Mevalonate kinase deficiency: Evidence for a phenotypic continuum.

abstract：:We detected crossed cerebellar as well as uncrossed basal ganglia and thalamic diaschisis in Alzheimer's disease by positron emission tomography (PET) using 18F-fluorodeoxyglucose. We studied a series of 26 consecutive, clinically diagnosed Alzheimer cases, including 6 proven by later autopsy, and compared them with 9...

journal_title：Neurology

authors： Akiyama H,Harrop R,McGeer PL,Peppard R,McGeer EG

更新日期：1989-04-01 00:00:00

abstract：OBJECTIVE:The aim of this study was to clarify myocardial involvement and its clinical implications in subjects with spinal and bulbar muscular atrophy (SBMA), a neuromuscular disease affecting both neuronal and nonneuronal tissues. METHODS:Two independent cardiologists evaluated ECGs from a total of 144 consecutive s...

journal_title：Neurology

authors： Araki A,Katsuno M,Suzuki K,Banno H,Suga N,Hashizume A,Mano T,Hijikata Y,Nakatsuji H,Watanabe H,Yamamoto M,Makiyama T,Ohno S,Fukuyama M,Morimoto S,Horie M,Sobue G

更新日期：2014-05-20 00:00:00

abstract：OBJECTIVE:To evaluate published evidence of efficacy and safety of pharmacologic treatments for childhood spasticity due to cerebral palsy. METHODS:A multidisciplinary panel systematically reviewed relevant literature from 1966 to July 2008. RESULTS:For localized/segmental spasticity, botulinum toxin type A is establ...

journal_title：Neurology

authors： Quality Standards Subcommittee of the American Academy of Neurology and the Practice Committee of the Child Neurology Society.,Delgado MR,Hirtz D,Aisen M,Ashwal S,Fehlings DL,McLaughlin J,Morrison LA,Shrader MW,Tilton A,Vargus-Adams

更新日期：2010-01-26 00:00:00

abstract：OBJECTIVE:To validate the ability of a specifically developed cognitive risk score to identify patients at risk of poststroke neurocognitive disorders (NCDs) who are eligible for a comprehensive cognitive assessment. METHODS:After assessing 404 patients (infarct 91.3%) in the Groupe de Réflexion pour l'Evaluation Cogn...

journal_title：Neurology

authors： Godefroy O,Yaïche H,Taillia H,Bompaire F,Nédélec-Ciceri C,Bonnin C,Varvat J,Vincent-Grangette F,Diouf M,Mas JL,Canaple S,Lamy C,Arnoux A,Leclercq C,Tasseel-Ponche S,Roussel M,Barbay M,GRECogVASC Study Group.

更新日期：2018-11-20 00:00:00

abstract：BACKGROUND:The topodiagnostic value and specificity of nystagmus in patients with mesencephalic lesions and its relation to tonic torsional deficits and vertical saccade deficits is controversial and anecdotal. METHODS:The authors examined 11 patients with vascular MRI-identified mesencephalic lesions and clinical evi...

journal_title：Neurology

authors： Helmchen C,Rambold H,Kempermann U,Büttner-Ennever JA,Büttner U

更新日期：2002-12-24 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:To evaluate the effects of mitoxantrone (Mx) in progressive multiple sclerosis (MS) on MRI. METHODS:A total of 194 patients with worsening relapsing-remitting or secondary progressive MS were treated with Mx 12 mg/m2 (n = 34), Mx 5 mg/m2 (n = 40), or placebo (n = 36) at 3-month intervals IV over a 2-year per...

journal_title：Neurology

authors： Krapf H,Morrissey SP,Zenker O,Zwingers T,Gonsette R,Hartung HP,MIMS Study Group.

更新日期：2005-09-13 00:00:00

abstract：BACKGROUND:The major histocompatibility complex (MHC) has been consistently associated with susceptibility to MS and the course of several other human autoimmune diseases. A putative association between the course and severity of MS and the MHC remains controversial. METHODS:DR and DQ genotyping by either restriction ...

journal_title：Neurology

authors： Weinshenker BG,Santrach P,Bissonet AS,McDonnell SK,Schaid D,Moore SB,Rodriguez M

更新日期：1998-09-01 00:00:00

abstract：:We evaluated the accuracy and interobserver variability of selected ictal and postictal behavioral changes. Three observers, blinded to clinical history, EEG, and side of surgical resection, analyzed videotapes of 166 seizures in 38 patients, looking for lateralizing signs. Twenty-seven patients with temporal lobe res...

journal_title：Neurology

authors： Chee MW,Kotagal P,Van Ness PC,Gragg L,Murphy D,Lüders HO

更新日期：1993-12-01 00:00:00

abstract：OBJECTIVE:In this study, we compared a cognition-specific computer-based cognitive training program with a motion-controlled computer sports game that is not cognition-specific for their ability to enhance cognitive performance in various cognitive domains in patients with Parkinson disease (PD). METHODS:Patients with...

