Expression and regulation of IFNalpha/beta receptor in IFNbeta-treated patients with multiple sclerosis.

abstract：OBJECTIVE:To compare the clinical features of patients showing a classical phenotype of facioscapulohumeral muscular dystrophy (FSHD) with genetic and epigenetic characteristics of the FSHD1 and FSHD2 loci D4Z4 and SMCHD1. METHODS:This is a national multicenter cohort study. We measured motor strength, motor function,...

journal_title：Neurology

authors： Sacconi S,Briand-Suleau A,Gros M,Baudoin C,Lemmers RJLF,Rondeau S,Lagha N,Nigumann P,Cambieri C,Puma A,Chapon F,Stojkovic T,Vial C,Bouhour F,Cao M,Pegoraro E,Petiot P,Behin A,Marc B,Eymard B,Echaniz-Laguna A,Laf

更新日期：2019-05-07 00:00:00

abstract：:We studied the effects of botulinum toxin A in 12 patients with spasticity and in eight patients with rigidity. The study design was a double-blind, placebo-controlled crossover trial with botulinum toxin A versus saline. Using the Ashworth Scale for spasticity and the Unified Parkinson's Disease Rating Scale for rigi...

journal_title：Neurology

authors： Grazko MA,Polo KB,Jabbari B

更新日期：1995-04-01 00:00:00

abstract：:To evaluate possible progressive metabolic changes in Duchenne muscular dystrophy, we used 31P nuclear magnetic resonance spectroscopy to measure high-energy phosphate compounds and phosphorylated diesters (PDE) in resting gastrocnemius muscle of 14 Duchenne patients and 10 normal boys. The patients had higher inorgan...

journal_title：Neurology

authors： Younkin DP,Berman P,Sladky J,Chee C,Bank W,Chance B

更新日期：1987-01-01 00:00:00

abstract：:We investigated the role of ceruloplasmin in the antioxidative process in the brain in a patient with hereditary ceruloplasmin deficiency (HCD). Immunohistochemistry revealed an accumulation of Nepsilon-(carboxymethyl) lysine (CML) in basal ganglia of the HCD brain. In vitro study disclosed that ceruloplasmin inhibite...

journal_title：Neurology

authors： Tajima K,Kawanami T,Nagai R,Horiuchi S,Kato T

更新日期：1999-08-11 00:00:00

abstract：OBJECTIVE:We aimed to create an index to stratify cryptogenic stroke (CS) patients with patent foramen ovale (PFO) by their likelihood that the stroke was related to their PFO. METHODS:Using data from 12 component studies, we used generalized linear mixed models to predict the presence of PFO among patients with CS, a...

journal_title：Neurology

authors： Kent DM,Ruthazer R,Weimar C,Mas JL,Serena J,Homma S,Di Angelantonio E,Di Tullio MR,Lutz JS,Elkind MS,Griffith J,Jaigobin C,Mattle HP,Michel P,Mono ML,Nedeltchev K,Papetti F,Thaler DE

更新日期：2013-08-13 00:00:00

abstract：:Trigeminal neuralgia is an uncommon but troublesome symptom of multiple sclerosis that can be refractory to conventional treatments. Misoprostol, a long-acting prostaglandin E1 analogue, relieved pain in six of seven patients who had failed to respond to conventional pharmacologic therapy. ...

journal_title：Neurology

authors： Reder AT,Arnason BG

更新日期：1995-06-01 00:00:00

abstract：OBJECTIVE:To examine the role of mutations in GABRB3 encoding the β3 subunit of the GABAA receptor in individual patients with epilepsy with regard to causality, the spectrum of genetic variants, their pathophysiology, and associated phenotypes. METHODS:We performed massive parallel sequencing of GABRB3 in 416 patient...

journal_title：Neurology

authors： Møller RS,Wuttke TV,Helbig I,Marini C,Johannesen KM,Brilstra EH,Vaher U,Borggraefe I,Talvik I,Talvik T,Kluger G,Francois LL,Lesca G,de Bellescize J,Blichfeldt S,Chatron N,Holert N,Jacobs J,Swinkels M,Betzler C,Syr

更新日期：2017-01-31 00:00:00

abstract：:GM1 gangliosidosis is usually a pediatric disease caused by hereditary acid beta-galactosidase deficiency. There have been a few cases in adults. We saw a 51-year-old Japanese man with type 3 GM1 gangliosidosis who was manifesting dementia, dysarthria, gait disturbance, and limb rigidity. Radiologic studies showed pla...

journal_title：Neurology

authors： Ohta K,Tsuji S,Mizuno Y,Atsumi T,Yahagi T,Miyatake T

更新日期：1985-10-01 00:00:00

abstract：:A 28-year-old nonimmunocompromised man developed secondary syphilis confirmed by serum and CSF findings. His course was complicated by chorioretinitis, extensive skin lesions, and spastic paraparesis secondary to syphilitic meningomyelitis. MRI of the spinal cord was strikingly abnormal. ...

