Quantitative evaluation of the effects of L-dopa in torsion dystonia: a case report.

abstract：:Gilles de la Tourette's syndrome (TS) is a familial disorder that is often exacerbated by stress or fatigue. Here we present a family of a TS proband that has several members with obsessive-compulsive symptoms, a bleeding disorder, and an unusual sensitivity to heat. The proband, who is affected by all of these traits...

journal_title：Neurology

authors： Lombroso PJ,Mack G,Scahill L,King RA,Leckman JF

更新日期：1991-12-01 00:00:00

abstract：:X-linked spinal and bulbar muscular atrophy (SBMA) is usually associated with feminization and hypogonadism. We were unable to find androgen receptor (AR) in the scrotal skin of three patients with SBMA, and propose that AR abnormality is the cause of the disease. ...

journal_title：Neurology

authors： Matsuura T,Demura T,Aimoto Y,Mizuno T,Moriwaka F,Tashiro K

更新日期：1992-09-01 00:00:00

abstract：OBJECTIVES:To investigate longitudinally the profile of cognitive impairment in nondemented patients with ALS. METHODS:Twenty nondemented patients with ALS and 18 controls were interviewed at two time points separated by a 6-month interval. The extensive battery was designed to accommodate the range of physical disabi...

journal_title：Neurology

authors： Abrahams S,Leigh PN,Goldstein LH

更新日期：2005-04-12 00:00:00

abstract：:Proteins from single frozen sections of human muscle were separated by two-dimensional gel electrophoresis and detected by fluorography or Coomassie Blue staining. The major proteins were identical in different normal muscles obtained from either sex at different ages, and in Duchenne and myotonic dystrophy samples. C...

journal_title：Neurology

authors： Giometti CS,Danon MJ,Anderson NG

更新日期：1983-09-01 00:00:00

abstract：OBJECTIVE:Several lines of evidence suggest that pathologic changes underlying Alzheimer disease (AD) begin years prior to the clinical expression of the disease, underscoring the need for studies of cognitively healthy adults to capture these early changes. The overall goal of the current study was to map the cortical...

journal_title：Neurology

authors： Rodrigue KM,Kennedy KM,Devous MD Sr,Rieck JR,Hebrank AC,Diaz-Arrastia R,Mathews D,Park DC

更新日期：2012-02-07 00:00:00

abstract：:A patient with clinical and radiographic findings initially suggesting a neoplasm was diagnosed as having Hodgkin disease. Computerized axial tomography demonstrated profound diffuse decreased density similar to that seen in cases of cerebral edema or leukomalacia. Cerebral angiography showed blood vessels with a bead...

journal_title：Neurology

authors： Rajjoub RK,Wood JH,Ommaya AK

更新日期：1977-06-01 00:00:00

abstract：OBJECTIVE:To investigate the possible association of persistent enterovirus (EV) infection with the development of ALS. BACKGROUND:Although ALS is a clinically well-defined motor neuron disease, little is known about the etiology and pathogenesis of the sporadic cases. Among the different causes that have been hypothe...

journal_title：Neurology

authors： Berger MM,Kopp N,Vital C,Redl B,Aymard M,Lina B

更新日期：2000-01-11 00:00:00

abstract：BACKGROUND:Treatment with 3-hydroxy-3-methylglutaryl-coenzyme-A reductase inhibitors ("statins") has been associated in some epidemiologic studies with reduced risk of Alzheimer disease (AD). However, direct evidence of statin effects on neuropathologic markers of AD is lacking. We investigated whether antecedent stati...

journal_title：Neurology

authors： Li G,Larson EB,Sonnen JA,Shofer JB,Petrie EC,Schantz A,Peskind ER,Raskind MA,Breitner JC,Montine TJ

更新日期：2007-08-28 00:00:00

abstract：:Using the centralized diagnostic data resource for the population of Rochester, Minnesota, we determined the prevalence of medically diagnosed dementia for this community. There were 289 individuals with dementia who were residing in Rochester on January 1, 1975: 208 women and 81 men. The overall age- and sex-adjusted...

journal_title：Neurology

authors： Kokmen E,Beard CM,Offord KP,Kurland LT

更新日期：1989-06-01 00:00:00

abstract：OBJECTIVE:To assess the genetic contribution of TBK1, a gene implicated in amyotrophic lateral sclerosis (ALS), frontotemporal dementia (FTD), and FTD-ALS, in Belgian FTD and ALS patient cohorts containing a significant part of genetically unresolved patients. METHODS:We sequenced TBK1 in a hospital-based cohort of 48...

journal_title：Neurology

authors： Gijselinck I,Van Mossevelde S,van der Zee J,Sieben A,Philtjens S,Heeman B,Engelborghs S,Vandenbulcke M,De Baets G,Bäumer V,Cuijt I,Van den Broeck M,Peeters K,Mattheijssens M,Rousseau F,Vandenberghe R,De Jonghe P,Cras P

