BAG3 p.Pro209Ser mutation identified in a Chinese family with Charcot-Marie-Tooth disease.

abstract：:Although the beneficial effect of subcutaneous injections of botulinum toxin type A (BTX-A) is well known in both blepharospasm and hemifacial spasm, the position of the injection sites around the orbicularis oculi may influence the effectiveness and side effects. Here we report results of preseptal and pretarsal BTX-...

journal_title：Journal of neurology

authors： Cakmur R,Ozturk V,Uzunel F,Donmez B,Idiman F

更新日期：2002-01-01 00:00:00

abstract：:We report on a 14-year-old boy with congenital isolated hemifacial hyperplasia. Hemifacial hypertrophy most likely represents a minor form of congenital hemihypertrophy. MRI of the soft tissue is particularly suitable to support the diagnosis and reveal associated bony asymmetries. ...

journal_title：Journal of neurology

authors： Urban PP,Bruening R

更新日期：2009-09-01 00:00:00

abstract：OBJECTIVES:Evidences from either small series or spontaneous reporting are accumulating that SARS-CoV-2 involves the Nervous Systems. The aim of this study is to provide an extensive overview on the major neurological complications in a large cohort of COVID-19 patients. METHODS:Retrospective, observational analysis o...

journal_title：Journal of neurology

authors： Rifino N,Censori B,Agazzi E,Alimonti D,Bonito V,Camera G,Conti MZ,Foresti C,Frigeni B,Gerevini S,Grimoldi M,La Gioia S,Partziguian T,Quadri S,Riva R,Servalli MC,Sgarzi M,Storti B,Vedovello M,Venturelli E,Viganò M

更新日期：2020-10-07 00:00:00

abstract：:Autonomic nervous system (ANS) involvement is frequently found in Parkinson's disease (PD), but its causal relationship to the disease itself and its medication is unclear. We evaluated the effects of PD medications on cardiovascular ANS functions. Heart rate (HR) responses to normal and deep breathing, the Valsalva m...

journal_title：Journal of neurology

authors： Haapaniemi TH,Kallio MA,Korpelainen JT,Suominen K,Tolonen U,Sotaniemi KA,Myllylä VV

更新日期：2000-11-01 00:00:00

abstract：:Thirteen patients with subacute sclerosing panencephalitis (S.S.P.E.) at different stages of the disease were admitted for transfer factor treatment. The transfer factor was prepared from non-selected blood bank donors. The activity of the transfer factor was tested in patients with diseases other than S.S.P.E. and wa...

journal_title：Journal of neurology

authors： Käckell YM,Grob PJ,Kreth WH,Kibler R,Meulen V

更新日期：1975-12-02 00:00:00

abstract：:Fatigue is a common symptom of multiple sclerosis (MS) even in the early phases of the disease, when neurological disability is usually still not present. To investigate the pathophysiology of fatigue we compared neurophysiological (motor evoked potentials of the four limbs, MEPs) and brain magnetic resonance imaging ...

journal_title：Journal of neurology

authors： Colombo B,Martinelli Boneschi F,Rossi P,Rovaris M,Maderna L,Filippi M,Comi G

更新日期：2000-07-01 00:00:00

abstract：:Two patients with chorea and polycythaemia vera are described. The literature on this rare association is reviewed and its pathophysiology discussed. ...

journal_title：Journal of neurology

authors： Mas JL,Gueguen B,Bouche P,Derouesné C,Varet B,Castaigne P

更新日期：1985-01-01 00:00:00

abstract：:Disease management is defined as any medical or pharmaceutical intervention designed to improve both outcomes for the patient and overall cost-effectiveness of the health plan. Disease management focuses on the patient throughout the entire course of the disease, involving both health providers and third-party payers....

journal_title：Journal of neurology

authors： Matheron L,Barrau K,Blin O

更新日期：1998-08-01 00:00:00

abstract：OBJECTIVE:To evaluate the role of MR morphometry in the characterization of cerebral microangiopathy (CMA) in relation to clinical and neuropsychological impairment. SUBJECTS AND METHODS:3D MR images of 27 patients and 27 age-matched controls were morphometrically analysed for regional thickness. The normalized values...

