Novel missense mutations in the glycogen-branching enzyme gene in adult polyglucosan body disease.

abstract：OBJECTIVE:To analyze the cumulative efficacy and safety of everolimus in treating subependymal giant cell astrocytomas (SEGA) associated with tuberous sclerosis complex (TSC) from an open-label phase II study (NCT00411619). Updated data became available from the conclusion of the extension phase and are presented in th...

journal_title：Annals of neurology

authors： Franz DN,Agricola K,Mays M,Tudor C,Care MM,Holland-Bouley K,Berkowitz N,Miao S,Peyrard S,Krueger DA

更新日期：2015-12-01 00:00:00

abstract：:An X-linked recessive disease with, in almost all patients, a fatal course in early childhood, occurring in a five-generation family is described. The 12 affected boys had early-onset floppiness, ataxia, liability to infections especially of the upper respiratory tract, deafness, and later, a flaccid tetraplegia and a...

journal_title：Annals of neurology

authors： Arts WF,Loonen MC,Sengers RC,Slooff JL

更新日期：1993-05-01 00:00:00

abstract：:Hemophilus influenzae is the most common cause of bacterial meningitis in children, and a high percentage of survivors are at risk for long-term sequelae. To explore the mechanisms responsible for these sequelae, a neonatal rat model was used to define the behavioral, electrophysiological, and biochemical changes foll...

journal_title：Annals of neurology

authors： Konkol RJ,Chapman L,Breese GR,Collier AM,Kilts C,Finley C,Vogel RR,Mailman RB,Bendeich EG

更新日期：1987-04-01 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：:Effective surgical treatment of patients with intractable complex partial seizures depends on accurate preoperative seizure focus localization. We evaluated seizure localization with interictal and immediate postictal single photon emission computed tomographic images of cerebral perfusion using technetium-99m-hexamet...

journal_title：Annals of neurology

authors： Rowe CC,Berkovic SF,Sia ST,Austin M,McKay WJ,Kalnins RM,Bladin PF

更新日期：1989-11-01 00:00:00

abstract：:We report on a new allele at the arylsulfatase A (ARSA) locus causing late-onset metachromatic leukodystrophy (MLD). In that allele arginine84, a residue that is highly conserved in the arylsulfatase gene family, is replaced by glutamine. In contrast to alleles that cause early-onset MLD, the arginine84 to glutamine s...

journal_title：Annals of neurology

authors： Kappler J,von Figura K,Gieselmann V

更新日期：1992-03-01 00:00:00

abstract：:Because the symptomatic treatments for multiple sclerosis (MS) are limited, new approaches have been sought. Anatomical studies of MS lesions show a relative preservation of axons, and clinical studies suggest that some of the neurological impairment in patients with MS is physiological. Electrophysiological studies s...

journal_title：Annals of neurology

authors： Bever CT Jr

更新日期：1994-01-01 00:00:00

abstract：:Isolated vertigo with horizontal positional nystagmus as an impending sign of a central lesion has rarely been reported. Here we present neuro-otologic findings of patients with these clinical signs. Lesion overlays from 6 patients with ageotropic positional nystagmus revealed that the nodulus and vermis are common ar...

journal_title：Annals of neurology

authors： Lee HJ,Kim ES,Kim M,Chu H,Ma HI,Lee JS,Koo JW,Kim HJ,Hong SK

更新日期：2014-12-01 00:00:00

abstract：OBJECTIVE:Epilepsy is a common neurological disorder characterized by recurrent seizures often unresponsive to pharmacological treatment. Brain inflammation is considered a crucial etiopathogenetic mechanism of epilepsy that could be targeted to control seizures. Specific inflammatory mediators overexpressed in human e...

journal_title：Annals of neurology

authors： Librizzi L,Noè F,Vezzani A,de Curtis M,Ravizza T

更新日期：2012-07-01 00:00:00

abstract：:It has been proposed that early-onset familial Alzheimer's disease (FAD) and sporadic Alzheimer's disease (AD) have different causes, with FAD due to a single dominant gene with disease onset before the sixth decade, whereas sporadic AD has a later onset and is not associated with a dominant pattern of inheritance. Gi...

