Hereditary ceruloplasmin deficiency increases advanced glycation end products in the brain.

abstract：PURPOSE:To understand the role of the angiopoietin-like 6 gene (ANGPTL6) in intracranial aneurysms (IAs), we investigated its role in a large cohort of familial IAs. METHODS:Individuals with family history of IA were recruited to the Genetic and Observational Subarachnoid Haemorrhage (GOSH) study. The ANGPTL6 gene was...

journal_title：Neurology

authors： Hostettler IC,O'Callaghan B,Bugiardini E,O'Connor E,Vandrovcova J,Davagnanam I,Alg V,Bonner S,Walsh D,Bulters D,Kitchen N,Brown MM,Grieve J,Werring DJ,Houlden H,Genetics and Observational Subarachnoid Haemorrhage (GOSH) Stu

更新日期：2020-10-26 00:00:00

abstract：:Immunomodulating agents have beneficial effects in the treatment of multiple sclerosis (MS), decreasing the frequency of relapses, the progression of disability, and MRI measures of disease activity. Despite the efficacy of these agents, many patients continue to show progression of disability, breakthrough relapses, ...

journal_title：Neurology

authors： Jeffery DR

更新日期：2004-12-28 00:00:00

abstract：OBJECTIVE:The current literature provides discrepant results regarding preoperative sociodemographic and clinical factors, and no information about preoperative cerebral metabolic patterns associated with apathy after subthalamic nucleus deep brain stimulation (STN-DBS) in Parkinson disease. METHODS:To resolve this is...

journal_title：Neurology

authors： Robert GH,Le Jeune F,Lozachmeur C,Drapier S,Dondaine T,Péron J,Houvenaghel JF,Travers D,Sauleau P,Millet B,Vérin M,Drapier D

更新日期：2014-10-28 00:00:00

abstract：OBJECTIVE:To perform a psychometric evaluation of the inflammatory neuropathy cause and treatment (INCAT) sensory sumscore (ISS) in sensory-motor immune-mediated polyneuropathies. This new sensory scale was evaluated to strive for uniformity in assessing sensory deficit in these disorders. METHODS:The ISS comprises vi...

journal_title：Neurology

authors： Merkies IS,Schmitz PI,van der Meché FG,van Doorn PA

更新日期：2000-02-22 00:00:00

abstract：BACKGROUND:In a previous study, the authors found that the risk of AD among mothers who were 35 years or younger when their children with Down syndrome (DS) were born was five times that of mothers of children with other forms of mental retardation. The current study investigated the specificity of the familial aggrega...

journal_title：Neurology

authors： Schupf N,Kapell D,Nightingale B,Lee JH,Mohlenhoff J,Bewley S,Ottman R,Mayeux R

更新日期：2001-09-25 00:00:00

abstract：:We have discovered a new Italian pedigree with autosomal-dominant ALS. The pedigree, at present, comprises 75 members distributed in five generations. ALS was diagnosed in eight patients. The mean +/- SD age of onset of the disease was 46.8 +/- 13.5 years, with a range of 29 to 63 years. The mean +/- SD duration of th...

journal_title：Neurology

authors： Rainero I,Pinessi L,Tsuda T,Vignocchi MG,Vaula G,Calvi L,Cerrato P,Rossi B,Bergamini L,McLachlan DR

更新日期：1994-02-01 00:00:00

abstract：OBJECTIVE:To investigate the cognitive decline in dementia with Lewy bodies (DLBs) and characterize the contribution of Lewy bodies (LBs) to cognitive impairment in the presence of concurrent Alzheimer disease (AD). METHODS:Cognitive deficits and rates of progression attributable to DLB and AD neuropathology were inve...

journal_title：Neurology

authors： Johnson DK,Morris JC,Galvin JE

更新日期：2005-10-25 00:00:00

abstract：OBJECTIVE:To describe risk and risk factors of epilepsy after hospitalization for brain infection in adults in Sweden. METHODS:This was a matched retrospective cohort study based on the comprehensive National Patient and Cause of Death Registers. All individuals age >18 without prior epilepsy who received inpatient ca...

journal_title：Neurology

authors： Zelano J,Westman G

更新日期：2020-12-15 00:00:00

abstract：OBJECTIVE:Migrainous infarction is considered a rare complication of migraine. Although several studies reported silent brain lesions on neuroimaging in patients with migraine with aura, knowledge about lesion patterns in acute migrainous infarction is scarce. We investigated clinical and MRI characteristics in a serie...

journal_title：Neurology

authors： Wolf ME,Szabo K,Griebe M,Förster A,Gass A,Hennerici MG,Kern R

更新日期：2011-05-31 00:00:00

abstract：BACKGROUND:Patients with progressive supranuclear palsy (PSP) fall frequently, beginning early in the course of their disease. Abnormal vestibulospinal reflexes are suspected, but the angular vestibulo-ocular reflex, which is mediated by the labyrinthine semicircular canals, survives late into the course of the disease...

