux HM,Ferziger R,Rosenblum MK,Wray SH,Schold SC Jr,Glantz MJ,Jaeckle KA,Biran H,Lesser M

更新日期：1991-03-01 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：:beta-Dystroglycan, a 43-kd transmembrane dystrophin-associated glycoprotein, plays an important role in linking dystrophin to the laminin-binding alpha-dystroglycan. alpha-/beta-Dystroglycan is encoded by a single gene on chromosome 3p21 and ubiquitously expressed in muscle and nonmuscle tissues. No known human diseas...

journal_title：Annals of neurology

authors： Salih MA,Sunada Y,Al-Nasser M,Ozo CO,Al-Turaiki MH,Akbar M,Campbell KP

更新日期：1996-12-01 00:00:00

abstract：:This study reports a case of type VII mucopolysaccharidosis (beta-glucuronidase deficiency) presenting as lethal hydrops fetalis. Skin fibroblast cultures established postmortem revealed deficient beta-glucuronidase activity. Mucopolysaccharides were stored in various cells of the brain, heart, kidney, liver, and sple...

journal_title：Annals of neurology

authors： Irani D,Kim HS,El-Hibri H,Dutton RV,Beaudet A,Armstrong D

更新日期：1983-10-01 00:00:00

abstract：:Central motor conduction times for the adductor pollicis muscle, the twitch force of that muscle to scalp magnetic motor cortex stimulation, and the maximum force of phasic voluntary contraction of the same muscle were measured in 15 patients with multiple sclerosis. Two tests of manual dexterity of the same hand also...

journal_title：Annals of neurology

authors： van der Kamp W,Maertens de Noordhout A,Thompson PD,Rothwell JC,Day BL,Marsden CD

更新日期：1991-01-01 00:00:00

abstract：:Four guanidino compounds that have been found to be markedly increased in cerebrospinal fluid and brain tissue of uremic patients, namely, guanidine, methylguanidine, creatinine, and guanidinosuccinic acid, were applied to mouse spinal cord neurons in primary dissociated cell culture to evaluate their effects on posts...

journal_title：Annals of neurology

authors： De Deyn PP,Macdonald RL

更新日期：1990-11-01 00:00:00

abstract：:The frequency with which patients presenting with acute or chronic noncompressive cord syndromes subsequently develop multiple sclerosis is uncertain. Magnetic resonance imaging (MRI) was performed on 121 patients with such syndromes to determine the frequency of asymptomatic brain lesions and to assess the sensitivit...

journal_title：Annals of neurology

authors： Miller DH,McDonald WI,Blumhardt LD,du Boulay GH,Halliday AM,Johnson G,Kendall BE,Kingsley DP,MacManus DG,Moseley IF

更新日期：1987-12-01 00:00:00

abstract：:We recently reported that systemic administration of a proteasome inhibitor induced a progressive levodopa-responsive, bradykinetic syndrome in rats with imaging, pathological, and biochemical features that strikingly resemble what is found in PD. This model has the potential to be a useful tool for studying the mecha...

journal_title：Annals of neurology

authors： McNaught KS,Olanow CW

更新日期：2006-08-01 00:00:00

abstract：:The Pilot Stroke Data Bank obtained information on 94 patients with intracerebral hemorrhage. These data were used to identify factors predictive of 30-day outcome from among 85 demographic, historical, clinical, and laboratory variables generally available to clinicians on the day of admission. The 9 univariate facto...

journal_title：Annals of neurology

authors： Tuhrim S,Dambrosia JM,Price TR,Mohr JP,Wolf PA,Heyman A,Kase CS

更新日期：1988-08-01 00:00:00

abstract：:The effects on cerebral hemodynamics of venisection and a 4% albumin-saline infusion were studied in six patients with high hematocrit (mean, 51.5%). Cerebral blood flow (CBF) was measured using the xenon 133 intracarotid injection method. Blood gases were measured in arterial and jugular venous blood. Rapid two-stage...

journal_title：Annals of neurology

authors： Henriksen L,Paulson OB,Smith RJ

更新日期：1981-05-01 00:00:00

abstract：:We reviewed the records of 160 consecutive patients with glioblastoma and anaplastic astrocytoma to evaluate the long-term consequences of radiation therapy and chemotherapy. We defined long-term survivors as those patients with glioblastoma or anaplastic astrocytoma who lived at least 100% longer than median survival...

journal_title：Annals of neurology

authors： Imperato JP,Paleologos NA,Vick NA

更新日期：1990-12-01 00:00:00

abstract：OBJECTIVE:Neuronal loss, a key substrate of irreversible disability in multiple sclerosis (MS), is a recognized feature of MS cortical pathology of which the cause remains unknown. Fibrin(ogen) deposition is neurotoxic in animal models of MS, but has not been evaluated in human progressive MS cortex. The aim of this st...

