Molecular basis of hypokalemic myopathy caused by 17alpha-hydroxylase/17,20-lyase deficiency.

abstract：OBJECTIVE:To compare the sensitivity of structural MRI and 18F-fludeoxyglucose PET (18FDG-PET) to detect longitudinal changes in frontotemporal dementia (FTD). METHODS:Thirty patients with behavioral variant FTD (bvFTD), 7 with nonfluent/agrammatic variant primary progressive aphasia (nfvPPA), 16 with semantic variant...

journal_title：Neurology

authors： Bejanin A,Tammewar G,Marx G,Cobigo Y,Iaccarino L,Kornak J,Staffaroni AM,Dickerson BC,Boeve BF,Knopman DS,Gorno-Tempini M,Miller BL,Jagust WJ,Boxer AL,Rosen HJ,Rabinovici GD

更新日期：2020-07-14 00:00:00

abstract：:An improved agarose gel electrophoretic technique was used to fractionate serum and cerebrospinal fluid (CSF) proteins in patients with presenile dementia. The CSF electrophoretic patterns demonstrated three abnormal bands in the gamma-globulin region in five out of eight of these patients. ...

journal_title：Neurology

authors： Williams A,Papadopoulos N,Chase TN

更新日期：1980-08-01 00:00:00

abstract：:Fasciculations and cramps may occur in motor neuron disease or as part of a more benign syndrome. A man with apparently benign fasciculations and cramps for 4 years developed progressive muscle weakness and wasting. Such a previously undocumented evolution of benign fasciculations and cramps to motor neuron disease ma...

journal_title：Neurology

authors： Fleet WS,Watson RT

更新日期：1986-07-01 00:00:00

abstract：:Restless legs syndrome (RLS) involves abnormal limb sensations that diminish with motor activity, worsen at rest, have a circadian peak in expression in the evening and at night, and can severely disrupt sleep. Primary treatment is directed at CNS dopaminergic systems, particularly activation of D(2)-like (D(2), D(3),...

journal_title：Neurology

authors： Clemens S,Rye D,Hochman S

更新日期：2006-07-11 00:00:00

abstract：OBJECTIVES:The authors report the results of a prospective, placebo-controlled, randomized study to evaluate the effectiveness of 3,4-diaminopyridine (DAP) in patients with Lambert-Eaton myasthenic syndrome (LEMS) and to determine the acute and long-term side effects of DAP. METHODS:Twenty-six patients with LEMS compl...

journal_title：Neurology

authors： Sanders DB,Massey JM,Sanders LL,Edwards LJ

更新日期：2000-02-08 00:00:00

abstract：OBJECTIVE:To assess the possible abnormalities in the baroreflex modulation of both the heart and the arterial vasculature, in order to better evaluate the role of baroreflex abnormalities in the generation of the cardiovascular symptoms and complications affecting the familial dysautonomia (FD) patient. METHODS:Twent...

journal_title：Neurology

authors： Stemper B,Bernardi L,Axelrod FB,Welsch G,Passino C,Hilz MJ

更新日期：2004-10-26 00:00:00

abstract：:Three sisters with adult fucosidosis showed prominent psychomotor retardation, gargoyle features, and angiokeratoma corporis diffusum, meeting the criteria for type II fucosidosis. By histochemical and ultrastructural studies, biopsy of rectal mucosa revealed many abnormal macrophages that were filled with fucose-rich...

journal_title：Neurology

authors： Ikeda S,Kondo K,Oguchi K,Yanagisawa N,Horigome R,Murata F

更新日期：1984-04-01 00:00:00

abstract：:We describe a 43-year-old neurologically intact patient who reported episodes of diplopia and oscillopsia associated with a right-beating nystagmus and a skew deviation. These symptoms and signs were related to a left posterior epileptic EEG discharge. We suggest that these ocular motor signs derived from an ictal act...

journal_title：Neurology

authors： Galimberti CA,Versino M,Sartori I,Manni R,Martelli A,Tartara A

更新日期：1998-05-01 00:00:00

abstract：OBJECTIVE:To define the clinical and radiologic features of brainstem gliomas (BSGs) in children with neurofibromatosis type 1 (NF1). METHODS:We performed a retrospective cross-sectional study of 133 children with NF1 and concurrent BSGs cared for at 4 NF1 referral centers. BSG was determined using radiographic criter...

journal_title：Neurology

authors： Mahdi J,Shah AC,Sato A,Morris SM,McKinstry RC,Listernick R,Packer RJ,Fisher MJ,Gutmann DH

更新日期：2017-04-18 00:00:00

abstract：:Fatigue is a common but poorly understood symptom in Parkinson's disease (PD). Using previously validated scales, we asked 58 nondemented PD patients and 58 controls to fill out questionnaires assessing fatigue and depression and found that PD patients were more depressed and more fatigued than age-matched controls. A...

