Prenatal testing for late infantile neuronal ceroid lipofuscinosis.

abstract：:The unloading reflex was measured in the intrinsic muscles of the hand. By removing various fractions of the load on the muscles, we determined the size of the electromyographic response as a function of the change in the external force. This technique was applied to both hands of a patient with a pontine lesion who h...

journal_title：Annals of neurology

authors： Angel RW,Goldstein M

更新日期：1983-03-01 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：: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：:A recent observation has shown that a common polymorphism in the alpha1-antichymotrypsin (ACT) gene modifies the apolipoprotein E (ApoE) epsilon4-associated Alzheimer's disease (AD) risk identifying the combination of the ACT/AA and ApoE epsilon4/epsilon4 genotypes as a potential susceptibility marker for AD. We analy...

journal_title：Annals of neurology

authors： Nacmias B,Tedde A,Latorraca S,Piacentini S,Bracco L,Amaducci L,Guarnieri BM,Petruzzi C,Ortenzi L,Sorbi S

更新日期：1996-10-01 00:00:00

abstract：:A child with neurofibromatosis exhibited gigantism and acromegaly in association with a hypothalamic mass lesion. Bromocriptine, 5 mg daily, reduced somatic growth rate and restored biochemical homeostasis but had no effect on tumor growth. Radiation therapy arrested tumor enlargement and stabilized deteriorating visu...

journal_title：Annals of neurology

authors： Duchowny MS,Katz R,Bejar RL

更新日期：1984-03-01 00:00:00

abstract：:Glucose metabolism is depressed in the temporal and parietal regions of the cortex in patients with Alzheimer's disease. We measured the concentrations of two glucose transporters, GLUT1 and GLUT3, in six regions of brains from both control subjects and patients with Alzheimer's disease. The concentrations of both tra...

journal_title：Annals of neurology

authors： Simpson IA,Chundu KR,Davies-Hill T,Honer WG,Davies P

更新日期：1994-05-01 00:00:00

abstract：:Mutations in genes encoding the NADH ubiquinone oxidoreductase, complex I of the respiratory chain, cause a diverse group of diseases. They include Leber hereditary optic neuropathy, Leigh syndrome, and mitochondrial encephalomyopathy with lactic acidosis and stroke-like episodes. There is no effective treatment for t...

journal_title：Annals of neurology

authors： Qi X,Lewin AS,Sun L,Hauswirth WW,Guy J

更新日期：2004-08-01 00:00:00

abstract：:Mitochondrial iron accumulation is thought to underlie the pathophysiology of Friedreich ataxia and may occur at the expense of cytosolic iron. Decreases in cytosolic iron induce expression of the transferrin receptor, some of which is released into the serum. Here, we demonstrate that serum transferrin receptor conce...

journal_title：Annals of neurology

authors： Wilson RB,Lynch DR,Farmer JM,Brooks DG,Fischbeck KH

更新日期：2000-05-01 00:00:00

abstract：:The causes of amyotrophic lateral sclerosis, Parkinson disease, and Alzheimer disease are unknown. Furthermore, treatment for two of these conditions is almost totally lacking. The thesis is presented that each of these disorders is due to lack of a disorder-specific neurotrophic hormone. The hormone would be elaborat...

journal_title：Annals of neurology

authors： Appel SH

更新日期：1981-12-01 00:00:00

abstract：:Several mutations in the amyloid precursor protein (APP) gene have been found to associate with pathologic deposition of the beta-amyloid peptide (Abeta) in neuritic plaques or in the walls of cerebral vessels. We report a mutation at a novel site in APP in a three-generation Iowa family with autosomal dominant dement...

journal_title：Annals of neurology

authors： Grabowski TJ,Cho HS,Vonsattel JP,Rebeck GW,Greenberg SM

更新日期：2001-06-01 00:00:00

abstract：OBJECTIVE:Brain-computer interfaces (BCIs) could potentially be used to interact with pathological brain signals to intervene and ameliorate their effects in disease states. Here, we provide proof-of-principle of this approach by using a BCI to interpret pathological brain activity in patients with advanced Parkinson d...

journal_title：Annals of neurology

authors： Little S,Pogosyan A,Neal S,Zavala B,Zrinzo L,Hariz M,Foltynie T,Limousin P,Ashkan K,FitzGerald J,Green AL,Aziz TZ,Brown P

更新日期：2013-09-01 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：:The prevalence and titer of serum antibodies to several Epstein-Barr virus (EBV) antigens were compared among patients with multiple sclerosis, healthy siblings of multiple sclerosis patients, patients with other neurological diseases, and healthy non-blood-related subjects. Serum-cerebrospinal fluid (serum-CSF) pairs...

journal_title：Annals of neurology

authors： Sumaya CV,Myers LW,Ellison GW,Ench Y

更新日期：1985-04-01 00:00:00

abstract：:We carried out a comprehensive assessment of eye movements in 2 subjects with impaired facial learning and recognition to determine if the defect might be associated with abnormal scanning of faces. Standard electroculogram showed that fixation, pursuit, saccades, and scanning of salient features of scenes and faces w...

journal_title：Annals of neurology

authors： Rizzo M,Hurtig R,Damasio AR

更新日期：1987-07-01 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：OBJECTIVE:Gut microbiome alterations in Parkinson disease (PD) have been reported repeatedly, but their functional relevance remains unclear. Fecal metabolomics, which provide a functional readout of microbial activity, have scarcely been investigated. We investigated fecal microbiome and metabolome alterations in PD, ...