journal_title：Journal of neurology

authors： Preul C,Lohmann G,Hund-Georgiadis M,Guthke T,von Cramon DY

更新日期：2005-04-01 00:00:00

abstract：:Leukocyte recruitment and inflammatory response play an important patho-physiologic role after cerebral ischemia. This study aimed to evaluate whether leukocyte adhesion molecules can predict clinical outcome in patients after ischemic stroke. We prospectively examined serial changes in p-selectin glycoprotein ligand-...

journal_title：Journal of neurology

authors： Tsai NW,Chang WN,Shaw CF,Jan CR,Huang CR,Chen SD,Chuang YC,Lee LH,Lu CH

更新日期：2009-08-01 00:00:00

abstract：:Corticospinal lesions cause impairments in voluntary motor control. Recent findings suggest that some degree of voluntary control may be taken over by a compensatory pathway involving the reticulospinal tract. In humans, evidence for this notion mainly comes from StartReact studies. StartReact is the acceleration of r...

journal_title：Journal of neurology

authors： van Lith BJH,Coppens MJM,Nonnekes J,van de Warrenburg BPC,Geurts AC,Weerdesteyn V

更新日期：2018-11-01 00:00:00

abstract：:Bilateral paramedian thalamic infarctions are usually associated with impaired consciousness, oculomotor disturbances and neuropsychological changes. A 44-year-old healthy woman presented with amaurosis fugax of the right eye immediately after a Valsalva maneuver. Neurological examination, in particular visual acuity,...

journal_title：Journal of neurology

authors： Emond H,Landis T,Perren F

更新日期：2009-06-01 00:00:00

abstract：:Two right-handed patients who exhibited language disability after left frontal infarction are described. The patients spoke fluently and exhibited excellent repetition ability from the onset of infarction without exhibiting any oral apraxia, but had deficits in auditory comprehension, naming, reading and writing. In b...

journal_title：Journal of neurology

authors： Otsuki M,Soma Y,Koyama A,Yoshimura N,Furukawa H,Tsuji S

更新日期：1998-02-01 00:00:00

abstract：BACKGROUND:Hyposmia can develop with age and in neurodegenerative conditions, including Parkinson's disease (PD). The University of Pennsylvania Smell Identification Test (UPSIT) is a 40-item smell test widely used for assessing hyposmia. However, in a number of situations, such as identifying hyposmic individuals in l...

journal_title：Journal of neurology

authors： Joseph T,Auger SD,Peress L,Rack D,Cuzick J,Giovannoni G,Lees A,Schrag AE,Noyce AJ

更新日期：2019-08-01 00:00:00

abstract：:Recent reports suggest the possible beneficial effects of haemopoietic stem cell transplantation (HSCT) in autoimmune diseases such as multiple sclerosis (MS). The definition of the risk/benefit ratio for such a treatment is perceived as a major issue for the neurological community worldwide. The First Consensus Confe...

journal_title：Journal of neurology

authors： Comi G,Kappos L,Clanet M,Ebers G,Fassas A,Fazekas F,Filippi M,Hartung HP,Hertenstein B,Karussis D,Martino G,Tyndall A,van der Meché FG

更新日期：2000-05-01 00:00:00

abstract：:Two cases of Addison's disease associated with myasthenia gravis are reported. This association has been described only rarely in the literature. In the first case, there were marked immunological abnormalities. It is most likely that the origin of the adrenocortical insufficiency in the second case is tuberculous. Th...

journal_title：Journal of neurology

authors： Dumas P,Archambeaud-Mouveroux F,Vallat JM,Barussaud D,Hugon J,Dumas M

更新日期：1985-01-01 00:00:00

abstract：:We review the neuronal antibodies described in CNS disorders in order to clarify their diagnostic value, emphasize potentials pitfalls and limitations in the diagnosis of paraneoplastic neurological syndromes (PNS), and examine the current evidence for a possible pathogenic role. We propose to classify the neuronal an...

journal_title：Journal of neurology

authors： Graus F,Saiz A,Dalmau J

更新日期：2010-04-01 00:00:00

abstract：BACKGROUND:Dermic fibroblasts have been proposed as a potential genetic-ALS cellular model. This study aimed to explore whether dermic fibroblasts from patients with sporadic-ALS (sALS) recapitulate alterations typical of ALS motor neurons and exhibit abnormal DNA-damage response. METHODS:Dermic fibroblasts were obtai...