更新日期：2015-12-15 00:00:00

abstract：:Conditioning stimuli to the coronal gyrus or periventricular gray matter inhibit the activity of spinal trigeminal neurons. Valproate decreased the corticofugal inhibition of the spinal trigeminal nucleus, as did ethosuximide, trimethadione, and imipramine. Valproate and ethosuximide also decreased the periventricular...

journal_title：Neurology

authors： Fromm GH,Glass JD,Chattha AS,Martinez AJ,Silverman M

更新日期：1980-02-01 00:00:00

abstract：:Rapsyn mutations in 16 unrelated patients with a congenital/hereditary myasthenic syndrome were identified, and a mutation (N88K) common to each of them was found. Two distinct phenotypes were noted: early and late onset. The former is frequently associated with arthrogryposis multiplex congenita and life-threatening ...

journal_title：Neurology

authors： Burke G,Cossins J,Maxwell S,Owens G,Vincent A,Robb S,Nicolle M,Hilton-Jones D,Newsom-Davis J,Palace J,Beeson D

更新日期：2003-09-23 00:00:00

abstract：:We attempted to define the role of subtle changes in the normal-appearing white matter (NAWM) in the development of disability in multiple sclerosis (MS). Twenty-seven clinically definite MS patients with either relapsing-remitting or chronic-progressive courses and 10 sex- and age-matched controls entered the study. ...

journal_title：Neurology

authors： Filippi M,Campi A,Dousset V,Baratti C,Martinelli V,Canal N,Scotti G,Comi G

更新日期：1995-03-01 00:00:00

abstract：OBJECTIVE:To study the accuracy of the ABCD2 score in predicting early stroke risk following TIA and to model post-test probability of stroke for varying cutoff scores and baseline stroke risk. METHODS:Medline, PubMed, Embase, conference proceedings, and manuscript references up to October 2010 were searched for studi...

journal_title：Neurology

authors： Sanders LM,Srikanth VK,Blacker DJ,Jolley DJ,Cooper KA,Phan TG

更新日期：2012-09-04 00:00:00

abstract：OBJECTIVE:To investigate the risk factors of neutralizing antibody (NAB)-induced complete secondary treatment failure (cSTF) during long-term botulinum neurotoxin (BoNT) treatment in various neurologic indications. METHODS:This monocenter retrospective cohort study analyzed the data of 471 patients started on BoNT the...

journal_title：Neurology

authors： Walter U,Mühlenhoff C,Benecke R,Dressler D,Mix E,Alt J,Wittstock M,Dudesek A,Storch A,Kamm C

更新日期：2020-05-19 00:00:00

abstract：:Recent clinical neuropathologic reports are inconsistent with previous models of how pontine neural circuits generate saccadic eye movements. We present a hypothetical explanation of these and other clinical and experimental findings based on a new model that accurately predicts the eye signs in pontine lesions. ...

journal_title：Neurology

authors： Kaneko CR

更新日期：1989-07-01 00:00:00

abstract：:The prevalence of spontaneous lingual-facial-buccal movements was determined in 661 patients between the ages of 50 and 79 without neuroleptic exposure or known CNS disease. The prevalence was 0.8% between ages 50 and 59, 6% between ages 60 and 69, and 7.8% between ages 70 and 79. ...

journal_title：Neurology

authors： Klawans HL,Barr A

更新日期：1982-05-01 00:00:00

abstract：OBJECTIVE:To identify the disease-causing gene of a family with upper limb predominant, slowly progressive amyotrophic lateral sclerosis (ALS), which was diagnosed as flail arm syndrome (FAS). METHODS:After causation of 24 known ALS genes was excluded by targeted next-generation sequencing, whole-exome sequencing was ...

journal_title：Neurology

authors： Liu Q,Shu S,Wang RR,Liu F,Cui B,Guo XN,Lu CX,Li XG,Liu MS,Peng B,Cui LY,Zhang X

更新日期：2016-10-25 00:00:00

abstract：OBJECTIVE:To assess efficacy and safety of once-daily 8 or 12 mg perampanel, a noncompetitive α-amino-3-hydroxy-5-methyl-4-isoxazole-propionic acid (AMPA) receptor antagonist, when added to concomitant antiepileptic drugs (AEDs) in the treatment of drug-resistant partial-onset seizures. METHODS:This was a multicenter,...

journal_title：Neurology

authors： French JA,Krauss GL,Biton V,Squillacote D,Yang H,Laurenza A,Kumar D,Rogawski MA

更新日期：2012-08-07 00:00:00

abstract：OBJECTIVE:To analyze the oral motor, speech, and language phenotype in 20 children and adults with Dravet syndrome (DS) associated with mutations in SCN1A. METHODS:Fifteen verbal and 5 minimally verbal DS patients with SCN1A mutations (aged 15 months-28 years) underwent a tailored assessment battery. RESULTS:Speech w...

