A deletion in SCN1B is associated with febrile seizures and early-onset absence epilepsy.

abstract：:Recent genetic studies show that the apolipoprotein E epsilon 4 allele (ApoE-epsilon 4) is a risk factor for Alzheimer's disease (AD). If ApoE-epsilon 4 individuals develop AD as they get older, we would expect a decrease in ApoE-epsilon 4 allele frequency with increasing age. We found a marked decline in ApoE-epsilon...

journal_title：Neurology

authors： Rebeck GW,Perls TT,West HL,Sodhi P,Lipsitz LA,Hyman BT

更新日期：1994-08-01 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:To compare the effectiveness of upper extremity virtual reality rehabilitation training (VR) to time-matched conventional training (CT) in the subacute phase after stroke. METHODS:In this randomized, controlled, single-blind phase III multicenter trial, 120 participants with upper extremity motor impairment ...

journal_title：Neurology

authors： Brunner I,Skouen JS,Hofstad H,Aßmus J,Becker F,Sanders AM,Pallesen H,Qvist Kristensen L,Michielsen M,Thijs L,Verheyden G

更新日期：2017-12-12 00:00:00

abstract：:Plasma levels of six short-chain fatty acids (SCFA) were measured in 23 Reye's syndrome patients. In sequential measurements, only propionic acid correlated closely with neurologic severity. Although admission SCFA levels were slightly elevated, there were no significant differences between patients grouped by severit...

journal_title：Neurology

authors： McArthur B,Sarnaik AP,Mitchell RA

更新日期：1984-06-01 00:00:00

abstract：:Progressive supranuclear palsy (PSP) is a relatively common neurodegenerative tauopathy clinically characterized by parkinsonism, axial rigidity, and supranuclear gaze palsy. Pathologic findings of PSP are neuronal loss, gliosis, and neurofibrillary tangles in basal ganglia, diencephalon, and brainstem; there is incre...

journal_title：Neurology

authors： Fujioka S,Algom AA,Murray ME,Strongosky A,Soto-Ortolaza AI,Rademakers R,Ross OA,Wszolek ZK,Dickson DW

更新日期：2013-05-28 00:00:00

abstract：OBJECTIVE:To estimate the US commercially insured multiple sclerosis (MS) annual prevalence from 2008 to 2012. METHODS:The study was a retrospective analysis using PharMetrics Plus, a nationwide claims database for over 42 million covered US representative lives. Annual point prevalence required insurance eligibility ...

journal_title：Neurology

authors： Dilokthornsakul P,Valuck RJ,Nair KV,Corboy JR,Allen RR,Campbell JD

更新日期：2016-03-15 00:00:00

abstract：:Forty-seven consecutive patients presenting acutely with repetitive symptoms indicative of anterior circulation ischemia ("crescendo" transient ischemic attacks) were evaluated to identify clinical features that might reliably predict the presence of significant stenosis, ulceration, or both in the presumably symptoma...

journal_title：Neurology

authors： Rothrock JF,Lyden PD,Yee J,Wiederholt WC

更新日期：1988-02-01 00:00:00

abstract：OBJECTIVE:To determine the current best practice for treatment of infantile spasms in children. METHODS:Database searches of MEDLINE from 1966 and EMBASE from 1980 and searches of reference lists of retrieved articles were performed. Inclusion criteria were the documented presence of infantile spasms and hypsarrhythmi...

journal_title：Neurology

authors： Mackay MT,Weiss SK,Adams-Webber T,Ashwal S,Stephens D,Ballaban-Gill K,Baram TZ,Duchowny M,Hirtz D,Pellock JM,Shields WD,Shinnar S,Wyllie E,Snead OC 3rd,American Academy of Neurology.,Child Neurology Society.

更新日期：2004-05-25 00:00:00

abstract：OBJECTIVES:SCN1A mutations were recently reported in several patients with severe myoclonic epilepsy in infancy (SMEI). The authors analyzed SCN1A mutations in 93 patients with SMEI and made genotype-phenotype correlation to clarify the role of this gene in the etiology of SMEI. METHODS:All patients fulfilled the crit...

journal_title：Neurology

authors： Nabbout R,Gennaro E,Dalla Bernardina B,Dulac O,Madia F,Bertini E,Capovilla G,Chiron C,Cristofori G,Elia M,Fontana E,Gaggero R,Granata T,Guerrini R,Loi M,La Selva L,Lispi ML,Matricardi A,Romeo A,Tzolas V,Valseriati

更新日期：2003-06-24 00:00:00

abstract：:The intracarotid amobarbital test (IAT) is used to lateralize language function and assess hemispheric memory. In this study 23 non-lesional epileptic patients were evaluated. The magnitude of the difference in IAT scores between the two hemispheres was significantly greater in the patients whose seizures lateralized ...