journal_title：Neurology

authors： Strom T,Schneck SA

更新日期：1991-02-01 00:00:00

abstract：:MRI and CSF investigations revealed meningeal involvement in a 29-year-old patient with biopsy-confirmed Wegener's granulomatosis. The intracranial manifestation of Wegener's granulomatosis was supported by the detection of pathologic circulating antineutrophil cytoplasm (c-ANCA) in the CSF. We monitored disease activ...

journal_title：Neurology

authors： Spranger M,Schwab S,Meinck HM,Tischendorf M,Sis J,Breitbart A,Andrassy K

更新日期：1997-01-01 00:00:00

abstract：:We have identified large-scale deletions in muscle mitochondrial DNA (mtDNA) in seven of seven patients with Kearns-Sayre syndrome (KSS). We found no detectable deletions in the mtDNA of ten non-KSS patients with other mitochondrial myopathies or encephalomyopathies, or three normal controls. The deletions ranged in s...

journal_title：Neurology

authors： Zeviani M,Moraes CT,DiMauro S,Nakase H,Bonilla E,Schon EA,Rowland LP

更新日期：1988-09-01 00:00:00

abstract：OBJECTIVE:Coccidioides species are the most common etiologic agents of chronic meningitis in regions endemic for coccidioidomycosis. Occasionally, even short-term travel to endemic regions results in the acquisition of meningeal disease, so awareness of this complication of coccidioidomycosis is important even in nonen...

journal_title：Neurology

authors： Drake KW,Adam RD

更新日期：2009-11-24 00:00:00

abstract：:Recent evidence suggests that the vasopressin analogue desglycinamide-arginine8-vasopressin (DGAVP) might specifically benefit mild brain trauma patients. We investigated the effect of intranasal DGAVP treatment in 32 patients who had sustained a mild head injury for 3 months in a double-blind, placebo-controlled, mat...

journal_title：Neurology

authors： Bohnen NI,Twijnstra A,Jolles J

更新日期：1993-01-01 00:00:00

abstract：:A moderately retarded Japanese boy, with a normal male karyotype (46,XY), was diagnosed to have a subcortical band heterotopia or double cortex syndrome. The band heterotopia was relatively thick compared with that of other patients reported. On T2-weighted coronal MR sections, there were numerous radial linear struct...

journal_title：Neurology

authors： Ono J,Mano T,Andermann E,Harada K,Sakurai K,Ikeda T,Yoshihara N,Shimizu K,Okada S,Andermann F

更新日期：1997-06-01 00:00:00

abstract：BACKGROUND:Previously, hyperoxia and blood volume increase were reported in the red nucleus and substantia nigra during spontaneous migraine with aura. OBJECTIVE:To further understand the pathophysiologic role of these centers, activation of brainstem structures was investigated in patients with visually triggered mig...

journal_title：Neurology

authors： Cao Y,Aurora SK,Nagesh V,Patel SC,Welch KM

更新日期：2002-07-09 00:00:00

abstract：:We investigated 26 right-handed patients who had aphasia caused by a single infarct in the territory of the left middle cerebral artery (MCA) with cranial CT, positron emission tomography, and a standard language test battery including the Token test. The patients represented an unselected sample of various infarct lo...

journal_title：Neurology

authors： Karbe H,Herholz K,Szelies B,Pawlik G,Wienhard K,Heiss WD

更新日期：1989-08-01 00:00:00

abstract：:The "modified host protein" model of scrapie proposes that the transmissible agent is composed of the degradation-resistant protein, Sp33-37, and that clinical and pathologic signs result from neurotoxic accumulations of this protein. Sp33-37 is an abnormal, amyloidogenic isoform of the normally occurring cellular pro...

journal_title：Neurology

authors： Bendheim PE,Brown HR,Rudelli RD,Scala LJ,Goller NL,Wen GY,Kascsak RJ,Cashman NR,Bolton DC

更新日期：1992-01-01 00:00:00

abstract：:Women were enrolled in our prospective cohort study of epilepsy and pregnancy to determine the developmental outcome of offspring and the immediate outcome of pregnancy. Women with epilepsy (case group) were enrolled before conception or during the first trimester, and women without epilepsy or chronic illness (contro...

journal_title：Neurology

authors： Leavitt AM,Yerby MS,Robinson N,Sells CJ,Erickson DM

更新日期：1992-04-01 00:00:00

abstract：:In spinal cords from seven amyotrophic lateral sclerosis (ALS) patients and four controls, we found no difference in thyrotropin-releasing hormone (TRH) concentration relative to protein content, but there was a reduction per tissue wet weight in ALS. Immunohistochemical localization of TRH in ALS cord was unaltered. ...

journal_title：Neurology

authors： Jackson IM,Adelman LS,Munsat TL,Forte S,Lechan RM

更新日期：1986-09-01 00:00:00

abstract：BACKGROUND:Using a stereologic approach, the density of nerve fibers innervating sweat gland (SG) fragments in patients with diabetes mellitus (DM) and healthy controls using protein gene product (PGP), tyrosine hydroxylase (TH), and vasoactive intestinal peptide (VIP) was measured to determine which marker best detect...

