Neurofilament and glial fibrillary acidic protein in multiple sclerosis.

abstract：:Mutations in POMT1 have been identified in Walker-Warburg syndrome and in patients with limb-girdle muscular dystrophy and mental retardation (LGMD2K). The authors report new POMT1 mutations in three unrelated children with severe motor impairment, leg hypertrophy, and mental retardation but without brain and ocular m...

journal_title：Neurology

authors： D'Amico A,Tessa A,Bruno C,Petrini S,Biancheri R,Pane M,Pedemonte M,Ricci E,Falace A,Rossi A,Mercuri E,Santorelli FM,Bertini E

更新日期：2006-05-23 00:00:00

abstract：:The authors report eight patients with primary dural lymphoma (PDL). All patients had extra-axial masses on MRI that diffusely enhanced after gadolinium. Pathology revealed low-grade non-Hodgkin lymphoma (marginal zone lymphoma of MALT [mucosa-associated lymphoid tissue] type) in all patients. All patients underwent r...

journal_title：Neurology

authors： Iwamoto FM,DeAngelis LM,Abrey LE

更新日期：2006-06-13 00:00:00

abstract：:We studied three patients with Leigh's syndrome (LS) and cytochrome c oxidase (COX) deficiency. Biochemical studies in brain, muscle, heart, liver, kidney, and fibroblasts disclosed a generalized COX deficiency. Kinetic studies of COX activity in brain mitochondria showed a low Vmax and a normal Km for reduced cytochr...

journal_title：Neurology

authors： Lombes A,Nakase H,Tritschler HJ,Kadenbach B,Bonilla E,DeVivo DC,Schon EA,DiMauro S

更新日期：1991-04-01 00:00:00

abstract：OBJECTIVE:To investigate the genetic and physiologic basis of the neuromuscular symptoms of hypotonia-cystinuria syndrome (HCS) and isolated PREPL deficiency, and their response to therapy. METHODS:We performed molecular genetic, histochemical, immunoblot, and ultrastructural studies, investigated neuromuscular transm...

journal_title：Neurology

authors： Régal L,Shen XM,Selcen D,Verhille C,Meulemans S,Creemers JW,Engel AG

更新日期：2014-04-08 00:00:00

abstract：OBJECTIVE:To clinically characterize the temporal relationship between dyskinesia and the antiparkinsonian response when dyskinesia first emerges during long-term levodopa therapy and to determine if it is consistent with the hypothesized mechanism by which dyskinesia develops. METHODS:Dyskinesia and the antiparkinson...

journal_title：Neurology

authors： Nutt JG,Chung KA,Holford NH

更新日期：2010-04-13 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：:Motor axons supplying lumbrical muscles are less severely affected than axons supplying thenar muscles in the carpal tunnel syndrome; sometimes lumbrical motor fibers are less affected than digit 2 sensory fibers. This pattern is consistent with compression of both the anterior and posterior aspects of the median nerv...

journal_title：Neurology

authors： Logigian EL,Busis NA,Berger AR,Bruyninckx F,Khalil N,Shahani BT,Young RR

更新日期：1987-09-01 00:00:00

abstract：OBJECTIVE:To estimate the prevalence of childhood ataxia resulting from both genetic and acquired causes. METHODS:A systematic review was conducted following the PRISMA (Preferred Reporting Items for Systematic Reviews and Meta-analyses) statement. Five databases were searched for articles reporting a frequency measur...

journal_title：Neurology

authors： Musselman KE,Stoyanov CT,Marasigan R,Jenkins ME,Konczak J,Morton SM,Bastian AJ

更新日期：2014-01-07 00:00:00

abstract：OBJECTIVES:To investigate clinical, imaging, and pathologic associations of the cingulate island sign (CIS) in dementia with Lewy bodies (DLB). METHODS:We retrospectively identified and compared patients with a clinical diagnosis of DLB (n=39); patients with Alzheimer disease (AD) matched by age, sex, and education (n...

journal_title：Neurology

authors： Graff-Radford J,Murray ME,Lowe VJ,Boeve BF,Ferman TJ,Przybelski SA,Lesnick TG,Senjem ML,Gunter JL,Smith GE,Knopman DS,Jack CR Jr,Dickson DW,Petersen RC,Kantarci K

更新日期：2014-08-26 00:00:00

abstract：OBJECTIVE:To study the distribution of prior scoliosis among patients with primary adult-onset cervical dystonia (CD) and matched control subjects. METHODS:Case and control subjects were selected among consecutive outpatients attending four Italian centers. Control outpatients were matched for age (+/-5 years), sex, a...

journal_title：Neurology

authors： Defazio G,Abbruzzese G,Girlanda P,Buccafusca M,Currà A,Marchese R,Martino D,Masi G,Mazzella L,Vacca L,Livrea P,Berardelli A