journal_title：Neurology

authors： Swearer JM,Kane KJ,Phillips CA,Weaver JP,Anderson TD,Lavoie MS

更新日期：1999-01-15 00:00:00

abstract：:A number of unresolved issues complicate the effective management of patients with Parkinson's disease (PD). Chief among these is the role of neuroprotective versus symptomatic pharmacologic interventions. Until the etiology of PD is further defined, consensus on appropriate management of this illness is unlikely. Cli...

journal_title：Neurology

authors： Stern MB

更新日期：1997-07-01 00:00:00

abstract：:We compared 42 myasthenia gravis (MG) patients with thymoma with 42 generalized MG patients without thymoma using a modified Osserman classification. The mean Osserman grades at diagnosis, 6 months, and 5 and 10 years post-thymectomy did not differ between groups. Our results indicate that thymoma is not a negative de...

journal_title：Neurology

authors： Bril V,Kojic J,Dhanani A

更新日期：1998-10-01 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

abstract：:We compared the number of new gadolinium-enhancing and T2-weighted lesions on six monthly MRI scans in eight patients with relapsing multiple sclerosis before and during treatment with weekly intramuscular interferon beta-1a (Avonex; 30 microg). MRI activity was modestly reduced during treatment (p = 0.016). The treat...

journal_title：Neurology

authors： Waubant E,Goodkin DE,Sloan R,Andersson PB

更新日期：1999-09-11 00:00:00

abstract：:The authors studied immunoglobulin (Ig) G subclasses in the CSF and sera of patients with relapsing neuromyelitis optica (RNMO) and typical multiple sclerosis (MS). Although the total IgG concentrations were elevated in the CSF of patients with RNMO and MS, IgG1% and IgG1 index were significantly elevated only in pati...

journal_title：Neurology

authors： Nakashima I,Fujihara K,Fujimori J,Narikawa K,Misu T,Itoyama Y

更新日期：2004-01-13 00:00:00

abstract：OBJECTIVE:Evaluating the TBI incidence during the COVID-19 pandemic era compared with similar period in previous year. BACKGROUND:The emergence of SARS-CoV2 influenced the evolution of governmental and hospital policy worldwide, which might eventually impact many aspects. The incidence of many diseases in the Emergenc...

journal_title：Neurology

authors： Prawiroharjo P,Pangeran D,Supriawan H,Lastri D,Mayza A,Zairinal RA,Dewi AR,Asmaniar F,Ramli Y

更新日期：2020-11-17 00:00:00

abstract：BACKGROUND:Idiopathic REM sleep behavior disorder (RBD) is characterized by loss of atonia during REM sleep, resulting in motor activity during dreams. Studies estimate that approximately half of patients with RBD will eventually develop Parkinson disease (PD), so RBD may be an indicator of presymptomatic PD. Several p...

journal_title：Neurology

authors： Postuma RB,Lang AE,Massicotte-Marquez J,Montplaisir J

更新日期：2006-03-28 00:00:00

abstract：:Spinal epidural lipomatosis (SEL) is a rare complication of iatrogenic Cushing's syndrome (CS). There is only one case reported of symptomatic SEL in association with endogenous CS. We present a patient with compressive myeloradiculopathy due to SEL and Cushing's disease and suggest that in SEL of hypercortisolism, th...

journal_title：Neurology

authors： Sivakumar K,Sheinart K,Lidov M,Cohen B

更新日期：1995-12-01 00:00:00

abstract：OBJECTIVE:To investigate whether repetitive transcranial magnetic stimulation (rTMS) can modify spasticity. METHODS:We used high-frequency (5 Hz) and low-frequency (1 Hz) rTMS protocols in 19 remitting patients with relapsing-remitting multiple sclerosis and lower limb spasticity. RESULTS:A single session of 1 Hz rTM...

journal_title：Neurology

authors： Centonze D,Koch G,Versace V,Mori F,Rossi S,Brusa L,Grossi K,Torelli F,Prosperetti C,Cervellino A,Marfia GA,Stanzione P,Marciani MG,Boffa L,Bernardi G

更新日期：2007-03-27 00:00:00

abstract：:We report a patient with unusual MRI abnormalities that had the physical characteristics of ferromagnetic artifact. We believe that the MRI artifacts were due to microscopic embolic metal fragments, most likely from a mechanical heart valve prosthesis. Potential sources of metal emboli should be considered in patients...

journal_title：Neurology

authors： Wingerchuk DM,Krecke KN,Fulgham JR

更新日期：1997-11-01 00:00:00

abstract：OBJECTIVE:To evaluate the efficacy and tolerability of lamotrigine (LTG) for the treatment of pain in HIV-associated sensory neuropathies. METHODS:In a randomized, double-blind study, patients with HIV-associated distal sensory polyneuropathy (DSP) received LTG or placebo during a 7-week dose escalation phase followed...

journal_title：Neurology

authors： Simpson DM,McArthur JC,Olney R,Clifford D,So Y,Ross D,Baird BJ,Barrett P,Hammer AE,Lamotrigine HIV Neuropathy Study Team.

