The video head impulse test: diagnostic accuracy in peripheral vestibulopathy.

abstract：:The clinical and genetic features of three non-Portuguese and non-Japanese patients with aprataxin gene mutations are reported. Patient 1 came from Italy and presented with typical ataxia with ocular motor apraxia (OMA). She was homozygous for the W279X nonsense mutation, which is associated with the Portuguese foundi...

journal_title：Neurology

authors： Tranchant C,Fleury M,Moreira MC,Koenig M,Warter JM

更新日期：2003-03-11 00:00:00

abstract：OBJECTIVE:To assess whether genetic subgroups in recent amyotrophic lateral sclerosis (ALS) trials responded to treatment with lithium carbonate, but that the treatment effect was lost in a large cohort of nonresponders. METHODS:Individual participant data were obtained from 3 randomized trials investigating the effic...

journal_title：Neurology

authors： van Eijk RPA,Jones AR,Sproviero W,Shatunov A,Shaw PJ,Leigh PN,Young CA,Shaw CE,Mora G,Mandrioli J,Borghero G,Volanti P,Diekstra FP,van Rheenen W,Verstraete E,Eijkemans MJC,Veldink JH,Chio A,Al-Chalabi A,van den Berg

更新日期：2017-10-31 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：: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：BACKGROUND:Extrapyramidal signs (EPS) are common in Alzheimer disease (AD) and increase in prevalence as AD advances. The neuropathologic substrate responsible for EPS in AD remains to be fully characterized. METHODS:Subjects had a clinical diagnosis of AD confirmed by neuropathologic examination. EPS during life were...

journal_title：Neurology

authors： Burns JM,Galvin JE,Roe CM,Morris JC,McKeel DW

更新日期：2005-04-26 00:00:00

abstract：OBJECTIVES:Although small fiber neuropathy (SFN) often occurs without apparent cause, the molecular etiology of idiopathic SFN (I-SFN) has remained enigmatic. Sodium channel Na(v)1.7 is preferentially expressed within dorsal root ganglion (DRG) and sympathetic ganglion neurons and their small-diameter peripheral axons....

journal_title：Neurology

authors： Han C,Hoeijmakers JG,Ahn HS,Zhao P,Shah P,Lauria G,Gerrits MM,te Morsche RH,Dib-Hajj SD,Drenth JP,Faber CG,Merkies IS,Waxman SG

更新日期：2012-05-22 00:00:00

abstract：:The authors sought to determine in a retrospective analysis whether carotid plaque soft TD on CT is associated with recent ischemic neurologic events. Among 141 patients (99 asymptomatic), 106 plaques with more than 50% stenosis were selected for density measurements. They found an odds ratio for neurologic events ass...

journal_title：Neurology

authors： Serfaty JM,Nonent M,Nighoghossian N,Rouhart F,Derex L,Rotaru C,Chirossel P,Thabut G,Guias B,Heautot JF,Gouny P,de la Vega A,Pachai C,Ecochard R,Villard J,Douek PC,CARMEDAS Study Group.

更新日期：2006-01-10 00:00:00

abstract：BACKGROUND:In cerebral small vessel disease, the core MRI findings include white matter lesions (WML) and lacunar infarcts. While the clinical significance of WML is better understood, the contribution of lacunes to the rate of cognitive decline has not been established. This study investigated whether incident lacunes...

journal_title：Neurology

authors： Jokinen H,Gouw AA,Madureira S,Ylikoski R,van Straaten EC,van der Flier WM,Barkhof F,Scheltens P,Fazekas F,Schmidt R,Verdelho A,Ferro JM,Pantoni L,Inzitari D,Erkinjuntti T,LADIS Study Group.

更新日期：2011-05-31 00:00:00

abstract：:We have demonstrated the reliability of a noninvasive method for successfully localizing the intracranial origin of the EEG. The dipole localization method (DLM) is a computer-assisted, mathematical method based on electrical field theory and is similar to localization methods currently used by electrocardiologists. I...

journal_title：Neurology

authors： Smith DB,Sidman RD,Flanigin H,Henke J,Labiner D

更新日期：1985-12-01 00:00:00

abstract：:We report two conjugal cases of amyotrophic lateral sclerosis (ALS) occurring between 1977 and 1991 in southern France (Languedoc-Roussillon). Although conjugal ALS may occur by chance, the description of two cases in the same area points to a role of environmental or genetic factors in the etiology of the disease. ...