journal_title：Neurology

authors： Liu Y,Billiet J,Ebenezer GJ,Pan B,Hauer P,Wei J,Polydefkis M

更新日期：2015-04-21 00:00:00

abstract：:Increased urinary levels of the polyamines, putrescine, spermidine, and spermine are present in Duchenne muscular dystrophy (DMD) patients. Alterations in excretion are detectable when based on nanomoles per milligram creatinine, micromoles per 24-hour urine collection, or nanomoles per kilogram body weight per 24-hou...

journal_title：Neurology

authors： Russell DH,Stern LZ

更新日期：1981-01-01 00:00:00

abstract：:We studied two unrelated patients with autosomal recessive multisystem triglyceride storage disease. Cultured fibroblasts accumulated 10 times more triglyceride than controls under glycerol or palmitate feeding. Mutant fibroblasts could not degrade accumulated triglycerides of endogenous origin, but normally degraded ...

journal_title：Neurology

authors： Di Donato S,Garavaglia B,Strisciuglio P,Borrone C,Andria G

更新日期：1988-07-01 00:00:00

abstract：BACKGROUND:Biomarker levels in blood after traumatic brain injury (TBI) may offer diagnostic and prognostic tools in addition to clinical indices. This study aims to validate glial fibrillary acidic protein (GFAP) and S100B concentrations in blood as outcome predictors of TBI using cutoff levels of 1.5 μg/L for GFAP an...

journal_title：Neurology

authors： Vos PE,Jacobs B,Andriessen TM,Lamers KJ,Borm GF,Beems T,Edwards M,Rosmalen CF,Vissers JL

更新日期：2010-11-16 00:00:00

abstract：BACKGROUND:Previous studies have examined the role of APOE variation in multiple sclerosis (MS), but have lacked the statistical power to detect modest genetic influences on risk and disease severity. The meta- and pooled analyses presented here utilize the largest collection, to date, of MS cases, controls, and famili...

journal_title：Neurology

authors： Burwick RM,Ramsay PP,Haines JL,Hauser SL,Oksenberg JR,Pericak-Vance MA,Schmidt S,Compston A,Sawcer S,Cittadella R,Savettieri G,Quattrone A,Polman CH,Uitdehaag BM,Zwemmer JN,Hawkins CP,Ollier WE,Weatherby S,Enzinger C

更新日期：2006-05-09 00:00:00

abstract：:We measured the duration and amplitude of saccades in three normal subjects, eight patients with myasthenia gravis, and eight patients with nonmyasthenic ocular palsies. Saccades were examined at the start of a repetitive saccade task, after 3 minutes of activity, and 1 minute after administration of edrophonium. The ...

journal_title：Neurology

authors： Barton JJ,Jama A,Sharpe JA

更新日期：1995-11-01 00:00:00

abstract：OBJECTIVE:To determine, in a cross-sectional evaluation of nondemented individuals, if age-related memory decline is influenced by apolipoprotein E (apoE) genotype. BACKGROUND:The apoE-4 allele is an important risk factor for AD. PET in cognitively normal apoE-4 carriers (mean age, 56 years) shows reduced cerebral met...

journal_title：Neurology

authors： Caselli RJ,Graff-Radford NR,Reiman EM,Weaver A,Osborne D,Lucas J,Uecker A,Thibodeau SN

更新日期：1999-07-13 00:00:00

abstract：OBJECTIVE:To determine whether comorbidity is associated with clinical (relapses, disability worsening) and MRI outcomes in multiple sclerosis (MS) by conducting a secondary analysis of the CombiRx clinical trial. METHODS:CombiRx compared interferon beta-1a, glatiramer acetate, and the combination of these agents. For...

journal_title：Neurology

authors： Salter A,Kowalec K,Fitzgerald KC,Cutter G,Marrie RA

更新日期：2020-08-04 00:00:00

abstract：:The authors used PET to show that the abnormal pattern of cerebral blood flow (CBF) activation described in PD is normalized by electrical stimulation of subthalamic nucleus. Improvement in bradykinesia correlated with increase in CBF due to stimulation in the supplementary motor area and anterior cingulate cortex. Co...

journal_title：Neurology

authors： Strafella AP,Dagher A,Sadikot AF

更新日期：2003-03-25 00:00:00

abstract：:The administration of lecithin has failed to improve memory in aged or demented individuals. We studied the effect of lecithin on another cholinergic function, REM sleep latency. Intravenous doses of physostigmine shortened the latency to the first REM sleep period, but oral lecithin did not. In contrast to physostigm...

journal_title：Neurology

authors： Kapen S,Fleming PD,Drachman DA

更新日期：1986-08-01 00:00:00

abstract：OBJECTIVE:To develop a scientifically sound and clinically relevant evidence-based guideline for the treatment of painful diabetic neuropathy (PDN). METHODS:We performed a systematic review of the literature from 1960 to August 2008 and classified the studies according to the American Academy of Neurology classificati...

journal_title：Neurology

authors： Bril V,England J,Franklin GM,Backonja M,Cohen J,Del Toro D,Feldman E,Iverson DJ,Perkins B,Russell JW,Zochodne D,American Academy of Neurology.,American Association of Neuromuscular and Electrodiagnostic Medicine.,American Acade

更新日期：2011-05-17 00:00:00