journal_title：Neurology

authors： Liao K,Wagner J,Joshi A,Estrovich I,Walker MF,Strupp M,Leigh RJ

更新日期：2008-03-04 00:00:00

abstract：OBJECTIVE:To assess resting cerebral blood flow (CBF) in the whole-brain and cerebral white matter (WM) and gray matter (GM) of adults with Fabry disease (FD), using arterial spin labeling (ASL) MRI, and to investigate CBF correlations with WM hyperintensity (WMH) volume and the circulating biomarker lyso-Gb3. METHODS...

journal_title：Neurology

authors： Phyu P,Merwick A,Davagnanam I,Bolsover F,Jichi F,Wheeler-Kingshott C,Golay X,Hughes D,Cipolotti L,Murphy E,Lachmann RH,Werring DJ

更新日期：2018-04-17 00:00:00

abstract：:We performed a retrospective study on a series of 119 of our patients who have Friedreich's disease to assess the predictive value of age at onset, gender, and left ventricular hypertrophy in regard to disease progression. Outcome variables were survival, time to loss of independent gait, and time to confinement in a ...

journal_title：Neurology

authors： De Michele G,Perrone F,Filla A,Mirante E,Giordano M,De Placido S,Campanella G

更新日期：1996-11-01 00:00:00

abstract：:The unique case of a baritone with a spinal dural arteriovenous fistula (SDAVF) causing recurrent, acute paraplegia during singing is described. This case underscores the presence of impaired venous drainage in these lesions and the high level of clinical suspicion required for their diagnosis in patients with any mye...

journal_title：Neurology

authors： Khurana VG,Perez-Terzic CM,Petersen RC,Krauss WE

更新日期：2002-04-23 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：:All Olmsted County, Minnesota, residents who experienced brain injury from 1935 through 1979 were identified and their medical records reviewed for survival and neurologic outcome. Minimum inclusion criteria included loss of consciousness or post-traumatic amnesia or neurologic evidence of brain injury or skull fractu...

journal_title：Neurology

authors： Wiederholt WC,Melton LJ 3rd,Annegers JF,Grabow JD,Laws ER Jr,Ilstrup DM

更新日期：1989-01-01 00:00:00

abstract：OBJECTIVE:To investigate the efficacy and safety of aceneuramic acid extended-release (Ace-ER), a treatment intended to replace deficient sialic acid, in patients with GNE myopathy. METHODS:UX001-CL301 was a phase 3, double-blind, placebo-controlled, randomized, international study evaluating the efficacy and safety o...

journal_title：Neurology

authors： Lochmüller H,Behin A,Caraco Y,Lau H,Mirabella M,Tournev I,Tarnopolsky M,Pogoryelova O,Woods C,Lai A,Shah J,Koutsoukos T,Skrinar A,Mansbach H,Kakkis E,Mozaffar T

更新日期：2019-04-30 00:00:00

abstract：:Electromyography (EMG) was performed in 10 patients with multiple system atrophy, laryngeal or pharyngeal symptoms, or both. In patients with stridor, EMG during quiet breathing revealed persistent tonic activity in both abductor and adductor vocal cord muscles. In patients with dysphagia, the cricopharyngeal muscle s...

journal_title：Neurology

authors： Merlo IM,Occhini A,Pacchetti C,Alfonsi E

更新日期：2002-02-26 00:00:00

abstract：OBJECTIVE:To investigate whether neuronal activity-regulated pentraxin (Narp) colocalizes with hypocretin (Hcrt or orexin) in the normal human brain and to determine if Narp staining is lost in the narcoleptic human brain. BACKGROUND:Human narcolepsy is characterized by a loss of the peptide hypocretin in the hypothal...

journal_title：Neurology

authors： Blouin AM,Thannickal TC,Worley PF,Baraban JM,Reti IM,Siegel JM

更新日期：2005-10-25 00:00:00

abstract：:We present a new benign eating disorder associated with lesions involving parts of the right anterior cerebral hemisphere. This "gourmand" syndrome describes a preoccupation with food and a preference for fine eating. Two exemplary case reports illustrate this new syndrome. Analysis of the clinical and anatomical data...

journal_title：Neurology

authors： Regard M,Landis T

更新日期：1997-05-01 00:00:00

abstract：OBJECTIVE:To describe factors associated with survival in Alzheimer disease (AD) in a multiethnic, population-based longitudinal study. METHODS:AD cases were identified in the Washington Heights Inwood Columbia Aging Project, a longitudinal, community-based study of cognitive aging in Northern Manhattan. The sample co...

journal_title：Neurology

authors： Helzner EP,Scarmeas N,Cosentino S,Tang MX,Schupf N,Stern Y

更新日期：2008-11-04 00:00:00

abstract：OBJECTIVES:Using high-resolution structural MRI, we endeavored to study the relationships among APOE ε4, hippocampal subfield and stratal anatomy, and episodic memory. METHODS:Using a cross-sectional design, we studied 11 patients with Alzheimer disease dementia, 14 patients with amnestic mild cognitive impairment, an...