journal_title：Neurology

authors： Camu W,Cadilhac J,Billiard M

更新日期：1994-03-01 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：OBJECTIVES:More than 30 different rare mutations, including copy number variants (CNVs), in the amyloid precursor protein gene (APP) cause early-onset familial Alzheimer disease (EOFAD), whereas the contribution of common APP variants to disease risk remains controversial. In this study we systematically assessed the r...

journal_title：Neurology

authors： Hooli BV,Mohapatra G,Mattheisen M,Parrado AR,Roehr JT,Shen Y,Gusella JF,Moir R,Saunders AJ,Lange C,Tanzi RE,Bertram L

更新日期：2012-04-17 00:00:00

abstract：:We compared MRI and CT in a study of 175 patients; 87 infarcts within a week, 40 from 1 to 40 weeks, 25 a year after onset, and 23 hemorrhages, 18 within 2 weeks and 5 in 4 to 8 weeks. Fifty-nine infarcts and eight hemorrhages had sequential scanning. MRI is more sensitive than CT in the early detection of cerebral in...

journal_title：Neurology

authors： Kertesz A,Black SE,Nicholson L,Carr T

更新日期：1987-10-01 00:00:00

abstract：OBJECTIVE:To study activin signaling and its blockade in sporadic inclusion body myositis (sIBM) through translational studies and a randomized controlled trial. METHODS:We measured transforming growth factor β signaling by SMAD2/3 phosphorylation in muscle biopsies of 50 patients with neuromuscular disease (17 with s...

journal_title：Neurology

authors： Amato AA,Sivakumar K,Goyal N,David WS,Salajegheh M,Praestgaard J,Lach-Trifilieff E,Trendelenburg AU,Laurent D,Glass DJ,Roubenoff R,Tseng BS,Greenberg SA

更新日期：2014-12-09 00:00:00

abstract：:We performed magnetic resonance imaging (MRI), before and after the administration of gadolinium-DTPA (Gd-DTPA), in 23 patients with medically refractory partial epilepsy who subsequently had surgical treatment for their seizure disorder. In most patients, 61%, unenhanced and enhanced MRI studies were negative. In 26%...

journal_title：Neurology

authors： Cascino GD,Hirschorn KA,Jack CR,Sharbrough FW

更新日期：1989-08-01 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:To develop a simple imaging rule to predict neurodevelopmental outcomes at 4.5 years in a cohort of preterm neonates with white matter injury (WMI) based on lesion location and examine whether clinical variables enhance prediction. METHODS:Sixty-eight preterm neonates born 24-32 weeks' gestation (median 27.7...

journal_title：Neurology

authors： Cayam-Rand D,Guo T,Grunau RE,Benavente-Fernández I,Synnes A,Chau V,Branson H,Latal B,McQuillen P,Miller SP

更新日期：2019-09-24 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：:A group of 204 muscular dystrophy patients were screened for immunohistochemical and biochemical alpha-sarcoglycan defect and their DNA was analyzed for pathogenetic mutation in the four sarcoglycan genes. We identified 21 patients with alpha-, beta-, or gamma-sarcoglycan gene mutations. Patients with alpha-sarcoglyca...

journal_title：Neurology

authors： Angelini C,Fanin M,Freda MP,Duggan DJ,Siciliano G,Hoffman EP

更新日期：1999-01-01 00:00:00

abstract：OBJECTIVE:To investigate whether the correlation of age and sex with the risk of recurrence and death seen in patients with previous ischemic stroke is also evident in patients with embolic stroke of undetermined source (ESUS). METHODS:We pooled datasets of 11 stroke registries from Europe and America. ESUS was define...

journal_title：Neurology

authors： Ntaios G,Lip GYH,Vemmos K,Koroboki E,Manios E,Vemmou A,Rodríguez-Campello A,Cuadrado-Godia E,Roquer J,Arnao V,Caso V,Paciaroni M,Diez-Tejedor E,Fuentes B,Pérez Lucas J,Arauz A,Ameriso SF,Pertierra L,Gómez-Schneider M

