A new explanation for recessive myotonia congenita: exon deletions and duplications in CLCN1.

abstract：:The mitochondrial genome has an underdeveloped "DNA repair repertoire" compared with the nuclear genome, making the mitochondrial DNA more susceptible to mutations by endogenous factors such as defects of the mitochondrial polymerase itself, and by exogenous factors such as radiation and UV light. Increased sensitivit...

journal_title：Neurology

authors： Tritschler HJ,Medori R

更新日期：1993-02-01 00:00:00

abstract：:We carried out an open study of the effects of large doses (12 to 16 gm per day) of oral choline on medically intractable human complex partial seizures (CPS). Marked increases of plasma choline concentration (75 to 300%) in three subjects were associated with (1) shorter duration of CPS, (2) less postseizure fatigue,...

journal_title：Neurology

authors： McNamara JO,Carwile S,Hope V,Luther J,Miller P

更新日期：1980-12-01 00:00:00

abstract：:A number of unresolved issues complicate the effective management of patients with Parkinson's disease (PD). Chief among these is the role of neuroprotective versus symptomatic pharmacologic interventions. Until the etiology of PD is further defined, consensus on appropriate management of this illness is unlikely. Cli...

journal_title：Neurology

authors： Stern MB

更新日期：1997-07-01 00:00:00

abstract：OBJECTIVE:To assess the effects of levodopa on resting-state brain metabolism in PD. BACKGROUND:In previous studies the authors used [18F] fluorodeoxyglucose (FDG) and PET to quantify regional metabolic abnormalities in PD. They found that this disease is characterized reproducibly by a specific abnormal PD-related pa...

journal_title：Neurology

authors： Feigin A,Fukuda M,Dhawan V,Przedborski S,Jackson-Lewis V,Mentis MJ,Moeller JR,Eidelberg D

更新日期：2001-12-11 00:00:00

abstract：OBJECTIVE:To determine whether droxidopa, an oral norepinephrine precursor, improves symptomatic neurogenic orthostatic hypotension (nOH). METHODS:Patients with symptomatic nOH due to Parkinson disease, multiple system atrophy, pure autonomic failure, or nondiabetic autonomic neuropathy underwent open-label droxidopa ...

journal_title：Neurology

authors： Kaufmann H,Freeman R,Biaggioni I,Low P,Pedder S,Hewitt LA,Mauney J,Feirtag M,Mathias CJ,NOH301 Investigators.

更新日期：2014-07-22 00:00:00

abstract：BACKGROUND:Natalizumab is an antibody directed against integrin alpha4 that reduces disease activity in patients with multiple sclerosis (MS) by blocking migration of T and B cells into the CNS. The goal of this study was to characterize the effects of natalizumab treatment on cytokine production and expression of acti...

journal_title：Neurology

authors： Kivisäkk P,Healy BC,Viglietta V,Quintana FJ,Hootstein MA,Weiner HL,Khoury SJ

更新日期：2009-06-02 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：OBJECTIVES:To investigate capacity to consent to medical treatment (competency) in cognitively impaired patients with PD. BACKGROUND:Although competency has been studied empirically in patients with cortical dementia (AD), no empirical studies have examined competency in patients with PD or other subcortical neurodege...

journal_title：Neurology

authors： Dymek MP,Atchison P,Harrell L,Marson DC

更新日期：2001-01-09 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：:Plasma levels of six short-chain fatty acids (SCFA) were measured in 23 Reye's syndrome patients. In sequential measurements, only propionic acid correlated closely with neurologic severity. Although admission SCFA levels were slightly elevated, there were no significant differences between patients grouped by severit...

journal_title：Neurology

authors： McArthur B,Sarnaik AP,Mitchell RA

更新日期：1984-06-01 00:00:00

abstract：OBJECTIVE:To identify the source of delayed visual evoked potential (VEP) latencies in the fellow eyes of patients with optic neuritis (ON) and determine whether these latencies stem from clinically silent demyelination or reflect an adaptive process for synchronization with the affected eyes. METHODS:The study sample...

