A mutant PSEN1 causes dementia with Lewy bodies and variant Alzheimer's disease.

abstract：:Thalamic degeneration was present in 5 autopsied cases of X-chromosome-linked copper malabsorption (X-cLCM), Menkes' kinky hair disease. Among the thalamic nuclei, those in the formatio paraventricularis, intralamellaris, and extralamellaris were spared. The nuclei projecting to the granular cortices had severe neuron...

journal_title：Annals of neurology

authors： Iwata M,Hirano A,French JH

更新日期：1979-04-01 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 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：:Electroencephalographic (EEG) and evoked potential data were recorded during behavioral testing from 8 dyslexic and 10 normal boys aged 9 to 11 years. Topographic mapping of their brain electrical activity revealed four discrete regions of difference between the two groups involving both hemispheres, left more than ri...

journal_title：Annals of neurology

authors： Duffy FH,Denckla MB,Bartels PH,Sandini G

更新日期：1980-05-01 00:00:00

abstract：OBJECTIVE:Our goal was to define the genetic cause of the profound hypomyelination in the taiep rat model and determine its relevance to human white matter disease. METHODS:Based on previous localization of the taiep mutation to rat chromosome 9, we tested whether the mutation resided within the Tubb4a (β-tubulin 4A) ...

journal_title：Annals of neurology

authors： Duncan ID,Bugiani M,Radcliff AB,Moran JJ,Lopez-Anido C,Duong P,August BK,Wolf NI,van der Knaap MS,Svaren J

更新日期：2017-05-01 00:00:00

abstract：:Although the carbonic anhydrase inhibitors have been used in the treatment of the primary periodic paralyses (PPs), their efficacy has not been demonstrated in double-blind, placebo-controlled trials. Therefore, we tested the efficacy of dichlorphenamide (DCP; Daranide), a potent carbonic anhydrase inhibitor, in the t...

journal_title：Annals of neurology

authors： Tawil R,McDermott MP,Brown R Jr,Shapiro BC,Ptacek LJ,McManis PG,Dalakas MC,Spector SA,Mendell JR,Hahn AF,Griggs RC

更新日期：2000-01-01 00:00:00

abstract：:Brains from male cases with dyslexia show symmetry of the planum temporale and predominantly left-sided cerebrocortical microdysgenesis. We now report on three women with dyslexia. In all brains, the planum temporale was again symmetrical. Also, in two of the brains, multiple foci of cerebrocortical glial scarring wer...

journal_title：Annals of neurology

authors： Humphreys P,Kaufmann WE,Galaburda AM

更新日期：1990-12-01 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：OBJECTIVE:To explore the prognostic implications of epilepsy duration and age at surgery for seizure outcomes after frontal lobe epilepsy (FLE) surgery. METHODS:We reviewed 158 patients who underwent FLE surgery from 1995 to 2010. The primary outcome was seizure freedom at last follow-up (Engel class IA). Analyses emp...

journal_title：Annals of neurology

authors： Simasathien T,Vadera S,Najm I,Gupta A,Bingaman W,Jehi L

更新日期：2013-05-01 00:00:00

abstract：:Noradrenergic fibers were identified in rat cervical lymph nodes by fluorescence histochemistry and confirmed by radioenzymatic determination of norepinephrine. After superior cervical ganglionectomy, lymph node norepinephrine and noradrenergic fluorescence were strikingly decreased. The alpha-adrenergic radioligand [...

journal_title：Annals of neurology

authors： Giron LT Jr,Crutcher KA,Davis JN

更新日期：1980-11-01 00:00:00

abstract：:Phosphorus magnetic resonance spectra of resting muscle were obtained from 4 patients with alternating hemiplegia of childhood. All patients had abnormally high resonance intensities from inorganic phosphate and an abnormally low calculated cytosolic phosphorylation potential. Two of the 4 patients had abnormally low ...