更新日期：2003-03-25 00:00:00

abstract：:Generalized epilepsy with febrile seizures plus (GEFS+) is a clinically and genetically heterogeneous syndrome with childhood onset, characterized by febrile seizures (FS) and a variety of afebrile epileptic seizure types. The authors performed a mutational analysis of SCN1B on 74 unrelated probands with GEFS+, FS, or...

journal_title：Neurology

authors： Audenaert D,Claes L,Ceulemans B,Löfgren A,Van Broeckhoven C,De Jonghe P

更新日期：2003-09-23 00:00:00

abstract：:Charcot-Marie-Tooth disease type 1A (CMT1A) and hereditary neuropathy with liability to pressure palsies (HNPP) are inherited peripheral neuropathies. In most cases these disorders are caused by either the duplication (in CMT1A) or the deletion (in HNPP) of a 1.5-megabase DNA fragment on chromosome 17p11.2, which cont...

journal_title：Neurology

authors： Young P,Stögbauer F,Wiebusch H,Löfgren A,Timmerman V,Van Broeckhoven C,Ringelstein EB,Assmann G,Funke H

更新日期：1998-03-01 00:00:00

abstract：:The term "Wernicke's area" is most often used as an anatomical label for the gyri forming the lower posterior left sylvian fissure. Although traditionally this region was held to support language comprehension, modern imaging and neuropsychological studies converge on the conclusion that this region plays a much large...

journal_title：Neurology

authors： Binder JR

更新日期：2015-12-15 00:00:00

abstract：OBJECTIVE:To characterize the molecular basis of a novel fast-channel congenital myasthenic syndrome. METHODS:We used the candidate gene approach to identify the pathogenic mutation in the acetylcholine receptor (AChR) ε subunit, genetically engineered the mutant AChR into HEK cells, and evaluated the level of express...

journal_title：Neurology

authors： Shen XM,Brengman JM,Edvardson S,Sine SM,Engel AG

更新日期：2012-07-31 00:00:00

abstract：BACKGROUND:In patients with multiple sclerosis (MS), contrast-enhancing lesions (CELs) on postcontrast MRI are considered markers of the inflammatory responses associated with blood-brain barrier breakdown. Based upon shape, CELs may be defined as nodular (nCEL) or ring (rCEL) lesions. Several short-term studies pointe...

journal_title：Neurology

authors： Davis M,Auh S,Riva M,Richert ND,Frank JA,McFarland HF,Bagnato F

更新日期：2010-03-09 00:00:00

abstract：:This update to the American Academy of Neurology's 1998 position statement endeavors to provide guidance for the consistent ethical conduct and review of neurologic research involving human participants. It does so by outlining a widely used ethical framework of 7 principles derived from the foundational documents of ...

journal_title：Neurology

authors： Tolchin B,Conwit R,Epstein LG,Russell JA,Ethics, Law, and Humanities Committee, a joint committee of the American Academy of Neurology, American Neurological Association, and Child Neurology Society.

更新日期：2020-04-14 00:00:00

abstract：OBJECTIVE:Genetic variants ε2/ε4 within the APOE gene are established risk factors for lobar intracerebral hemorrhage (ICH). Published preliminary data suggest a potential role for APOE ε4 in risk of nonlobar ICH. We therefore investigated the role of APOE in recurrent nonlobar ICH, and sought to clarify whether effect...

journal_title：Neurology

authors： Raffeld MR,Biffi A,Battey TW,Ayres AM,Viswanathan A,Greenberg SM,Rosand J,Anderson CD

更新日期：2015-07-28 00:00:00

abstract：:Two siblings and a third child exhibited a syndrome of progressive muscular weakness and wasting, closely resembling Werdnig-Hoffmann's disease. Autopsy of one of the siblings and the third child showed nearly total absence of myelin sheaths in the cranial and spinal nerve roots, relative preservation of axons, and no...

journal_title：Neurology

authors： Kasman M,Bernstein L,Schulman S

更新日期：1976-06-01 00:00:00

abstract：OBJECTIVE:To evaluate an observational-behavioral pain tool among individuals with acute poststroke aphasia. METHODS:We performed a randomized, double-blind, controlled study of experimental pain assessment among 36 adult patients with acute poststroke aphasia. Patients were administered 3 levels of mechanical pain, i...

journal_title：Neurology

authors： Soares CD,Panuganti PK,Shrivastava A,Aroor S,Keinath KM,Bromagen MC,Howard ME,Carlson C,Smith JH

更新日期：2018-08-28 00:00:00

abstract：:The excitability of the corticospinal system was studied in 23 healthy subjects in sleep stages NREM2, NREM4, REM, and wakefulness using transcranial magnetic stimulation. Assessment of motor thresholds, stimulus-response curves, and latencies of motor evoked potentials shows activation of the fast-conducting corticos...