journal_title：Annals of neurology

authors： Swearer JM,O'Donnell BF,Drachman DA,Woodward BM

更新日期：1992-11-01 00:00:00

abstract：:A family with Gerstmann-Sträussler-Scheinker disease had coincidental clinical onset in three members of two generations, a phenomenon suggesting a common source of a transmissible agent. A regular dietary supplement in this family was home-bred rabbit. The clinical picture, although generally similar to that in previ...

journal_title：Annals of neurology

authors： Hudson AJ,Farrell MA,Kalnins R,Kaufmann JC

更新日期：1983-12-01 00:00:00

abstract：OBJECTIVE:The objective of this study was to investigate the role of CD8+ CD25+ FoxP3+ cells during the course of multiple sclerosis (MS). METHODS:Peripheral blood and cerebrospinal fluid (CSF) CD8+ T-cell clones (TCCs) recognizing autoreactive CD4+ T cells were isolated from 20 MS patients during exacerbations, 15 pa...

journal_title：Annals of neurology

authors： Correale J,Villa A

更新日期：2010-05-01 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：OBJECTIVE:The Epi4K Consortium recently identified 4 de novo mutations in the γ-aminobutyric acid type A (GABAA ) receptor β3 subunit gene GABRB3 and 1 in the β1 subunit gene GABRB1 in children with one of the epileptic encephalopathies (EEs) Lennox-Gastaut syndrome (LGS) and infantile spasms (IS). Because the etiology...

journal_title：Annals of neurology

authors： Janve VS,Hernandez CC,Verdier KM,Hu N,Macdonald RL

更新日期：2016-05-01 00:00:00

abstract：OBJECTIVE:Ischemic injury of axons is a feature of periventricular leukomalacia, a pathological correlate of cerebral palsy. Recent evidence suggests that axons are damaged before they receive the first layer of compact myelin. Here we examine the cellular mechanisms underlying ischemic-type injury of premyelinated cen...

journal_title：Annals of neurology

authors： Alix JJ,Fern R

更新日期：2009-11-01 00:00:00

abstract：:We describe the cases of eight patients with chronic idiopathic anhidrosis. These patients were heat intolerant and became hot, flushed, dizzy, dyspneic, and weak but did not sweat when the ambient temperature was high or when they exercised. Four patients had preganglionic sudomotor lesions and in the remaining 4 the...

journal_title：Annals of neurology

authors： Low PA,Fealey RD,Sheps SG,Su WP,Trautmann JC,Kuntz NL

更新日期：1985-09-01 00:00:00

abstract：:The tyrosine kinase receptor RON and its ligand, macrophage stimulating protein (MSP), exert inhibitory effects on systemic innate immunity, but their CNS expression and impact on human neuroinflammatory diseases are unknown were RON and MSP present in human brain perivascular macrophages and microglia, but RON mRNA a...

journal_title：Annals of neurology

authors： Tsutsui S,Noorbakhsh F,Sullivan A,Henderson AJ,Warren K,Toney-Earley K,Waltz SE,Power C

更新日期：2005-06-01 00:00:00

abstract：:We report thirty-three patients with alternating skew deviation on lateral gaze. The right eye was hypertropic in right gaze, and the left eye was hypertropic in left gaze. Most patients had associated downbeat nystagmus and ataxia and were diagnosed as having lesions of the cerebellar pathways or the cervicomedullary...

journal_title：Annals of neurology

authors： Moster ML,Schatz NJ,Savino PJ,Benes S,Bosley TM,Sergott RC

更新日期：1988-02-01 00:00:00

abstract：:A 13-year-old boy with imipramine overdose developed seizures, respiratory arrest, and coma. Abnormalities of oculovestibular reflexes, electroencephalograms, and brainstem auditory evoked potentials were monitored in relation to measurements of drug levels. An alpha-coma electroencephalographic pattern evolved into o...