journal_title：Annals of neurology

authors： Arnold DL,Silver K,Andermann F

更新日期：1993-06-01 00:00:00

abstract：:The topography and magnitude of increase in peripheral type benzodiazepine binding sites (omega 3 sites) was investigated autoradiographically in the brains of patients with ischemic cerebrovascular disease, with multiple sclerosis, and with malignant glioma. 3H-PK 11195, a selective omega 3 site ligand, was employed....

journal_title：Annals of neurology

authors： Benavides J,Cornu P,Dennis T,Dubois A,Hauw JJ,MacKenzie ET,Sazdovitch V,Scatton B

更新日期：1988-12-01 00:00:00

abstract：:The detection of 14-3-3 protein by Western immunoblot is a sensitive and specific cerebrospinal fluid marker of Creutzfeldt-Jakob disease (CJD). We developed a quantitative enzyme-linked immunosorbent assay (ELISA) that reliably detects 14-3-3 in cerebrospinal fluid. In a prospective study of 147 cerebrospinal fluid s...

journal_title：Annals of neurology

authors： Kenney K,Brechtel C,Takahashi H,Kurohara K,Anderson P,Gibbs CJ Jr

更新日期：2000-09-01 00:00:00

abstract：:We studied neuronal activity and its relation to the accumulation of neurofibrillary tangles in Alzheimer's disease (AD) neurons by in situ hybridization to cytochrome oxidase subunit III messenger RNA, a marker of mitochondrial energy metabolism. In AD midtemporal cortex, levels of cytochrome oxidase subunit III mess...

journal_title：Annals of neurology

authors： Hatanpää K,Brady DR,Stoll J,Rapoport SI,Chandrasekaran K

更新日期：1996-09-01 00:00:00

abstract：:Progressive multifocal leukoencephalopathy (PML) complicating the acquired immunodeficiency syndrome (AIDS) is typically inexorably progressive with death usually occurring within 6 months of symptom onset. Occasional patients have been observed to survive longer than 1 year, often with remission of clinical features....

journal_title：Annals of neurology

authors： Berger JR,Levy RM,Flomenhoft D,Dobbs M

更新日期：1998-09-01 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：OBJECTIVE:GM2 gangliosidoses are lysosomal diseases due to biallelic mutations in the HEXA (Tay-Sachs disease [TS]) or HEXB (Sandhoff disease [SD]) genes, with subsequent low hexosaminidase(s) activity. Most patients have childhood onset, but some experience the first symptoms during adolescence/adulthood. This study a...

journal_title：Annals of neurology

authors： Masingue M,Dufour L,Lenglet T,Saleille L,Goizet C,Ayrignac X,Ory-Magne F,Barth M,Lamari F,Mandia D,Caillaud C,Nadjar Y

更新日期：2020-04-01 00:00:00

abstract：:Systems for automatic assessment of cutaneous touch-pressure, vibratory, and thermal sensation have been developed. These systems use stimuli which are quantified and reproducible, a two-alternative forced-choice technique, and programmed steps to test, score, and report. If normal responses from series of healthy per...

journal_title：Annals of neurology

authors： Dyck PJ,Zimmerman IR,O'Brien PC,Ness A,Caskey PE,Karnes J,Bushek W

更新日期：1978-12-01 00:00:00

abstract：OBJECTIVE:Recanalization of arterial obstruction is associated with improved clinical outcomes. There are no controlled data demonstrating whether arterial obstruction status predicts the treatment effect of intravenous (IV) tissue plasminogen activator (tPA). We aimed to determine if the presence of arterial obstructi...

journal_title：Annals of neurology

authors： De Silva DA,Churilov L,Olivot JM,Christensen S,Lansberg MG,Mlynash M,Campbell BC,Desmond P,Straka M,Bammer R,Albers GW,Davis SM,Donnan GA,EPITHET-DEFUSE Investigators.

