Myoadenylate deaminase deficiency in a patient with facial and limb girdle myopathy.

abstract：:Acute mountain sickness (AMS) can occur during climbs to high altitudes and may seriously disturb the behavioral and intellectual capacities of susceptible subjects. During a Himalayan expedition 32 mountaineers were examined with electroencephalography (EEG) and transcranial doppler sonography (TCD) to assess relativ...

journal_title：Journal of neurology

authors： Feddersen B,Ausserer H,Neupane P,Thanbichler F,Depaulis A,Waanders R,Noachtar S

更新日期：2007-03-01 00:00:00

abstract：INTRODUCTION:The so called "neurodegenerative Langerhans cell histiocytosis" (ND-LCH) is a rare and severe complication of LCH presenting as a progressive cerebellar ataxia associated with pyramidal tract signs, and cognitive impairment. MRI is the gold standard to investigate CNS lesions of ND-LCH but little is known ...

journal_title：Journal of neurology

authors： Ribeiro MJ,Idbaih A,Thomas C,Remy P,Martin-Duverneuil N,Samson Y,Donadieu J,Hoang-Xuan K

更新日期：2008-04-01 00:00:00

abstract：:Exercise therapy (ET) can be beneficial in disabled multiple sclerosis (MS) patients. Intermittent transcranial magnetic theta burst stimulation (iTBS) induces long-term excitability changes of the cerebral cortex and may ameliorate spasticity in MS. We investigated whether the combination of iTBS and a program of ET ...

journal_title：Journal of neurology

authors： Mori F,Ljoka C,Magni E,Codecà C,Kusayanagi H,Monteleone F,Sancesario A,Bernardi G,Koch G,Foti C,Centonze D

更新日期：2011-07-01 00:00:00

abstract：:Sudden death has been reported in patients with multiple system atrophy (MSA), although the frequency of this event has not been well delineated. We investigated the frequency and potential causes of sudden death in patients with MSA. During the 5-year observation period, 10 of 45 patients with probable MSA died. The ...

journal_title：Journal of neurology

authors： Shimohata T,Ozawa T,Nakayama H,Tomita M,Shinoda H,Nishizawa M

更新日期：2008-10-01 00:00:00

abstract：:This study of frontotemporal dementia (FTD) was carried out to determine whether MR spectroscopy can provide an in vivo marker for the neuronal loss and gliosis that occur in this condition. We compared spectra in frontal and temporal regions known to be affected early in the course of the disease with spectra in the ...

journal_title：Journal of neurology

authors： Coulthard E,Firbank M,English P,Welch J,Birchall D,O'Brien J,Griffiths TD

更新日期：2006-07-01 00:00:00

abstract：:Continuous intrathecal administration of baclofen with implanted programmable pump systems is recommended in the treatment of severe spasticity of cerebral origin. Prior to pump implantation, a baclofen bolus test (BBT) is used to assess the effectiveness of intrathecal baclofen using the modified Ashworth Scale (MAS)...

journal_title：Journal of neurology

authors： Pohl M,Rockstroh G,Rückriem S,Mehrholz J,Mrass G,Pause M

更新日期：2002-09-01 00:00:00

abstract：:Limb-girdle muscular dystrophies (LGMDs) are genetically heterogeneous and the diagnostic work-up including conventional genetic testing using Sanger sequencing remains complex and often unsatisfactory. We performed targeted sequencing of 23 LGMD-related genes and 15 genes in which alterations result in a similar phen...

journal_title：Journal of neurology

authors： Kuhn M,Gläser D,Joshi PR,Zierz S,Wenninger S,Schoser B,Deschauer M

更新日期：2016-04-01 00:00:00

abstract：:Rapid-eye-movement (REM) sleep behavior disorder (RBD) is a parasomnia characterized by complex motor activity associated with dreaming during REM sleep. RBD may be idiopathic or associated with various neurological diseases involving the brainstem. The association of RBD and limbic system impairment was unclear. We r...

journal_title：Journal of neurology

authors： Lin FC,Liu CK,Hsu CY

更新日期：2009-07-01 00:00:00

abstract：:Cerebral ischemia of 15 min was produced in rats by increasing intracranial pressure above the systolic blood pressure level by infusing artificial cerebrospinal fluid into the cisterna magna. Pulmonary edema was prevented by blocking the vasomotor response with a ganglioplegic agent, and reducing the fluid load by pe...

journal_title：Journal of neurology

authors： Kawakami S,Hossmann KA

更新日期：1977-12-01 00:00:00

abstract：:Knowledge of restless legs syndrome (RLS) has greatly increased in recent years due to the many advances that have been made in diagnosis, management and genetics. Tools have been developed that facilitate the diagnosis and treatment of RLS, in particular the essential diagnostic criteria for RLS have been refined, se...