journal_title：Annals of neurology

authors： Yates RL,Esiri MM,Palace J,Jacobs B,Perera R,DeLuca GC

更新日期：2017-08-01 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：:Various C-terminally truncated amyloid beta peptides (Abeta) are linked to Alzheimer's disease (AD) pathogenesis. Cerebrospinal fluid (CSF) concentrations of Abeta38, Abeta40, and Abeta42 were measured by enzyme-linked immunosorbent assay in 30 patients with AD and 26 control subjects. CSF Abeta42 levels was decreased...

journal_title：Annals of neurology

authors： Schoonenboom NS,Mulder C,Van Kamp GJ,Mehta SP,Scheltens P,Blankenstein MA,Mehta PD

更新日期：2005-07-01 00:00:00

abstract：:Although Alzheimer's and Parkinson's diseases predominately affect elderly adults, the proteins that play a role in the pathogenesis of these diseases are expressed throughout life. In fact, many of the proteins hypothesized to be important in the progression of neurodegeneration play direct or indirect roles in the d...

journal_title：Annals of neurology

authors： Rogers D,Schor NF

更新日期：2010-02-01 00:00:00

abstract：:Multiple sclerosis (MS) is characterized by patchy accumulations of inflammatory cells combined with demyelination. There are mononuclear cells in blood and cerebrospinal fluid of patients with MS that produce interferon-gamma and interleukin-4 in response to myelin basic protein (MBP) and proteolipid protein (PLP). H...

journal_title：Annals of neurology

authors： Link J,Fredrikson S,Söderström M,Olsson T,Höjeberg B,Ljungdahl A,Link H

更新日期：1994-02-01 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：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

authors： Bang OY,Buck BH,Saver JL,Alger JR,Yoon SR,Starkman S,Ovbiagele B,Kim D,Ali LK,Sanossian N,Jahan R,Duckwiler GR,Viñuela F,Salamon N,Villablanca JP,Liebeskind DS

更新日期：2007-08-01 00:00:00

abstract：:We describe a new cause of spinal cord ischemia illustrated by two cases--compression by the diaphragmatic crus of a lumbar artery giving rise to a spinal artery. The diagnosis has been established by dynamic spinal angiography, showing complete occlusion of the lumbar artery. Surgical section of the diaphragmatic cru...

journal_title：Annals of neurology

authors： Rogopoulos A,Benchimol D,Paquis P,Mahagne MH,Bourgeon A

更新日期：2000-08-01 00:00:00

abstract：:The pharmacological responses of vascular adrenergic receptors to intravenously administered epinephrine, phentolamine, and propranolol were assessed by measuring muscle blood flow (MBF) changes in the tibialis anterior muscle using the xenon 133 clearance technique and were compared in 8 normal subjects and 11 patien...

journal_title：Annals of neurology

authors： Mechler F,Mastaglia FL

更新日期：1981-02-01 00:00:00

abstract：:Autopsy examination confirmed the diagnosis of subacute necrotizing encephalomyelopathy (SNE) in a 7-month-old male infant who underwent several metabolic studies before death. Intermittent lactic acidemia and fumaric aciduria, an extreme hyperglycemic response to an intravenous bolus of alanine, and an elevated total...

journal_title：Annals of neurology

authors： DeVivo DC,Haymond MW,Obert KA,Nelson JS,Pagliara AS

更新日期：1979-12-01 00:00:00

abstract：:Patients with Hodgkin's disease can develop paraneoplastic cerebellar ataxia because of the generation of autoantibodies against mGluR1 (mGluR1-Abs). Yet, the pathophysiological mechanisms underlying their motor coordination deficits remain to be elucidated. Here, we show that application of IgG purified from the pati...

journal_title：Annals of neurology

authors： Coesmans M,Smitt PA,Linden DJ,Shigemoto R,Hirano T,Yamakawa Y,van Alphen AM,Luo C,van der Geest JN,Kros JM,Gaillard CA,Frens MA,de Zeeuw CI

更新日期：2003-03-01 00:00:00

abstract：OBJECTIVE:Paroxysmal hemicrania (PH) is a severe, strictly unilateral headache that lasts 2 to 30 minutes, occurs more than five times daily, is associated with trigeminal autonomic symptoms, and is exquisitely responsive to indomethacin. The purpose of the study was to determine the brain structures active in PH. MET...

journal_title：Annals of neurology

authors： Matharu MS,Cohen AS,Frackowiak RS,Goadsby PJ

更新日期：2006-03-01 00:00:00

abstract：OBJECTIVE:To examine changes in the response properties of meningeal nociceptors that might lead to migraine pain and examine endogenous processes that could play a role in mediating them using a clinically relevant model of migraine triggering, namely infusion of the nitric oxide (NO) donor nitroglycerin (NTG). METHO...

journal_title：Annals of neurology

authors： Zhang X,Kainz V,Zhao J,Strassman AM,Levy D

更新日期：2013-06-01 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

authors： Guttman M,Seeman P,Reynolds GP,Riederer P,Jellinger K,Tourtellotte WW

更新日期：1986-05-01 00:00:00