Hyperzincemia in anencephaly and spina bifida: a clue to the pathogenesis of neural tube defects?

abstract：OBJECTIVE:To describe the phenotype and phenotype-genotype correlations in patients with amyotrophic lateral sclerosis (ALS) with TARDBP gene mutations. METHODS:French TARDBP+ patients with ALS (n = 28) were compared first to 3 cohorts: 737 sporadic ALS (SALS), 192 nonmutated familial ALS (FALS), and 58 SOD1 + FALS, a...

journal_title：Neurology

authors： Corcia P,Valdmanis P,Millecamps S,Lionnet C,Blasco H,Mouzat K,Daoud H,Belzil V,Morales R,Pageot N,Danel-Brunaud V,Vandenberghe N,Pradat PF,Couratier P,Salachas F,Lumbroso S,Rouleau GA,Meininger V,Camu W

更新日期：2012-05-08 00:00:00

abstract：:We report the treatment of four patients with inclusion-body myositis (IBM) and severe slowly progressive weakness using high-dose intravenous immunoglobulin (IVIg). After two monthly infusions, the strength of the proximal and less atrophic muscle groups improved or normalized in three of the four patients. The impro...

journal_title：Neurology

authors： Soueidan SA,Dalakas MC

更新日期：1993-05-01 00:00:00

abstract：:Four men with evidence of hemiatrophy resulting from early-life hemispheral injury developed unilateral hemiparkinsonism on the side of the hemiatrophy. The parkinsonism began in the fourth decade and has remained unilateral for 5 to 35 years. In all four patients, the parkinsonism was slowly progressive, but the clin...

journal_title：Neurology

authors： Klawans HL

更新日期：1981-05-01 00:00:00

abstract：:Data from the Aspirin in Transient Ischemic Attack (AITIA) study, an ongoing study of two platelet antiaggregant drugs, and other published therapeutic trials were reviewed to determine whether the severity of stroke is reduced in patients taking platelet antiaggregants. Data from three of four studies suggest that st...

journal_title：Neurology

authors： Grotta JC,Lemak NA,Gary H,Fields WS,Vital D

更新日期：1985-05-01 00:00:00

abstract：OBJECTIVE:SCN8A encodes the sodium channel voltage-gated α8-subunit (Nav1.6). SCN8A mutations have recently been associated with epilepsy and neurodevelopmental disorders. We aimed to delineate the phenotype associated with SCN8A mutations. METHODS:We used high-throughput sequence analysis of the SCN8A gene in 683 pat...

journal_title：Neurology

authors： Larsen J,Carvill GL,Gardella E,Kluger G,Schmiedel G,Barisic N,Depienne C,Brilstra E,Mang Y,Nielsen JE,Kirkpatrick M,Goudie D,Goldman R,Jähn JA,Jepsen B,Gill D,Döcker M,Biskup S,McMahon JM,Koeleman B,Harris M,Bra

更新日期：2015-02-03 00:00:00

abstract：:We measured beta-carbolinium cations (BC+s) endogenous analogs of the N-methyl-4-phenylpyridinium ion (MPP+), in the lumbar CSF of 22 patients with idiopathic Parkinson's disease (PD) and 11 age-matched controls without any symptoms of parkinsonism. Among the BC+s, 2,9-diemethylnorharmanium cation (2,9-Me2NH+), the mo...

journal_title：Neurology

authors： Matsubara K,Kobayashi S,Kobayashi Y,Yamashita K,Koide H,Hatta M,Iwamoto K,Tanaka O,Kimura K

更新日期：1995-12-01 00:00:00

abstract：:This study investigates a canine model of experimental brain tumor. Particularly addressed was the usefulness of gadolinium contrast-enhanced MRI for differentiating brain tumor tissue from cerebral edema. Cultured canine glioma cells were injected into the left hemispheres of six adult mongrel dogs. All dogs develope...

journal_title：Neurology

authors： Whelan HT,Clanton JA,Moore PM,Tolner DJ,Kessler RM,Whetsell WO Jr

更新日期：1987-07-01 00:00:00

abstract：:We examined longitudinal disability scores in 54 patients with Parkinson's disease followed for 6 years at UCLA. We sorted data into 3 groups based on age at onset of symptoms: group A, onset under 50 years; group B, 50 to 59 years; group C, 60 years or older. There were no significant differences between groups initi...

journal_title：Neurology

authors： Diamond SG,Markham CH,Hoehn MM,McDowell FH,Muenter MD

更新日期：1989-09-01 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：OBJECTIVE:To conduct a validation study of 123I-N-fluoropropyl-2b-carbomethoxy-3b-(4-iodophenyl) nortropane (123I-FP-CIT) SPECT dopaminergic imaging in the clinical diagnosis of dementia with Lewy bodies (DLB) with autopsy as the gold standard. METHODS:Patients >60 years of age with dementia who had undergone 123I-FP-...

journal_title：Neurology

authors： Thomas AJ,Attems J,Colloby SJ,O'Brien JT,McKeith I,Walker R,Lee L,Burn D,Lett DJ,Walker Z