journal_title：Journal of neurology

authors： Trenkwalder C,Högl B,Winkelmann J

更新日期：2009-04-01 00:00:00

abstract：BACKGROUND:Bilateral pallidal lesions induce a range of cognitive and motor disorders, principally a parkinsonian syndrome in which severe disturbances of gait and gait initiation are frequently reported. However, the precise clinical features of these disorders (and the role of the pallidum therein) remain to be estab...

journal_title：Journal of neurology

authors： Krystkowiak P,Delval A,Dujardin K,Bleuse S,Blatt JL,Bourriez JL,Derambure P,Destée A,Defebvre L

更新日期：2006-05-01 00:00:00

abstract：:In fibromyalgia (FM), reduced habituation of laser-evoked potentials (LEPs) suggests a dysfunction of pain processing at a central level. In this study, we aimed to further examine the nociceptive pathways at the peripheral to the central level in a large group of FM patients by means of LEPs and skin biopsy, in light...

journal_title：Journal of neurology

authors： de Tommaso M,Nolano M,Iannone F,Vecchio E,Ricci K,Lorenzo M,Delussi M,Girolamo F,Lavolpe V,Provitera V,Stancanelli A,Lapadula G,Livrea P

更新日期：2014-03-01 00:00:00

abstract：:Treatment of multiple sclerosis (MS) with interferon beta (IFNbeta) can be associated with the development of binding antibodies (BAbs) and neutralizing antibodies (NAbs). NAbs are a subset of BAbs that prevent IFNbeta from effectively binding to or activating its receptor, thereby blocking its biologic effects and in...

journal_title：Journal of neurology

authors： Deisenhammer F,Schellekens H,Bertolotto A

更新日期：2004-06-01 00:00:00

abstract：:The United Nations High Commissioner for Refugees (UNHCR) recognizes 43.7 million forcibly displaced persons and asylum seekers due to conflict and persecution worldwide. Neurological disorders have rarely been described in displaced persons but likely pose a significant burden of disease. We describe the disease spec...

journal_title：Journal of neurology

authors： Mateen FJ,Carone M,Nyce S,Ghosn J,Mutuerandu T,Al-Saedy H,Lowenstein DH,Burnham G

更新日期：2012-04-01 00:00:00

abstract：INTRODUCTION:Whether different mechanisms, particularly ocular pathology, could lead to the emergence of visual hallucinations (VH) (defined as false perceptions with no external stimulus) versus visual illusions (VI) (defined as a misperception of a real stimulus) in Parkinson's disease (PD) remains debated. We assess...

journal_title：Journal of neurology

authors： Marques A,Beze S,Pereira B,Chassain C,Monneyron N,Delaby L,Lambert C,Fontaine M,Derost P,Debilly B,Rieu I,Lewis SJG,Chiambaretta F,Durif F

更新日期：2020-10-01 00:00:00

abstract：: ...

journal_title：Journal of neurology

authors： Argaet EC,Young AS,Bradshaw AP,Welgampola MS

更新日期：2019-01-01 00:00:00

abstract：BACKGROUND AND PURPOSE:The efficacy and safety of mechanical thrombectomy (MT) for M2 segment occlusion of middle cerebral artery in patients with acute ischemic stroke (AIS) was investigated. METHODS:We searched PubMed and EMBASE from inception to 16 April 2019 for relevant studies, calculated the pool relative risks...

journal_title：Journal of neurology

authors： Wang J,Qian J,Fan L,Wang Y

更新日期：2020-01-22 00:00:00

abstract：:Repetitive transcranial magnetic stimulation (rTMS) and intermittent theta-burst stimulation (iTBS) can be used to manage post-stroke spasticity, but a meta-analysis of the recent randomized-controlled trials (RCTs) is lacking. Our aim is to perform a meta-analysis of the RCTs that investigated the efficacy of rTMS in...

journal_title：Journal of neurology

authors： Xu P,Huang Y,Wang J,An X,Zhang T,Li Y,Zhang J,Wang B

更新日期：2020-07-11 00:00:00

abstract：:In vivo nuclear magnetic resonance spectroscopy (MRS) of the human brain is a recently developed technique which allows to assay noninvasively in vivo key molecules of brain metabolism. After a review of the origin of the signals detected by phosphorus and proton MRS of human brain, the impact of MRS on clinical neuro...

journal_title：Journal of neurology

authors： Vion-Dury J,Meyerhoff DJ,Cozzone PJ,Weiner MW

更新日期：1994-05-01 00:00:00

abstract：:Quality of life is an important issue in the treatment of Parkinson's disease. Both general and disease specific quality of life scales are now being used in interventional trials. In the Sinemet CR First trial, the long-acting preparation was found to be superior to the immediate release preparation in several measur...