journal_title：Neurology

authors： Kerchner GA,Berdnik D,Shen JC,Bernstein JD,Fenesy MC,Deutsch GK,Wyss-Coray T,Rutt BK

更新日期：2014-02-25 00:00:00

abstract：:The authors report two patients with suspected brain death who required confirmatory tests other than clinical examination because of prolonged barbiturate administration for intracranial hypertension. Absence of intracranial blood flow was documented on CT angiography and confirmed by CT perfusion images. Cerebral an...

journal_title：Neurology

authors： Qureshi AI,Kirmani JF,Xavier AR,Siddiqui AM

更新日期：2004-02-24 00:00:00

abstract：OBJECTIVE:To determine the usefulness of the 14-3-3 test in patients with dementia of various causes. BACKGROUND:Recent reports have suggested that the detection of the 14-3-3 protein in the CSF of patients with Creutzfeldt--Jakob disease is a highly sensitive and specific marker of the disease that might be used as a...

journal_title：Neurology

authors： Burkhard PR,Sanchez JC,Landis T,Hochstrasser DF

更新日期：2001-06-12 00:00:00

abstract：:The authors report a double-blind, placebo-controlled, crossover study of talampanel in 49 patients with refractory partial seizures. Three doses of talampanel were investigated based on differences in patients' concomitant antiepileptic drug usage. Talampanel showed efficacy in reducing seizure frequency (p = 0.001) ...

journal_title：Neurology

authors： Chappell AS,Sander JW,Brodie MJ,Chadwick D,Lledo A,Zhang D,Bjerke J,Kiesler GM,Arroyo S

更新日期：2002-06-11 00:00:00

abstract：:We report a patient with striatonigral degeneration in whom T2-weighted MRI imaging revealed low signal and atrophy in the putamen. Neuropathologic studies confirmed putaminal atrophy and iron deposition in the MRI low signal regions. ...

journal_title：Neurology

authors： O'Brien C,Sung JH,McGeachie RE,Lee MC

更新日期：1990-04-01 00:00:00

abstract：OBJECTIVE:To evaluate the incidence, baseline characteristics, and clinical prognosis of blood-brain barrier (BBB) disruption after endovascular therapy in acute ischemic stroke patients. METHODS:A total of 220 patients treated with endovascular therapy between April 2007 and October 2011 were identified from a prospe...

journal_title：Neurology

authors： Desilles JP,Rouchaud A,Labreuche J,Meseguer E,Laissy JP,Serfaty JM,Lapergue B,Klein IF,Guidoux C,Cabrejo L,Sirimarco G,Lavallée PC,Schouman-Claeys E,Amarenco P,Mazighi M

更新日期：2013-02-26 00:00:00

abstract：OBJECTIVE:To describe and analyze etiologies, clinical presentations, therapeutic management, and outcomes of patients with acute encephalitis and identify outcome predictors. METHODS:We conducted a retrospective review of patients diagnosed with acute encephalitis at Mayo Clinic Rochester between January 2000 and Dec...

journal_title：Neurology

authors： Singh TD,Fugate JE,Rabinstein AA

更新日期：2015-01-27 00:00:00

abstract：:Fourteen patients with Alzheimer's disease were evaluated by psychometric testing, fluorodeoxyglucose positron emission tomography (PET), and EEG. They were divided into two groups according to the EEG findings. Group A (seven patients) had normal alpha backgrounds and group B (seven patients) had decreased alpha back...

journal_title：Neurology

authors： Sheridan PH,Sato S,Foster N,Bruno G,Cox C,Fedio P,Chase TN

更新日期：1988-05-01 00:00:00

abstract：OBJECTIVE:To investigate the feasibility, safety, and efficacy of a ketogenic diet (KD) for superrefractory status epilepticus (SRSE) in adults. METHODS:We performed a prospective multicenter study of patients 18 to 80 years of age with SRSE treated with a KD treatment algorithm. The primary outcome measure was signif...

journal_title：Neurology

authors： Cervenka MC,Hocker S,Koenig M,Bar B,Henry-Barron B,Kossoff EH,Hartman AL,Probasco JC,Benavides DR,Venkatesan A,Hagen EC,Dittrich D,Stern T,Radzik B,Depew M,Caserta FM,Nyquist P,Kaplan PW,Geocadin RG

更新日期：2017-03-07 00:00:00

abstract：OBJECTIVE:This methodologic study investigates if the 2-minute walk test (2MWT) can be a valid alternative to the 6-minute walk test (6MWT) to describe walking capability in patients with neuromuscular diseases. METHODS:Patients (n = 115) with different neuromuscular diseases were invited to participate on 2 test days...

journal_title：Neurology

authors： Andersen LK,Knak KL,Witting N,Vissing J

更新日期：2016-02-02 00:00:00