journal_title：Annals of neurology

authors： Pulst SM,Lombroso CT

更新日期：1983-11-01 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：:The hypothalamus was systematically examined in 30 patients with pathologically documented idiopathic parkinsonism. Using Lewy body formation as a marker for nerve cell degeneration, we observed abnormalities in every hypothalamus examined. Of the thirteen hypothalamic nuclei that could be individually identified, non...

journal_title：Annals of neurology

authors： Langston JW,Forno LS

更新日期：1978-02-01 00:00:00

abstract：OBJECTIVE:A number of hypotheses have been put forward as to why humans respond to fever by seizing. The current leading hypotheses are that respiratory alkalosis produces an as yet unidentified change in neural excitability or that inflammatory mediators potentiate excitatory synaptic transmission. However, it is well...

journal_title：Annals of neurology

authors： Thomas EA,Hawkins RJ,Richards KL,Xu R,Gazina EV,Petrou S

更新日期：2009-08-01 00:00:00

abstract：:To identify those factors associated with cerebral hemorrhage among brains with cerebral amyloid angiopathy (CAA), we undertook a comparative postmortem histopathological study of amyloid-containing vessels in the brains of patients with and without hemorrhage. Those without hemorrhage were represented by the followin...

journal_title：Annals of neurology

authors： Vonsattel JP,Myers RH,Hedley-Whyte ET,Ropper AH,Bird ED,Richardson EP Jr

更新日期：1991-11-01 00:00:00

abstract：:The post-poliomyelitis syndrome (PPS) refers to symptoms of new weakness, fatigue, and pain years after recovery from acute poliomyelitis. Oligoclonal IgG bands have been reported in the cerebrospinal fluid (CSF) from PPS patients, suggesting that the syndrome is immune mediated or caused by persistent viral infection...

journal_title：Annals of neurology

authors： Salazar-Grueso EF,Grimaldi LM,Roos RP,Variakojis R,Jubelt B,Cashman NR

更新日期：1989-12-01 00:00:00

abstract：:Striatal 18F-6-fluorodopa (FD) uptake constants were measured by positron emission tomography in (1) normal cynomolgus monkeys and (2) a series of cynomolgus and rhesus monkeys that had received intracarotid infusions of 1-methyl-4-phenyl-1,2,3,6-tetrahydropyridine (MPTP). After the animals were killed, the number and...

journal_title：Annals of neurology

authors： Pate BD,Kawamata T,Yamada T,McGeer EG,Hewitt KA,Snow BJ,Ruth TJ,Calne DB

更新日期：1993-09-01 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：:Female patients experience substantial neuroprotection after experimental stroke compared with male patients, a finding attributed to the protective effects of gonadal hormones. This study examined the response of male- and female-derived organotypic hippocampal slices to oxidative and excitotoxic injury. Both oxygen ...

journal_title：Annals of neurology

authors： Li H,Pin S,Zeng Z,Wang MM,Andreasson KA,McCullough LD

更新日期：2005-08-01 00:00:00

abstract：:The disappearance rates from plasma of intravenously administered levo-norepinephrine (l-NE), dextro-norepinephrine (d-NE), and isoproterenol (ISO) were measured in normal subjects and in patients with either multiple-system atrophy (MSA) or idiopathic orthostatic hypotension (IOH). The two isomers, l-NE and d-NE, wer...

journal_title：Annals of neurology

authors： Polinsky RJ,Goldstein DS,Brown RT,Keiser HR,Kopin IJ

更新日期：1985-07-01 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：:To this day, the cause of multiple system atrophy (MSA) remains stubbornly enigmatic. A growing body of observations regarding the clinical, morphological, and biochemical phenotypes of MSA has been published, but the interested student is still left without a clue as to its underlying cause. MSA has long been conside...

journal_title：Annals of neurology

authors： Wenning GK,Stefanova N,Jellinger KA,Poewe W,Schlossmacher MG

更新日期：2008-09-01 00:00:00