journal_title：Journal of neurology

authors： Wasielewski PG,Koller WC

更新日期：1998-05-01 00:00:00

abstract：:Three families are described which include members with "typical" Friedreich's disease (FD) and others who are ataxic but do not satisfy all the diagnostic criteria for that disease. In family A two patients have an early-onset, rapidly progressive FD, while two others have a late-onset, more benign form. In families ...

journal_title：Journal of neurology

authors： Filla A,De Michele G,Cavalcanti F,Santorelli F,Santoro L,Campanella G

更新日期：1991-06-01 00:00:00

abstract：:In contrast to other neurodegenerative diseases, sporadic Creutzfeldt-Jakob disease (sCJD) is rarely diagnosed in patients older than 75 years. Data describing the characteristics of sCJD in the very old are rare and inconclusive. Therefore, a historical cohort study was designed to evaluate clinical, cerebrospinal fl...

journal_title：Journal of neurology

authors： Karch A,Raddatz LM,Ponto C,Hermann P,Summers D,Zerr I

更新日期：2014-05-01 00:00:00

abstract：OBJECTIVES:Over the past few decades, there has been an improvement in the rate of disability progression in multiple sclerosis (MS) patients, and most studies relate this evolvement to the introduction of disease-modifying therapies. However, several other factors have changed over this period, including access to MRI...

journal_title：Journal of neurology

authors： Simonsen CS,Flemmen HØ,Broch L,Brunborg C,Berg-Hansen P,Moen SM,Celius EG

更新日期：2020-10-22 00:00:00

abstract：:In paralytic shellfish poisoning a mollusc contaminated with a toxin (saxitoxin) causes a potentially lethal disease, clinically characterised by gastrointestinal and neurological symptoms, of which possible respiratory depression is the most serious. The toxin acts by blocking the sodium channels. We report 9 Portugu...

journal_title：Journal of neurology

authors： de Carvalho M,Jacinto J,Ramos N,de Oliveira V,Pinho e Melo T,de Sá J

更新日期：1998-08-01 00:00:00

abstract：BACKGROUND:The nonischemic forearm exercise test (NIFET) has been shown to be as effective as the classic ischemic forearm exercise test (IFET) in the diagnosis of patients with McArdle disease. Recently, the lactate increase normalized to the mechanical energy production in NIFET was suggested to have a intermediate s...

journal_title：Journal of neurology

authors： Hanisch F,Eger K,Bork S,Lehnich H,Deschauer M,Zierz S

更新日期：2006-06-01 00:00:00

abstract：:Neuromyelitis optica (NMO) is an inflammatory/demyelinating disorder predominantly affecting the optic nerves and spinal cord. Recent findings showed an underlying humoral abnormality in NMO, characterized by a serum antibody against aquaporin-4 (Aqp-4-Ab). In this study, we evaluated the Aqp-4-Ab status among Turkish...

journal_title：Journal of neurology

authors： Akman-Demir G,Tüzün E,Waters P,Içöz S,Kürtüncü M,Jarius S,Yapıcı Z,Mutlu M,Yeşilot N,Vincent A,Eraksoy M

更新日期：2011-03-01 00:00:00

abstract：OBJECTIVE:To assess the overlap of and differences between quantitative muscle MRI and ultrasound in characterizing structural changes in leg muscles of facioscapulohumeral muscular dystrophy (FSHD) patients. METHODS:We performed quantitative MRI and quantitative ultrasound of ten leg muscles in 27 FSHD patients and a...

journal_title：Journal of neurology

authors： Mul K,Horlings CGC,Vincenten SCC,Voermans NC,van Engelen BGM,van Alfen N

更新日期：2018-11-01 00:00:00

abstract：BACKGROUND:The aim of study was to demonstrate that the first three injections of botulinum neurotoxin type A (BoNT/A) appear to be less effective in botulinum toxin naïve patients with idiopathic cervical dystonia (CD) with mild symptoms and low severity scores (TSUI-scores) at onset of BoNT/A-therapy compared to pati...

journal_title：Journal of neurology

authors： Hefter H,Samadzazeh S,Rosenthal D

更新日期：2021-01-01 00:00:00

abstract：:5-Hydroxytryptamine (5-HT; serotonin) has long been implicated in the aetiology of migraine but the evidence remains circumstantial and certainly not definitive. Numerous papers have reviewed the background which is briefly outlined here. Although the continued belief in the primary involvement of 5-HT in the genesis ...

journal_title：Journal of neurology

authors： Humphrey PP

更新日期：1991-01-01 00:00:00

abstract：:We performed the first population-based case-control study on clinical risk factors and drug exposure in Guillain-Barré syndrome (GBS). Sixty patients with GBS were collected through an incidence survey performed in the Emilia-Romagna region of northern Italy. GBS patients were compared with 109 hospital controls (HC)...

journal_title：Journal of neurology

authors： D'Alessandro R,Casmiro M,Guarino M

更新日期：1999-11-01 00:00:00