更新日期：2017-01-17 00:00:00

abstract：:A 48-year-old woman became totally deaf after a head injury. Magnetic resonance imaging showed bilateral contusions around the inferior colliculi and the brainstem auditory evoked potentials (BAEP) failed to show any abnormality. This case demonstrates that small, symmetrical, bilateral lesions around the inferior col...

journal_title：Neurology

authors： Hu CJ,Chan KY,Lin TJ,Hsiao SH,Chang YM,Sung SM

更新日期：1997-05-01 00:00:00

abstract：:Moderate hypothermia (33 degrees C) was induced for 7 and 3 days, respectively, in two patients with multiple sclerosis. In both patients, striking improvement of clinical signs persisted throughout the period of cooling, indicating the potential for sustained reversal of the neurologic deficit. Hypothermia may aid ma...

journal_title：Neurology

authors： Symington GR,Mackay IR,Currie TT

更新日期：1977-03-01 00:00:00

abstract：OBJECTIVE:To determine whether groups of surrogates for patients with severe acute brain injury (SABI) with poor prognosis can be identified based on their prioritization of goals-of-care (GOC) decisional concerns, an online survey of 1,588 adults recruited via a probability-based panel representative of the US populat...

journal_title：Neurology

authors： Hwang DY,Knies AK,Mampre D,Kolenikov S,Schalk M,Hammer H,White DB,Holloway RG,Sheth KN,Fraenkel L

更新日期：2020-05-12 00:00:00

abstract：OBJECTIVE:To classify neuropathologic alterations in the brains of nondemented older adults using current sets of criteria for AD. BACKGROUND:AD neuropathologic alterations are found in the brains of some nondemented elderly subjects and suggest the possibility of presymptomatic AD. Three sets of guidelines have been ...

journal_title：Neurology

authors： Schmitt FA,Davis DG,Wekstein DR,Smith CD,Ashford JW,Markesbery WR

更新日期：2000-08-08 00:00:00

abstract：:The clinical and angiographic correlations of small deep infarcts seen on computed tomography (CT) scan were studied in 297 consecutive patients. Some of these showed the features described by Fisher as part of the lacunar syndrome. In a large number, a source of emboli from either a cardiac or a carotid source was hi...

journal_title：Neurology

authors： Pullicino P,Nelson RF,Kendall BE,Marshall J

更新日期：1980-10-01 00:00:00

abstract：BACKGROUND:Glycine encephalopathy, also known as nonketotic hyperglycinemia (NKH), is an autosomal recessive disorder caused by a defect in the glycine cleavage system. NKH is classically associated with neonatal apnea, lethargy, hypotonia, and seizures, followed by severe psychomotor retardation in those who survive. ...

journal_title：Neurology

authors： Hoover-Fong JE,Shah S,Van Hove JL,Applegarth D,Toone J,Hamosh A

更新日期：2004-11-23 00:00:00

abstract：OBJECTIVE:Clinical trials of fetal neural tissue transplantation for Huntington disease (HD) have been conducted with variable clinical results. However, no long-term analysis of graft survival and integration has been published. Here, we report the pathologic findings in two patients with HD who died 74 and 79 months ...

journal_title：Neurology

authors： Keene CD,Sonnen JA,Swanson PD,Kopyov O,Leverenz JB,Bird TD,Montine TJ

更新日期：2007-06-12 00:00:00

abstract：:Since the emergence of the specialty, neurologists have worked with a rather restricted list of relatively inexpensive pharmacologic agents. This is rapidly changing with the development of new agents for the treatment of migraine, multiple sclerosis, Parkinson's disease, Alzheimer's disease, and epilepsy, accelerated...

journal_title：Neurology

authors： Gunderson CH

更新日期：1995-03-01 00:00:00

abstract：OBJECTIVE:To evaluate the safety and efficacy of l-serine in humans with hereditary sensory autonomic neuropathy type I (HSAN1). METHODS:In this randomized, placebo-controlled, parallel-group trial with open-label extension, patients aged 18-70 years with symptomatic HSAN1 were randomized to l-serine (400 mg/kg/day) o...

journal_title：Neurology

authors： Fridman V,Suriyanarayanan S,Novak P,David W,Macklin EA,McKenna-Yasek D,Walsh K,Aziz-Bose R,Oaklander AL,Brown R,Hornemann T,Eichler F

更新日期：2019-01-22 00:00:00

abstract：OBJECTIVE:We developed the Recurrence and Recovery Questionnaire (RRQ) by converting the Pediatric Stroke Outcome Measure (PSOM) to a questionnaire for telephone interview and sought to validate the RRQ in a large cohort. METHOD:We analyzed parents' RRQ responses and same-day PSOM assessments for 232 children who had ...

journal_title：Neurology

authors： Lo WD,Ichord RN,Dowling MM,Rafay M,Templeton J,Halperin A,Smith SE,Licht DJ,Moharir M,Askalan R,Deveber G,International Pediatric Stroke Study (IPSS) Investigators.