journal_title：Neurology

authors： Raz N,Chokron S,Ben-Hur T,Levin N

更新日期：2013-08-20 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：:A 59-year-old woman with levodopa-responsive parkinsonism complicated by motor fluctuations and generalized levodopa dyskinesia underwent bilateral subthalamic deep brain stimulation (STN DBS) 7 years after symptom onset. DBS improved levodopa-responsive upper extremity bradykinesia but aggravated speech, swallowing, ...

journal_title：Neurology

authors： Tarsy D,Apetauerova D,Ryan P,Norregaard T

更新日期：2003-07-22 00:00:00

abstract：:Tolcapone is a potent, reversible inhibitor of catechol O-methyltransferase (COMT) intended for use as an adjunct to levodopa therapy for Parkinson's disease (PD). Findings from the first pharmacokinetics/pharmacodynamics and tolerability studies of tolcapone in volunteers are reviewed. Following linear and dose-propo...

journal_title：Neurology

authors： Jorga KM

更新日期：1998-05-01 00:00:00

abstract：BACKGROUND:Polyneuropathy, organomegaly, endocrinopathy, M-protein, and skin changes (POEMS) syndrome is a rare multisystem disorder associated with plasma cell dyscrasia. There is increasing evidence that high-dose chemotherapy with autologous peripheral blood stem cell transplantation (Auto-PBSCT) is an efficacious t...

journal_title：Neurology

authors： Kuwabara S,Misawa S,Kanai K,Suzuki Y,Kikkawa Y,Sawai S,Hattori T,Nishimura M,Nakaseko C

更新日期：2008-11-18 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 improve our understanding of early β-amyloid (Aβ) accumulation processes using florbetapir-PET scan in 20- to 60-year-old individuals. METHODS:Seventy-six cognitively normal individuals aged 20 to 60 years, 57 cognitively normal older individuals (61-84 years old), and 70 patients with mild cognitive impa...

journal_title：Neurology

authors： Gonneaud J,Arenaza-Urquijo EM,Mézenge F,Landeau B,Gaubert M,Bejanin A,de Flores R,Wirth M,Tomadesso C,Poisnel G,Abbas A,Desgranges B,Chételat G

更新日期：2017-12-12 00:00:00

abstract：:Spinocerebellar ataxia type 6 (SCA6) is a newly classified autosomal-dominant cerebellar ataxia (ADCA) associated with CAG repeat expansion. We screened 111 patients with cerebellar ataxia for the SCA6 mutation. Of these, 35 patients were found to have expanded CAG repeats in the SCA6 gene, indicating that second to S...

journal_title：Neurology

authors： Matsumura R,Futamura N,Fujimoto Y,Yanagimoto S,Horikawa H,Suzumura A,Takayanagi T

更新日期：1997-11-01 00:00:00

abstract：OBJECTIVE:To examine metabolism during exercise in 2 patients with muscle phosphorylase kinase (PHK) deficiency and to further define the phenotype of this rare glycogen storage disease (GSD). METHODS:Patient 1 (39 years old) had mild exercise-induced forearm pain, and EMG showed a myopathic pattern. Patient 2 (69 yea...

journal_title：Neurology

authors： Preisler N,Orngreen MC,Echaniz-Laguna A,Laforet P,Lonsdorfer-Wolf E,Doutreleau S,Geny B,Akman HO,Dimauro S,Vissing J

更新日期：2012-01-24 00:00:00

abstract：OBJECTIVE:To estimate rate of progression from normal cognition or mild impairment to dementia, and to identify potential risk and protective factors for incident dementia, based on age at dementia onset in a prospective study of a population-based cohort (n = 1,982) aged 65 years and older. METHODS:Following the coho...

journal_title：Neurology

authors： Ganguli M,Lee CW,Snitz BE,Hughes TF,McDade E,Chang CC

更新日期：2015-01-06 00:00:00

abstract：:In a double-blind, placebo-controlled, parallel-group, randomized clinical trial, we studied the efficacy of long-term (1-year) oral treatment with acetyl-L-carnitine in 130 patients with a clinical diagnosis of Alzheimer's disease. We employed 14 outcome measures to assess functional and cognitive impairment. After 1...