journal_title：Neurology

authors： Zimmermann R,Gschwandtner U,Benz N,Hatz F,Schindler C,Taub E,Fuhr P

更新日期：2014-04-08 00:00:00

abstract：OBJECTIVES:Compensatory processes involving the recruitment of additional cerebral areas can limit cognitive impairment caused by brain damage as revealed by fMRI. Multiple sclerosis (MS) is characterized by frequent cognitive deficiencies and diffuse brain damage. Understanding the missing or disturbed processes resul...

journal_title：Neurology

authors： Bonnet MC,Allard M,Dilharreguy B,Deloire M,Petry KG,Brochet B

更新日期：2010-10-05 00:00:00

abstract：:We assessed the severity and temporal profile of distant neuromuscular effects from a single dose (280 units) of botulinum neurotoxin injected into neck muscles for torticollis. We performed single-fiber EMG studies on the biceps brachii of six patients to measure jitter (20 pairs) and fiber density on the initial tre...

journal_title：Neurology

authors： Olney RK,Aminoff MJ,Gelb DJ,Lowenstein DH

更新日期：1988-11-01 00:00:00

abstract：:Assay of anti-striated muscle antibodies (StrAb) is used as a diagnostic test for thymoma in individuals with myasthenia gravis. Unfortunately, false positive results are common, and their effect on test accuracy is magnified by the relatively low frequency of thymoma in myasthenics. We estimated the predictive values...

journal_title：Neurology

authors： Lanska DJ

更新日期：1991-04-01 00:00:00

abstract：OBJECTIVE:To evaluate differences in cerebrovascular reactivity (CVR) to mild hypercapnia in obese/overweight individuals with and without insulin resistance (IR) compared to comparable lean controls. METHODS:A total of 60 cognitively normal participants (20 lean controls and 24 obese/overweight individuals with and 1...

journal_title：Neurology

authors： Frosch OH,Yau PL,Osorio RS,Rusinek H,Storey P,Convit A

更新日期：2017-07-18 00:00:00

abstract：OBJECTIVE:This study correlated the extent of abnormalities detected by different magnetic resonance imaging (MRI) techniques [proton density (PD)-weighted, T1-weighted, and magnetization transfer imaging (MTI)] with the overall cognitive, frontal lobe, and memory impairments in patients with MS. PATIENTS:There were 3...

journal_title：Neurology

authors： Rovaris M,Filippi M,Falautano M,Minicucci L,Rocca MA,Martinelli V,Comi G

更新日期：1998-06-01 00:00:00

abstract：BACKGROUND:Treatment of aneurysmal subarachnoid hemorrhage (SAH) has changed substantially over the last 25 years but there is a lack of reliable population-based data on whether case-fatality or functional outcomes have improved. METHODS:We determined changes in the standardized incidence and outcome of SAH in the sa...

journal_title：Neurology

authors： Lovelock CE,Rinkel GJ,Rothwell PM

更新日期：2010-05-11 00:00:00

abstract：OBJECTIVE:To identify phenotypic features of febrile seizures that can be used to reduce heterogeneity and thereby increase power in linkage analysis. BACKGROUND:Despite exciting discoveries in several rare pedigrees, the genetic basis of common febrile seizures remains a mystery. The major drawback of studying common...

journal_title：Neurology

authors： Pal DK,Kugler SL,Mandelbaum DE,Durner M

更新日期：2003-02-11 00:00:00

abstract：:The authors report an autosomal dominant episodic ataxia that is clinically distinct from the other episodic ataxias. Vestibular ataxia, vertigo, tinnitus, and interictal myokymia are prominent; attacks are diminished by acetazolamide. Linkage analyses of markers flanking the EA1 and EA2 loci demonstrate genetic exclu...

journal_title：Neurology

authors： Steckley JL,Ebers GC,Cader MZ,McLachlan RS

更新日期：2001-10-23 00:00:00

abstract：OBJECTIVE:To investigate whether cognitive function is related to incidence of stroke. METHODS:A population-based cohort of 1551 subjects with no clinical history or signs of stroke, age 75 years and over at baseline, were followed up for 3 years. Individuals with a first-ever stroke event that was recorded in the Sto...

journal_title：Neurology

authors： Zhu L,Fratiglioni L,Guo Z,Winblad B,Viitanen M

更新日期：2000-06-13 00:00:00

abstract：:CSF lymphocyte subpopulations of eight patients with neurosarcoidosis were examined. CSF or CT was abnormal in all. The CSF T4/T8 (helper/suppressor) ratio was elevated at 6.8 and 7.6 in two patients; in one, there were only CSF T4 cells. The ratio was normal in five patients. ...

journal_title：Neurology

authors： Stern BJ,Griffin DE,Luke RA,Krumholz A,Johns CJ

更新日期：1987-05-01 00:00:00

abstract：:Concepts of pathogenesis in Parkinson's disease (PD) have been based on attempts to understand the mechanisms responsible for nigral dopaminergic cell death. Pathogenesis has been proposed to involve oxidative and nitrative stress, excitotoxicity, inflammation, mitochondrial dysfunction, and altered proteolysis. These...