journal_title：Neurology

authors： Friedman J,Friedman H

更新日期：1993-10-01 00:00:00

abstract：:We previously described demyelination in the brain and subacute combined degeneration of the spinal cord in a patient with 5,10-methylenetetrahydrofolate reductase deficiency. To assess the role of methionine, S-adenosylmethionine, folate, and neurotransmitter amine metabolism in the demyelination process, we measured...

journal_title：Neurology

authors： Hyland K,Smith I,Bottiglieri T,Perry J,Wendel U,Clayton PT,Leonard JV

更新日期：1988-03-01 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 test the hypothesis that US neurologists were experiencing significant challenges with lack of personal protective equipment (PPE), rapid changes in practice, and varying institutional protocols, we conducted this survey study. The current coronavirus disease of 2019 (COVID-19) pandemic has caused widespre...

journal_title：Neurology

authors： Sharma A,Maxwell CR,Farmer J,Greene-Chandos D,LaFaver K,Benameur K

更新日期：2020-08-04 00:00:00

abstract：:Six neonates with prolonged, intractable seizures were treated with valproic acid (VPA). Each patient had received maximum doses of phenobarbital (greater than 40 micrograms/ml), and five patients received at least two additional anticonvulsants, without success. Seizure activity was controlled in five of six (83%) ca...

journal_title：Neurology

authors： Gal P,Oles KS,Gilman JT,Weaver R

更新日期：1988-03-01 00:00:00

abstract：:Our understanding of the pathogenesis of Alzheimer's disease (AD) had advanced rapidly, particularly in the area of genetics. Clinical trials of agents that offer the promise of going beyond symptomatic treatment to actually slowing the progression of disease, perhaps by enhancing the viability of neurons, are under w...

journal_title：Neurology

authors： Whitehouse PJ

更新日期：1997-05-01 00:00:00

abstract：:We tested the hypothesis that an anticardiolipin antibody (aCL) titer of > or = 10 IgG phospholipid (GPL) at the time of an index ischemic stroke is associated with an increased risk of subsequent thrombo-occlusive events or death. First-time ischemic stroke patients from the Antiphospholipid Antibodies and Stroke Stu...

journal_title：Neurology

authors：

更新日期：1997-01-01 00:00:00

abstract：:Since a parental sex effect has been reported in Huntington's disease, we looked to see whether a similar effect is apparent in adult (autosomal dominant) familial ALS. We analyzed the data for 145 patients, with an onset age range of 20 to 68 years and a known affected parent (AP), from 52 families described in the l...

journal_title：Neurology

authors： Leone M

更新日期：1991-08-01 00:00:00

abstract：:The authors identified two novel heterozygous missense transitions in the gene for the mitochondrial polymerase gammaA subunit (POLG) in a family with an autosomal recessive syndrome comprising progressive external ophthalmoplegia (PEO), polyneuropathy, ataxia, sensorineural hearing loss, and affective disorders. Thes...

journal_title：Neurology

authors： Mancuso M,Filosto M,Bellan M,Liguori R,Montagna P,Baruzzi A,DiMauro S,Carelli V

更新日期：2004-01-27 00:00:00

abstract：BACKGROUND:Expert knowledge may compensate for age-related declines in basic cognitive and sensory-motor abilities in some skill domains. We investigated the influence of age and aviation expertise (indexed by Federal Aviation Administration pilot ratings) on longitudinal flight simulator performance. METHODS:Over a 3...

journal_title：Neurology

authors： Taylor JL,Kennedy Q,Noda A,Yesavage JA

更新日期：2007-02-27 00:00:00

abstract：OBJECTIVE:To determine the effect of clinical and radiologic disease activity on the rate of thinning of the ganglion cell/inner plexiform (GCIP) layer and the retinal nerve fiber layer in patients with multiple sclerosis (MS) using optical coherence tomography (OCT). METHODS:One hundred sixty-four patients with MS an...

journal_title：Neurology

authors： Ratchford JN,Saidha S,Sotirchos ES,Oh JA,Seigo MA,Eckstein C,Durbin MK,Oakley JD,Meyer SA,Conger A,Frohman TC,Newsome SD,Balcer LJ,Frohman EM,Calabresi PA

更新日期：2013-01-01 00:00:00

abstract：:We studied performance on tests of visual neglect and left lateral gaze after caloric stimulation in 18 patients with left-sided visual neglect after strokes. Except for one patient with absent vestibulo-ocular responses, all improved during caloric stimulation on the left by cold (LC) or on the right by warm water (R...

journal_title：Neurology

authors： Rubens AB

更新日期：1985-07-01 00:00:00

abstract：BACKGROUND:Brodmann brain maps, assembled in 1909, are still in use, but understanding of their animal-human homology is uncertain. Furthermore, in 1909, Brodmann did not identify human area 12 (BA12), a location now important to understanding of frontotemporal lobar degeneration (FTLD). METHODS:We re-examined Brodman...