更新日期：2003-05-13 00:00:00

abstract：BACKGROUND:Distal sensory polyneuropathy (DSP) is the most common neurologic complication of human immunodeficiency virus (HIV) infection. Risk factors for DSP have not been adequately defined in the era of highly active antiretroviral therapy. METHODS:The authors evaluated 101 subjects with advanced HIV infection ove...

journal_title：Neurology

authors： Simpson DM,Kitch D,Evans SR,McArthur JC,Asmuth DM,Cohen B,Goodkin K,Gerschenson M,So Y,Marra CM,Diaz-Arrastia R,Shriver S,Millar L,Clifford DB,ACTG A5117 Study Group.

更新日期：2006-06-13 00:00:00

abstract：:We studied the effect of a single oral intake of 30 to 40 grams of alcohol in 4 consecutive patients presenting with Ramsay Hunt syndrome, the most common type of degenerative progressive myoclonic epilepsy (PME) encountered in southern Europe. Clinical and polygraphic monitoring demonstrated abatement of myoclonus in...

journal_title：Neurology

authors： Genton P,Guerrini R

更新日期：1990-09-01 00:00:00

abstract：:Information about 255 children and adults with Pompe disease was gathered through a questionnaire. Disease severity was associated with disease duration and not with age; an early manifestation of the disease implied earlier wheelchair or ventilator dependency. The patient group under age 15 included a subgroup with a...

journal_title：Neurology

authors： Hagemans ML,Winkel LP,Hop WC,Reuser AJ,Van Doorn PA,Van der Ploeg AT

更新日期：2005-06-28 00:00:00

abstract：OBJECTIVE:To investigate the role of alcohol as a causal factor for intracerebral hemorrhage (ICH) and whether its effects might vary according to the pathogenic mechanisms underlying cerebral bleeding. METHODS:We performed a case-control analysis, comparing a cohort of consecutive white patients with ICH aged 55 year...

journal_title：Neurology

authors： Costa P,Grassi M,Iacoviello L,Zedde M,Marcheselli S,Silvestrelli G,DeLodovici ML,Sessa M,Zini A,Paciaroni M,Azzini C,Gamba M,Del Sette M,Toriello A,Gandolfo C,Bonifati DM,Tassi R,Cavallini A,Chiti A,Calabrò RS,Gri

更新日期：2018-07-17 00:00:00

abstract：:Magnetization transfer imaging (MTI) is a magnetic resonance imaging (MRI) technique that is now used in multiple sclerosis (MS) studies, and is thought to have a higher pathological specificity than conventional T2-weighted imaging. This review outlines the correlations between magnetization transfer (MT) metrics and...

journal_title：Neurology

authors： Rovaris M,Horsfield MA,Filippi M

更新日期：1999-01-01 00:00:00

abstract：:Combined infusion of high doses of lidocaine and thiopental in a comatose patient induced major latency and amplitude BAEP changes, which progressed to complete BAEP abolition. Responses returned to normal after drugs were discontinued. EEGs during the episodes showed long-lasting periods of activity suppression, but ...

journal_title：Neurology

authors： García-Larrea L,Artru F,Bertrand O,Pernier J,Mauguière F

更新日期：1988-09-01 00:00:00

abstract：:Hypohidrosis predisposes to hyperthermia and may indicate generalized thermoregulatory failure. To assess the sweating capacity in human poikilothermia, we performed a quantitative analysis of the central and peripheral sudomotor pathways in four women with acquired poikilothermia (aged 29 to 38 years) and nine contro...

journal_title：Neurology

authors： MacKenzie MA,Schönbaum E,Hermus AR,Wollersheim HC,Thien T,Smals AG,Kloppenborg PW

更新日期：1995-08-01 00:00:00

abstract：OBJECTIVE:To determine the rate of relapse occurrence during pregnancy and postpartum. METHODS:In a cross-sectional study using the national multiple sclerosis (MS) registry, pregnant women with relapsing MS were identified. Data on demographics, clinical characteristics, and disease-modifying therapies (DMTs), includ...

journal_title：Neurology

authors： Alroughani R,Alowayesh MS,Ahmed SF,Behbehani R,Al-Hashel J

更新日期：2018-03-06 00:00:00

abstract：:In patients with spatial neglect, contralesional reflexive saccades toward suddenly appearing targets show direction-specific deficits. We examined whether these deficits also occur during free exploration of space. Neglect patients' voluntary eye movements showed reduced amplitudes for saccades in all directions but ...

journal_title：Neurology

authors： Niemeier M,Karnath HO

更新日期：2000-01-25 00:00:00