journal_title：Neurology

authors： Turner SJ,Brown A,Arpone M,Anderson V,Morgan AT,Scheffer IE

更新日期：2017-02-21 00:00:00

abstract：:Proton nuclear magnetic resonance spectroscopy is a noninvasive technique allowing the localized, in vivo detection of proton-containing brain metabolites. We used this technique to study eight patients with cerebral infarction or ischemia. A stimulated echo-pulse sequence with chemical shift imaging was used to acqui...

journal_title：Neurology

authors： Ford CC,Griffey RH,Matwiyoff NA,Rosenberg GA

更新日期：1992-07-01 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：OBJECTIVE:To determine whether objective and quantitative assessment of dysarthria and dysphagia in spinocerebellar ataxia type 2 (SCA2), specifically at pre-ataxic and early disease phases, can act as sensitive disease markers. METHODS:Forty-six individuals (16 with pre-ataxic SCA2, 14 with early-stage ataxic SCA2, a...

journal_title：Neurology

authors： Vogel AP,Magee M,Torres-Vega R,Medrano-Montero J,Cyngler MP,Kruse M,Rojas S,Cubillos SC,Canento T,Maldonado F,Vazquez-Mojena Y,Ilg W,Rodríguez-Labrada R,Velázquez-Pérez L,Synofzik M

更新日期：2020-07-14 00:00:00

abstract：OBJECTIVE:The NIH Toolbox for Assessment of Neurological and Behavioral Function (NIH Toolbox) is a comprehensive battery of brief assessment tools. The purpose of this article is to describe plans to establish normative reference values for the NIH Toolbox measures. METHODS:A large sample will be obtained from the US...

journal_title：Neurology

authors： Beaumont JL,Havlik R,Cook KF,Hays RD,Wallner-Allen K,Korper SP,Lai JS,Nord C,Zill N,Choi S,Yost KJ,Ustsinovich V,Brouwers P,Hoffman HJ,Gershon R

更新日期：2013-03-12 00:00:00

abstract：:We evaluated ventilation during cycle exercise in four men lacking myophosphorylase. In submaximal exercise of similar relative intensity, ventilation was higher relative to oxygen uptake in McArdle patients than in normal men. The exercise ventilatory response returned to normal after glucose infusion, by fasting to ...

journal_title：Neurology

authors： Haller RG,Lewis SF

更新日期：1986-05-01 00:00:00

abstract：:Juvenile-onset dystonia that improves after levodopa may occur in both dopa-responsive dystonia (DRD) and juvenile parkinsonism (JP), clinically similar conditions with different prognoses and management goals. The authors show normal striatal uptake of the dopamine transporter ligand FP-CIT with SPECT in a clinically...

journal_title：Neurology

authors： O'Sullivan JD,Costa DC,Gacinovic S,Lees AJ

更新日期：2001-01-23 00:00:00

abstract：OBJECTIVE:This study assessed the tissue integrity of major cervical cord tracts by using diffusion tensor imaging (DTI) to determine the relationship with specific clinical functions carried by those tracts. METHODS:This was a cross-sectional study of 37 patients with multiple sclerosis or neuromyelitis optica with r...

journal_title：Neurology

authors： Naismith RT,Xu J,Klawiter EC,Lancia S,Tutlam NT,Wagner JM,Qian P,Trinkaus K,Song SK,Cross AH

更新日期：2013-06-11 00:00:00

abstract：:Ullrich disease is a form of congenital muscular dystrophy characterized clinically by generalized muscle weakness, contractures of the proximal joints, and hyperflexibility of the distal joints from birth or early infancy. Recently, mutations of the collagen VI gene have been associated with Ullrich disease. The auth...

journal_title：Neurology

authors： Ishikawa H,Sugie K,Murayama K,Ito M,Minami N,Nishino I,Nonaka I

更新日期：2002-09-24 00:00:00

abstract：OBJECTIVE:To report pathologic findings in 124 Australian and North American cases of primary nemaline myopathy. METHODS:Results of 164 muscle biopsies from 124 Australian and North American patients with primary nemaline myopathy were reviewed, including biopsies from 19 patients with nemaline myopathy due to alpha-a...

journal_title：Neurology

authors： Ryan MM,Ilkovski B,Strickland CD,Schnell C,Sanoudou D,Midgett C,Houston R,Muirhead D,Dennett X,Shield LK,De Girolami U,Iannaccone ST,Laing NG,North KN,Beggs AH

更新日期：2003-02-25 00:00:00

abstract：:Charcot-Marie-Tooth disease type 1 (CMT1) is associated with atrophy and degeneration of peripheral nerve axons in addition to prominent changes in the structure of Schwann cells. We have investigated the composition of the axonal cytoskeleton in sural nerve biopsies from patients with CMT1. Compared to controls, CMT1...

journal_title：Neurology

authors： Watson DF,Nachtman FN,Kuncl RW,Griffin JW

更新日期：1994-12-01 00:00:00