journal_title：Neurology

authors： Kawamura M,Miller MW,Ichikawa H,Ishihara K,Sugimoto A

更新日期：2011-05-03 00:00:00

abstract：:The authors evaluated education attainment and neuropsychological deficits in children with sickle cell disease (SCD) and silent cerebral infarcts. Children with silent infarcts had twice the rate of school difficulties as children without infarcts. Eighty percent of silent infarct cases had clinically significant cog...

journal_title：Neurology

authors： Schatz J,Brown RT,Pascual JM,Hsu L,DeBaun MR

更新日期：2001-04-24 00:00:00

abstract：BACKGROUND:Frontotemporal dementia (FTD) is currently distinguished from AD primarily on the basis of behavioral features because studies of cognition have shown negligible or inconsistent differences. However, the poor discriminability of cognitive measures may relate to reliance on imprecise clinically diagnosed grou...

journal_title：Neurology

authors： Rascovsky K,Salmon DP,Ho GJ,Galasko D,Peavy GM,Hansen LA,Thal LJ

更新日期：2002-06-25 00:00:00

abstract：OBJECTIVE:To determine the potential of detection in CSF of specific Borrelia burgdorferi antigen, OspA, as a marker of infection in neurologic Lyme disease and compare this with the detection of antibody. DESIGN:CSF from 83 neurologic patients in an area highly endemic for Lyme disease was examined prospectively for ...

journal_title：Neurology

authors： Coyle PK,Schutzer SE,Deng Z,Krupp LB,Belman AL,Benach JL,Luft BJ

更新日期：1995-11-01 00:00:00

abstract：OBJECTIVE:To investigate clinical and economic consequences following generic substitution of one vs multiple generics of topiramate (Topamax; Ortho-McNeil Neurologics, Titusville, NJ). METHODS:Medical and pharmacy claims data of Régie de l'Assurance-Maladie du Québec from January 2006 to October 2007 were used. Patie...

journal_title：Neurology

authors： Duh MS,Paradis PE,Latrémouille-Viau D,Greenberg PE,Lee SP,Durkin MB,Wan GJ,Rupnow MF,LeLorier J

更新日期：2009-06-16 00:00:00

abstract：OBJECTIVE:To investigate clinical, neuropsychological, and MRI abnormalities (gray matter atrophy [GMA] and white matter atrophy [WMA]) in surgical mesial temporal lobe epilepsy (MTLE) patients with and without familial antecedent for epilepsy. METHODS:A cohort study including 69 operated patients with unilateral MTLE...

journal_title：Neurology

authors： Yasuda CL,Morita ME,Alessio A,Pereira AR,Balthazar ML,Saúde AV,Costa AL,Costa AL,Cardoso TA,Betting LE,Guerreiro CA,Damasceno BP,Lopes-Cendes I,Tedeschi H,de Oliveira E,Cendes F

更新日期：2010-03-30 00:00:00

abstract：OBJECTIVE:The Quality Standards Subcommittee of the American Academy of Neurology and the Practice Committee of the Child Neurology Society develop practice parameters as strategies for patient management based on analysis of evidence. For this parameter, the authors reviewed available evidence on the evaluation of the...

journal_title：Neurology

authors： Lewis DW,Ashwal S,Dahl G,Dorbad D,Hirtz D,Prensky A,Jarjour I,Quality Standards Subcommittee of the American Academy of Neurology.,Practice Committee of the Child Neurology Society.

更新日期：2002-08-27 00:00:00

abstract：OBJECTIVE:Unilateral temporoparietal injury may result in an attentional deficit for stimuli presented in contralesional space. Thus, bilateral temporoparietal degeneration associated with Alzheimer disease (AD) might result in a bilateral attentional disturbance. Tests for hemispatial neglect, however, primarily asses...

journal_title：Neurology

authors： Kim EJ,Lee BH,Seo SW,Moon SY,Jung DS,Park KH,Heilman KM,Na DL

更新日期：2007-09-11 00:00:00

abstract：OBJECTIVE:To present the current terminology and natural history of neurofibromatosis 1 (NF1) cutaneous neurofibromas (cNF). METHODS:NF1 experts from various research and clinical backgrounds reviewed the terms currently in use for cNF as well as the clinical, histologic, and radiographic features of these tumors usin...

journal_title：Neurology

authors： Ortonne N,Wolkenstein P,Blakeley JO,Korf B,Plotkin SR,Riccardi VM,Miller DC,Huson S,Peltonen J,Rosenberg A,Carroll SL,Verma SK,Mautner V,Upadhyaya M,Stemmer-Rachamimov A

更新日期：2018-07-10 00:00:00