更新日期：2011-10-01 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：:Unilateral lesions of the occipital visual areas performed on postnatal day 5 (P5) in the ferret are not compensated by the appearance, in the lesioned hemisphere, of visual responses at ectopic locations. Instead, when parts of the visual areas are spared, they show abnormal retinotopic organizations; furthermore, ca...

journal_title：Annals of neurology

authors： Restrepo CE,Manger PR,Spenger C,Innocenti GM

更新日期：2003-07-01 00:00:00

abstract：:Free and bound levels of anti-myelin basic protein (anti-MBP) antibodies were measured by radioimmunoassay in the cerebrospinal fluid of 20 patients with acute idiopathic optic neuritis, 133 patients with multiple sclerosis (MS) divided into three clinical subgroups, and 76 normal control subjects. Patients with idiop...

journal_title：Annals of neurology

authors： Warren KG,Catz I,Bauer C

更新日期：1988-03-01 00:00:00

abstract：:Between 36 and 44 weeks after conception, telencephalic white matter in the newborn appears to be particularly vulnerable to insults that result in morphological disturbances. Available evidence indicates that this disorder (or group of disorders), named acquired perinatal leukoencephalopathy, reflects a decrease in b...

journal_title：Annals of neurology

authors： Leviton A,Gilles FH

更新日期：1984-07-01 00:00:00

abstract：:Temporal lobe seizures are frequently associated with a characteristic pattern of hippocampal pathology (hippocampal sclerosis), as well as pathology in other temporal lobe structures. Despite more than a century of study, the relationship between pathology and epileptogenesis remains unclear. Endfolium sclerosis, whi...

journal_title：Annals of neurology

authors： Sloviter RS

更新日期：1994-06-01 00:00:00

abstract：:A recent controlled clinical trial suggested a role for amantadine as a treatment for pathological gambling in patients with Parkinson disease (PD). Analyzing data from a large cross-sectional study of impulse control disorders (ICDs) in PD, amantadine use (n = 728), vs no amantadine use (n = 2,357), was positively as...

journal_title：Annals of neurology

authors： Weintraub D,Sohr M,Potenza MN,Siderowf AD,Stacy M,Voon V,Whetteckey J,Wunderlich GR,Lang AE

更新日期：2010-12-01 00:00:00

abstract：OBJECTIVE:Transient high-frequency oscillations (HFOs; 150-600Hz) in local field potentials generated by human hippocampal and parahippocampal areas have been related to both physiological and pathological processes. The cellular basis and effects of normal and abnormal forms of HFOs have been controversial. This lack ...

journal_title：Annals of neurology

authors： Alvarado-Rojas C,Huberfeld G,Baulac M,Clemenceau S,Charpier S,Miles R,de la Prida LM,Le Van Quyen M

更新日期：2015-02-01 00:00:00

abstract：:The cervical nerves may play a significant role in primary headache disorders. We reviewed the patterns of pain evoked by stimulation of the first 3 cervical nerves (C1-C3) in 10 patients with chronic occipital pain, 6 of whom also had migraine. Stimulation at the C1 level evoked periorbital and frontal pain in 6 of 6...

journal_title：Annals of neurology

authors： Johnston MM,Jordan SE,Charles AC

更新日期：2013-07-01 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：:The etiology of neurodegenerative diseases remains enigmatic; however, evidence for defects in energy metabolism, excitotoxicity, and for oxidative damage is increasingly compelling. It is likely that there is a complex interplay between these mechanisms. A defect in energy metabolism may lead to neuronal depolarizati...

journal_title：Annals of neurology

authors： Beal MF

更新日期：1995-09-01 00:00:00

abstract：OBJECTIVE:Mounting evidence links neurodegenerative disorders such as Parkinson disease and Alzheimer disease with mitochondrial dysfunction, and recent emphasis has focused on mitochondrial dynamics and quality control. Mitochondrial dynamics and mtDNA maintenance is another link recently emerged, implicating mutation...

journal_title：Annals of neurology

authors： Carelli V,Musumeci O,Caporali L,Zanna C,La Morgia C,Del Dotto V,Porcelli AM,Rugolo M,Valentino ML,Iommarini L,Maresca A,Barboni P,Carbonelli M,Trombetta C,Valente EM,Patergnani S,Giorgi C,Pinton P,Rizzo G,Tonon C,

更新日期：2015-07-01 00:00:00