更新日期：2012-08-28 00:00:00

abstract：:A 16-year-old male with a 9-year history of spontaneously arrested hydrocephalus was noted to have hydrosyringomyelia and increased intracranial pressure shortly after sustaining minor head trauma. His symptoms resolved completely following ventriculoperitoneal shunt replacement. Hydrosyringomyelia may occur in the se...

journal_title：Neurology

authors： Olson DM,Milstein JM

更新日期：1988-04-01 00:00:00

abstract：:We describe 263 patients with autosomal dominant cerebellar ataxia from the Holguín province, Cuba. There is evidence of a common ancestry and the population represents the largest homogeneous group of patients yet described. Primary features include gait ataxia, dysarthria, dysmetria, adiadochokinesia, cramps, tremor...

journal_title：Neurology

authors： Orozco Diaz G,Nodarse Fleites A,Cordovés Sagaz R,Auburger G

更新日期：1990-09-01 00:00:00

abstract：BACKGROUND:Among patients with a patent foramen ovale (PFO) and a prior cryptogenic ischemic stroke or TIA, the absolute and relative risk of recurrent events is unclear. METHODS:We conducted a systematic review and meta-analysis of clinical studies in any language published up to February 2008. We included studies re...

journal_title：Neurology

authors： Almekhlafi MA,Wilton SB,Rabi DM,Ghali WA,Lorenzetti DL,Hill MD

更新日期：2009-07-14 00:00:00

abstract：OBJECTIVE:To apply the ATN scheme to memory clinic patients, to assess whether it discriminates patient populations with specific features. METHODS:We included 305 memory clinic patients (33% subjective cognitive decline [SCD]: 60 ± 9 years, 61% M; 19% mild cognitive impairment [MCI]: 68 ± 9 years, 68% M; 48% dementia...

journal_title：Neurology

authors： Altomare D,de Wilde A,Ossenkoppele R,Pelkmans W,Bouwman F,Groot C,van Maurik I,Zwan M,Yaqub M,Barkhof F,van Berckel BN,Teunissen CE,Frisoni GB,Scheltens P,van der Flier WM

更新日期：2019-10-22 00:00:00

abstract：OBJECTIVE:The NIH Stroke Scale (NIHSS) may not appropriately assess the spectrum of posterior circulation (PC)-related neurologic deficits. We determined the cutoff baseline NIHSS score that predicts independent daily life activity during the chronic stage in anterior circulation (AC) vs PC ischemic strokes. METHODS:A...

journal_title：Neurology

authors： Sato S,Toyoda K,Uehara T,Toratani N,Yokota C,Moriwaki H,Naritomi H,Minematsu K

更新日期：2008-06-10 00:00:00

abstract：OBJECTIVE:To investigate the relationship between cerebral amyloid angiopathy (CAA), dementia, and cognitive function in an autopsy sample of 211 Japanese-American men from the population-based Honolulu-Asia Aging Study. METHODS:Starting in 1991, participants were assessed with the Cognitive Abilities Screening Instru...

journal_title：Neurology

authors： Pfeifer LA,White LR,Ross GW,Petrovitch H,Launer LJ

更新日期：2002-06-11 00:00:00

abstract：:Sera from patients with multiple sclerosis (MS), patients with neurologic diseases other than MS, controls (adult and newborn), and rabbits immunized with bovine oligodendrocytes were assayed for antioligodendrocyte antibodies by a binding test with 125I-protein A. The mean binding of 125I-protein A to oligodendrocyte...

journal_title：Neurology

authors： Steck AJ,Regli F

更新日期：1980-05-01 00:00:00

abstract：OBJECTIVE:To better understand the epileptogenesis of symptomatic generalized epilepsy in patients with hypothalamic hamartoma and intractable epilepsy, many of whom experience remission of generalized seizures and slow spike-wave discharges following surgery. METHODS:The authors documented the evolution of symptomati...

journal_title：Neurology

authors： Freeman JL,Harvey AS,Rosenfeld JV,Wrennall JA,Bailey CA,Berkovic SF

更新日期：2003-03-11 00:00:00

abstract：BACKGROUND:In acute cerebral ischemia, two variables characterize the extent of hypoperfusion: the volume of hypoperfused tissue and the intensity of hypoperfusion within these regions. We evaluated the determinants of the intensity of hypoperfusion within oligemic regions among patients who were eligible for recanaliz...

journal_title：Neurology

authors： Bang OY,Saver JL,Alger JR,Starkman S,Ovbiagele B,Liebeskind DS,UCLA Collateral Investigators.

更新日期：2008-11-25 00:00:00

abstract：:We tested three serotonin antagonists--lysergic acid diethylamide (LSD), 2-bromolysergic acid diethylamide (BOL), and cinanserin--for effects on experimental spinal cord ischemia in the rabbit. Blood flow to spinal cord was obstructed. Drugs were administered before or after initiation of occlusion, and flow was later...

journal_title：Neurology

authors： Zivin JA,Venditto JA

更新日期：1984-04-01 00:00:00