journal_title：Neurology

authors： Spagnoli A,Lucca U,Menasce G,Bandera L,Cizza G,Forloni G,Tettamanti M,Frattura L,Tiraboschi P,Comelli M

更新日期：1991-11-01 00:00:00

abstract：:In a retrospective study of 103 corticosteroid-treated MS patients, the average rate of fracture events was 3.2% of the patients per year over 7.1 (+/- 5.7 SD) years at risk. Fractures of the ribs, pelvis, hip, or vertebrae occurred in 11 patients and became most common 5 years after starting steroids. Relatively high...

journal_title：Neurology

authors： Troiano RA,Jotkowitz A,Cook SD,Bansil S,Zito G

更新日期：1992-07-01 00:00:00

abstract：OBJECTIVE:To investigate recovery of medical decision-making capacity (MDC) over the first year following traumatic brain injury (TBI). METHODS:A total of 177 participants (111 persons with TBI and 66 healthy controls) were recruited from an inpatient/outpatient TBI rehabilitation unit and outpatient neurology departm...

journal_title：Neurology

authors： Steward KA,Gerstenecker A,Triebel KL,Kennedy R,Novack TA,Dreer LE,Marson DC

更新日期：2016-09-06 00:00:00

abstract：:We studied a patient with autopsy-proven Hallervorden-Spatz syndrome (HSS) and the previously unreported finding of high-density lesions in the basal ganglia on CT. The diagnosis of HSS should be considered in a patient with dystonia and basal ganglia mineralization on CT. ...

journal_title：Neurology

authors： Tennison MB,Bouldin TW,Whaley RA

更新日期：1988-01-01 00:00:00

abstract：:In multifocal motor neuropathy (MMN), little is known of the long-term effect of human immunoglobulin (HIG) infusions as a maintenance therapy. We report a patient who improved after an initial HIG infusion of 2 g/kg and continued to improve both clinically and electrophysiologically during maintenance HIG treatment c...

journal_title：Neurology

authors： Van den Berg LH,Franssen H,Wokke JH

更新日期：1995-05-01 00:00:00

abstract：:This article presents the findings relating to the European subgroup of 91 patients in an international survey of the current diagnosis and treatment of patients with amyotrophic lateral sclerosis (ALS). The mean time between first symptoms and first consultation with a physician was 4.9 months, and mean delay in seei...

journal_title：Neurology

authors： Dengler R

更新日期：1999-01-01 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：:To test possible biochemical mechanisms by which L-tryptophan may reverse mental side effects of levodopa therapy in parkinsonism we administered levodopa, 250 mg per kilogram intraperitoneally, alone and with L-tryptophan, 500 mg per kilogram intraperitoneally, to rats pretreated with the peripheral dopa decarboxylas...

journal_title：Neurology

authors： Fahn S,Snider S,Prasad AL,Lane E,Makadon H

更新日期：1975-09-01 00:00:00

abstract：OBJECTIVE:To assess the safety, tolerability, and biological activity of glial cell line-derived neurotrophic factor (GDNF) administered by an implanted intracerebroventricular (ICV) catheter and access port in advanced PD. BACKGROUND:GDNF is a peptide that promotes survival of dopamine neurons. It improved 6-OHDA- or...

journal_title：Neurology

authors： Nutt JG,Burchiel KJ,Comella CL,Jankovic J,Lang AE,Laws ER Jr,Lozano AM,Penn RD,Simpson RK Jr,Stacy M,Wooten GF,ICV GDNF Study Group. Implanted intracerebroventricular. Glial cell line-derived neurotrophic factor.

更新日期：2003-01-14 00:00:00

abstract：:The intrathecal humoral immune response was analyzed in 83 patients with MS and 35 patients with acute CNS infections. CSF free kappa chains and CSF free lambda chains were quantified by radioimmunoassay; CSF IgG and albumin were measured by electroimmunodiffusion. The MS patients were characterized by higher levels o...

journal_title：Neurology

authors： DeCarli C,Menegus MA,Rudick RA

更新日期：1987-08-01 00:00:00