journal_title：Neurology

authors： Grosse P,Khatami R,Salih F,Kühn A,Meyer BU

更新日期：2002-12-24 00:00:00

abstract：OBJECTIVE:To survey brain death criteria throughout the world. BACKGROUND:The clinical diagnosis of brain death allows organ donation or withdrawal of support. Declaration of brain death follows a certain set of examinations. The code of practice throughout the world has not been systematically investigated. METHODS:...

journal_title：Neurology

authors： Wijdicks EF

更新日期：2002-01-08 00:00:00

abstract：:The childhood type fo dermatomyositis, which occurs in children and young adults, shows a specific constellation of pathologic changes in muscle. Capillary necrosis leads to capillary loss, generally starting on the periphery of muscle fascicles. Electron microscopy discloses undulating tubules in endothelial cells, l...

journal_title：Neurology

authors： Carpenter S,Karpati G,Rothman S,Watters G

更新日期：1976-10-01 00:00:00

abstract：:Previous studies reported that a 2- to 3-week course of IV cyclophosphamide plus adrenocorticotropic hormone (ACTH) induction can temporarily halt progressive MS for a period of 12 months in the majority of patients treated, after which reprogression occurs. The Northeast Cooperative Multiple Sclerosis Treatment Group...

journal_title：Neurology

authors： Weiner HL,Mackin GA,Orav EJ,Hafler DA,Dawson DM,LaPierre Y,Herndon R,Lehrich JR,Hauser SL,Turel A

更新日期：1993-05-01 00:00:00

abstract：OBJECTIVE:Prospective memory (PM) describes the ability to fulfill previously planned intentions and is highly dependent on executive functions. Previous studies have shown deficits in executive functions in patients with juvenile myoclonic epilepsy (JME) and in their unaffected siblings. JME has a strong genetic predi...

journal_title：Neurology

authors： Wandschneider B,Kopp UA,Kliegel M,Stephani U,Kurlemann G,Janz D,Schmitz B

更新日期：2010-12-14 00:00:00

abstract：:The epsilon 4 isoform of apolipoprotein E (Apo-E) may confer genetic susceptibility for familial and sporadic Alzheimer's disease (AD). Because dementia in AD and Parkinson's disease (PD) share many biologic and clinical features, we determined the Apo-E genotypes for 79 patients with PD, 22 of whom were demented, and...

journal_title：Neurology

authors： Marder K,Maestre G,Cote L,Mejia H,Alfaro B,Halim A,Tang M,Tycko B,Mayeux R

更新日期：1994-07-01 00:00:00

abstract：OBJECTIVE:To investigate the sensitivity of MRI of the spine compared with CT myelography (CTM) in detecting CSF leaks. METHODS:Between July 1998 and October 2010, 12 patients with orthostatic headache and a CTM-confirmed spinal CSF leak underwent an MRI of the spine with and without contrast. Using CTM as the gold st...

journal_title：Neurology

authors： Starling A,Hernandez F,Hoxworth JM,Trentman T,Halker R,Vargas BB,Hastriter E,Dodick D

更新日期：2013-11-12 00:00:00

abstract：:HTLV-I-associated myelopathy/tropical spastic paraparesis (HAM/TSP) is endemic in the Caribbean basin and Japan. Because of the close proximity of the United States to the Caribbean and the presence of HTLV-I-seropositive persons in the United States, we sought reports of patients who were HTLV-I seropositive and had ...

journal_title：Neurology

authors： Janssen RS,Kaplan JE,Khabbaz RF,Hammond R,Lechtenberg R,Lairmore M,Chiasson MA,Punsalang A,Roberts B,McKendall RR

更新日期：1991-09-01 00:00:00

abstract：OBJECTIVES:To study the behavioral and neuroanatomic characteristics of perseverative behavior encountered on a target cancellation task in patients with neglect. METHODS:Motor perseverative behavior during line cancellation task was evaluated retrospectively in 60 patients with left hemispatial neglect from right hem...

journal_title：Neurology

authors： Na DL,Adair JC,Kang Y,Chung CS,Lee KH,Heilman KM

更新日期：1999-05-12 00:00:00

abstract：:The clinical and radiologic impact of developing neutralizing antibodies (NAbs) to interferon beta (IFNbeta) while on this therapy for multiple sclerosis (MS) is assessed. On the basis of Class II and III evidence, it is concluded that treatment of patients with MS with IFNbeta (Avonex, Betaseron, or Rebif) is associa...

journal_title：Neurology

authors： Goodin DS,Frohman EM,Hurwitz B,O'Connor PW,Oger JJ,Reder AT,Stevens JC

更新日期：2007-03-27 00:00:00

abstract：:Butyrylcholinesterase is implicated in the pathology of AD. Selective inhibitors increase acetylcholine and improve cognitive function in animal models. In dementia with Lewy bodies, cholinergic activities are more affected than in AD. The authors report a highly significant association between temporal cortex butyryl...

journal_title：Neurology

authors： Perry E,McKeith I,Ballard C

更新日期：2003-06-10 00:00:00