更新日期：2017-08-08 00:00:00

abstract：OBJECTIVE:To identify the genetic and physiologic basis for recessive myasthenic congenital myopathy in 2 families, suggestive of a channelopathy involving the sodium channel gene, SCN4A. METHODS:A combination of whole exome sequencing and targeted mutation analysis, followed by voltage-clamp studies of mutant sodium ...

journal_title：Neurology

authors： Elia N,Palmio J,Castañeda MS,Shieh PB,Quinonez M,Suominen T,Hanna MG,Männikkö R,Udd B,Cannon SC

更新日期：2019-03-26 00:00:00

abstract：:The most consistent electroencephalographic finding in 16 cases of Sturge-Weber syndrome was a unilateral reduction of background amplitude in the waking record. Comparable asymmetries were noted in those patients in whom sleep recording also was done. Physiologic responses (to hyperventilation and photic driving) usu...

journal_title：Neurology

authors： Brenner RP,Sharbrough FW

更新日期：1976-07-01 00:00:00

abstract：BACKGROUND:The neurodegenerative process in Alzheimer's disease (AD) and in the Lewy body variant of AD (LBV) patients is characterized by cholinergic dysfunction and deposition of amyloid beta-peptide (Abeta) 1-40 and 1-42; however, the differential effects of Abeta species on the cholinergic system are not completely...

journal_title：Neurology

authors： Masliah E,Alford M,Adame A,Rockenstein E,Galasko D,Salmon D,Hansen LA,Thal LJ

更新日期：2003-07-22 00:00:00

abstract：:A right-handed woman with independent left- and right-sided temporal lobe discharges was studied by continuous EEG and videotape monitoring for 3 weeks. Changes in affect were noted in the immediate and extended postictal periods and varied with the side of discharge. After a left-sided discharge, she became globally ...

journal_title：Neurology

authors： Hurwitz TA,Wada JA,Kosaka BD,Strauss EH

更新日期：1985-09-01 00:00:00

abstract：:When 251 relapsing-remitting patients with multiple sclerosis were randomized to receive daily subcutaneous injections of glatiramer acetate, previously called copolymer 1 (Copaxone; n = 125) or placebo (n = 126) for 24 months, there were no laboratory abnormalities associated with glatiramer acetate treatment and it ...

journal_title：Neurology

authors： Johnson KP,Brooks BR,Cohen JA,Ford CC,Goldstein J,Lisak RP,Myers LW,Panitch HS,Rose JW,Schiffer RB,Vollmer T,Weiner LP,Wolinsky JS

更新日期：1998-03-01 00:00:00

abstract：:Subsequent to publication of the NINDS t-PA Stroke Study results, we sought to determine the proportion of patients eligible for and receiving intravenous tissue plasminogen activator (t-PA) at an active acute stroke treatment center. Over a 12-month period there were 185 stroke code activations. Of these, 134 involve...

journal_title：Neurology

authors： Zweifler RM,Brody ML,Graves GC,U TT,Drinkard R,Cunningham S,Rothrock JF

更新日期：1998-02-01 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：OBJECTIVE:The purpose of this study was to develop an algorithm incorporating MRI metrics to classify patients with mild traumatic brain injury (mTBI) and controls. METHODS:This was an institutional review board-approved, Health Insurance Portability and Accountability Act-compliant prospective study. We recruited pat...

journal_title：Neurology

authors： Lui YW,Xue Y,Kenul D,Ge Y,Grossman RI,Wang Y

更新日期：2014-09-30 00:00:00

abstract：OBJECTIVE:The diagnosis of psychogenic nonepileptic seizures (PNES) can be challenging. In the absence of a gold standard to verify the reliability of the diagnosis by EEG-video, we sought to assess the interrater reliability of the diagnosis using EEG-video recordings. METHODS:Patient samples consisted of 22 unselect...

journal_title：Neurology

authors： Benbadis SR,LaFrance WC Jr,Papandonatos GD,Korabathina K,Lin K,Kraemer HC,NES Treatment Workshop.

更新日期：2009-09-15 00:00:00

abstract：:We evaluated a new magnetic resonance (MR)-based technique for performing volumetric measurements of temporal lobe structures. The technique was designed to assist in making the clinical diagnosis of dementia of the Alzheimer type (DAT). We chose specific anatomic regions of interest because of their known involvement...

journal_title：Neurology

authors： Jack CR Jr,Petersen RC,O'Brien PC,Tangalos EG

更新日期：1992-01-01 00:00:00