journal_title：Neurology

authors： Jenner P,Olanow CW

更新日期：2006-05-23 00:00:00

abstract：:Coenzyme Q10 (CoQ10) transfers electrons from complexes I and II of the mitochondrial respiratory chain to complex III. There is one published report of human CoQ10 deficiency describing two sisters with encephalopathy, proximal weakness, myoglobinuria, and lactic acidosis. We report a patient who had delayed motor mi...

journal_title：Neurology

authors： Sobreira C,Hirano M,Shanske S,Keller RK,Haller RG,Davidson E,Santorelli FM,Miranda AF,Bonilla E,Mojon DS,Barreira AA,King MP,DiMauro S

更新日期：1997-05-01 00:00:00

abstract：OBJECTIVES:To assess the association of primary retinal inflammation, namely retinal periphlebitis (RP) and microcystic macular edema, with clinical, brain, and retinal imaging biomarkers of multiple sclerosis (MS) severity. METHODS:One hundred patients with MS underwent a neurologic and ophthalmic examination, MRI, a...

journal_title：Neurology

authors： Ortiz-Pérez S,Martínez-Lapiscina EH,Gabilondo I,Fraga-Pumar E,Martínez-Heras E,Saiz A,Sanchez-Dalmau B,Villoslada P

更新日期：2013-09-03 00:00:00

abstract：:The aim of this randomized, double-blind, placebo-controlled cross-over study was to test whether valproic acid relieves painful polyneuropathy. Thirty-one patients completed two treatment phases of 4 weeks' duration with valproic acid (1,500 mg daily) and placebo. There was no significant difference between valproic ...

journal_title：Neurology

authors： Otto M,Bach FW,Jensen TS,Sindrup SH

更新日期：2004-01-27 00:00:00

abstract：:In a series of 44 consecutive patients with Charcot-Marie-Tooth disease (CMT), we found restless legs syndrome (RLS) in 10 of 27 CMT type 2 (CMT2) patients (37%) and in none of 17 CMT type 1 patients (p = 0.004). In the CMT2 patients, RLS was associated with positive sensory symptoms (10/10 versus 10/17; p = 0.026). T...

journal_title：Neurology

authors： Gemignani F,Marbini A,Di Giovanni G,Salih S,Terzano MG

更新日期：1999-03-23 00:00:00

abstract：OBJECTIVE:To compare the clinical features of patients showing a classical phenotype of facioscapulohumeral muscular dystrophy (FSHD) with genetic and epigenetic characteristics of the FSHD1 and FSHD2 loci D4Z4 and SMCHD1. METHODS:This is a national multicenter cohort study. We measured motor strength, motor function,...

journal_title：Neurology

authors： Sacconi S,Briand-Suleau A,Gros M,Baudoin C,Lemmers RJLF,Rondeau S,Lagha N,Nigumann P,Cambieri C,Puma A,Chapon F,Stojkovic T,Vial C,Bouhour F,Cao M,Pegoraro E,Petiot P,Behin A,Marc B,Eymard B,Echaniz-Laguna A,Laf

更新日期：2019-05-07 00:00:00

abstract：:Estrogen have been reported in animal studies to both enhance and block central dopaminergic activity and in one clinical report to improve tardive dyskinesia. In the present study estrogen (Premarin, 2.5 mg per day) administration caused varying degrees of improvement in less than one-third of 21 patients with chorea...

journal_title：Neurology

authors： Koller WC,Barr A,Biary N

更新日期：1982-05-01 00:00:00

abstract：OBJECTIVE:Small uncontrolled series suggest that treatment of obstructive sleep apnea (OSA) in patients with epilepsy may improve seizure control. Prior to conducting a definitive randomized controlled trial, we addressed critical design issues in a pilot study. METHODS:We identified a cohort of adult patients with me...

journal_title：Neurology

authors： Malow BA,Foldvary-Schaefer N,Vaughn BV,Selwa LM,Chervin RD,Weatherwax KJ,Wang L,Song Y

更新日期：2008-08-19 00:00:00

abstract：:Hoarding behavior associated with focal brain injury is rarely reported. The authors report a 46-year-old man with pathologic collecting behavior after a left orbitofrontal and caudate injury from an aneurysmal rupture of anterior communicating artery. His hoarding, an impulse control disorder or an ego-syntonic compu...

journal_title：Neurology

authors： Hahm DS,Kang Y,Cheong SS,Na DL

更新日期：2001-02-13 00:00:00

abstract：:Creatine monohydrate has been shown to increase strength in studies of young healthy subjects and in a few studies with patients. Creatine monohydrate (10 g daily for 5 days to 5 g daily for 5 days) was administered to patients with neuromuscular disease in a pilot study (Study 1; n = 81), followed by a single-blinded...

journal_title：Neurology

authors： Tarnopolsky M,Martin J

更新日期：1999-03-10 00:00:00