journal_title：Annals of neurology

authors： Tan AH,Chong CW,Lim SY,Yap IKS,Teh CSJ,Loke MF,Song SL,Tan JY,Ang BH,Tan YQ,Kho MT,Bowman J,Mahadeva S,Yong HS,Lang AE

更新日期：2020-12-03 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：:White matter degeneration is one of the pathological conditions of dentatorubral-pallidoluysian atrophy. Autopsy brains exhibited a reduced number of glial cells in the lesions and an involvement of oligodendrocytes in nuclear inclusion formation, which previously has been recognized only as a pathological hallmark in...

journal_title：Annals of neurology

authors： Yamada M,Sato T,Tsuji S,Takahashi H

更新日期：2002-11-01 00:00:00

abstract：OBJECTIVE:Cortical spreading depolarizations (CSDs) are intense and ubiquitous depolarization waves relevant for the pathophysiology of migraine and brain injury. CSDs disrupt the blood-brain barrier (BBB), but the mechanisms are unknown. METHODS:A total of six CSDs were evoked over 1 hour by topical application of 30...

journal_title：Annals of neurology

authors： Sadeghian H,Lacoste B,Qin T,Toussay X,Rosa R,Oka F,Chung DY,Takizawa T,Gu C,Ayata C

更新日期：2018-09-01 00:00:00

abstract：:Two members of a family with a neuropathy resembling Charcot-Marie-Tooth disease were unable to relax their muscles after voluntary contraction. Muscle spasm often outlasted voluntary contraction by 30 seconds or more before subsiding into myokymia and fasciculations. The posture of the hand during muscle spasm resemb...

journal_title：Annals of neurology

authors： Lance JW,Burke D,Pollard J

更新日期：1979-06-01 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：:We previously reported a marked increase of a 20,000 molecular weight (MW) protein, P20, in some neuronal fractions and whole cortical homogenates isolated from affected cortex in Alzheimer disease; P20 comigrated electrophoretically with an unidentified, major 20,000 MW protein present in human neurofilament (NF) fra...

journal_title：Annals of neurology

authors： Selkoe DJ,Brown BA,Salazar FJ,Marotta CA

更新日期：1981-11-01 00:00:00

abstract：:The value of various enhancement techniques as opposed to nonenhanced CT scanning was compared in 15 baboons with cerebral infarction secondary to embolization of the left middle cerebral artery. The most prominent CT findings in infarction included an area of low absorption in the opercula--basal ganglia--centrum sem...

journal_title：Annals of neurology

authors： Drayer BP,Dujovny M,Wolfson SK Jr,Boehnke M,Cook EE,Rosenbaum AE

更新日期：1979-01-01 00:00:00

abstract：OBJECTIVE:In multiple sclerosis (MS), cerebral gray matter (GM) atrophy correlates more strongly than white matter (WM) atrophy with disability. The corresponding relationships in the spinal cord (SC) are unknown due to technical limitations in assessing SC GM atrophy. Using phase-sensitive inversion recovery (PSIR) ma...

journal_title：Annals of neurology

authors： Schlaeger R,Papinutto N,Panara V,Bevan C,Lobach IV,Bucci M,Caverzasi E,Gelfand JM,Green AJ,Jordan KM,Stern WA,von Büdingen HC,Waubant E,Zhu AH,Goodin DS,Cree BA,Hauser SL,Henry RG

更新日期：2014-10-01 00:00:00

abstract：:Authorship of scientific publications holds great importance for basic and clinical researchers. Academic appointments and promotions, grant funding, and salary support depend to some extent on published recognition through authorship. Peer-recognition and personal satisfaction are additional incentives for authorship...

journal_title：Annals of neurology

authors： Kaufmann P,Annis C,Griggs RC,Muscle Study Group Executive Committee.

更新日期：2010-12-01 00:00:00

abstract：:Recently, variant mRNA transcripts for the astroglial glutamate transporter EAAT2 have been detected in brain tissues of 60% of patients with sporadic amyotrophic lateral sclerosis (SALS). We have tested the hypothesis that the gene for EAAT2 may be defective in some ALS cases. In 16 familial ALS (FALS) pedigrees with...

journal_title：Annals of neurology

authors： Aoki M,Lin CL,Rothstein JD,Geller BA,Hosler BA,Munsat TL,Horvitz HR,Brown RH Jr

更新日期：1998-05-01 00:00:00

abstract：:Apolipoprotein E has been implicated in modifying neurological outcome after traumatic brain injury, although the mechanisms by which this occurs remain poorly defined. To investigate the role of endogenous apolipoprotein E following acute brain injury, noninvasive magnetic resonance imaging was performed on anestheti...

journal_title：Annals of neurology

authors： Lynch JR,Pineda JA,Morgan D,Zhang L,Warner DS,Benveniste H,Laskowitz DT

更新日期：2002-01-01 00:00:00

abstract：:In a patient with acquired immunodeficiency disease syndrome (AIDS) and muscle weakness, a muscle biopsy specimen disclosed degeneration of muscle fibers, regeneration, and focal endomysial mononuclear inflammation. A conspicuous feature was the presence of perivascular macrophages within the endomysium that showed po...

journal_title：Annals of neurology

authors： Chad DA,Smith TW,Blumenfeld A,Fairchild PG,DeGirolami U

更新日期：1990-10-01 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：:Selective neuronal vulnerability is a key feature of the neuropathology of Huntington's disease. We used [3H]CP-55,940, a synthetic cannabinoid, to label cannabinoid receptors in tissue sections from individuals dying with Huntington's disease and from normal control subjects. The density of cannabinoid receptors in s...

journal_title：Annals of neurology

authors： Richfield EK,Herkenham M

更新日期：1994-10-01 00:00:00