journal_title：Journal of neurology

authors： Riancho J,Castanedo-Vázquez D,Gil-Bea F,Tapia O,Arozamena J,Durán-Vían C,Sedano MJ,Berciano MT,Lopez de Munain A,Lafarga M

更新日期：2020-05-01 00:00:00

abstract：BACKGROUND AND OBJECTIVE:An optimal management of vascular risk factors, associated with antithrombotic drugs and carotid surgery when appropriate, reduces the risk of a new vascular event after stroke. Although secondary prevention is not optimal in many patients in practice, the question of whether there is an improv...

journal_title：Journal of neurology

authors： Girot M,Mackowiak-Cordoliani MA,Deplanque D,Hénon H,Lucas C,Leys D

更新日期：2005-01-01 00:00:00

abstract：BACKGROUND:Therapy of autoimmune diseases of the central and peripheral nervous system with intravenous IgG immunoglobulin (IVIg) is well established. Since IVIg is produced from pooled human plasma, autoantibodies can be found in IVIg products and, accordingly, in patient sera after transfusion. The de novo evidence o...

journal_title：Journal of neurology

authors： Grüter T,Ott A,Meyer W,Jarius S,Kinner M,Motte J,Pitarokoili K,Gold R,Komorowski L,Ayzenberg I

更新日期：2020-03-01 00:00:00

abstract：:Thinning of the retinal nerve fiber layer (RNFL) of clinically unaffected eyes is seen in patients with multiple sclerosis (MS). It is uncertain when this thinning occurs, and whether ongoing RNFL loss can be measured over time with optical coherence tomography (OCT). Using time-domain OCT, we studied 34 patients with...

journal_title：Journal of neurology

authors： Henderson AP,Trip SA,Schlottmann PG,Altmann DR,Garway-Heath DF,Plant GT,Miller DH

更新日期：2010-07-01 00:00:00

abstract：:There has been a resurgence in the use of functional neurosurgery for Parkinson's disease. An important factor that has played a role in this development is the recent understanding of the functional anatomy of the basal ganglia including a knowledge of the changes in the activities of neurons in the internal segment ...

journal_title：Journal of neurology

authors： Lang AE,Duff J,Saint-Cyr JA,Trepanier L,Gross RE,Lombardi W,Montgomery E,Hutchinson W,Lozano AM

更新日期：1999-09-01 00:00:00

abstract：:The objective of this study was to investigate cognitive dysfunction in 24-60-year-old neuromyelitis optica (NMO) patients, demographically matched healthy subjects, and MS patients. We conducted a comprehensive literature review of the PubMed, Medline, EMBASE, CNKI, Wan Fang Date, Web of Science, and Cochrane Library...

journal_title：Journal of neurology

authors： Meng H,Xu J,Pan C,Cheng J,Hu Y,Hong Y,Shen Y,Dai H

更新日期：2017-08-01 00:00:00

abstract：:We should like to emphasize the following points: 1. Apathy is defined here as a quantified and observable behavioral syndrome consisting in a quantitative reduction of voluntary (or goal-directed) behaviors; 2. Therefore, apathy occurs when the systems that generate and control voluntary actions are altered; 3. These...

journal_title：Journal of neurology

authors： Levy R,Czernecki V

更新日期：2006-12-01 00:00:00

abstract：:The effect of local cooling was studied in 28 patients with myastenia gravis. We stimulated the ulnar nerve with single stimuli and trains at 3/s for 2s and at 50/s for 1.5 s. The compound muscle action potential (MAP), the muscle twitch and the isometric tetanic force of the adductor pollicis were registered. 1. At 3...

journal_title：Journal of neurology

authors： Ricker K,Hertel G,Stodieck S

更新日期：1977-11-01 00:00:00

abstract：:In Huntington's disease (HD) atrophy of the caudate nucleus and putamen has been described many years before clinical manifestation. Volume changes of the pallidum, thalamus, brainstem, accumbens nucleus, hippocampus, and amygdala are less well investigated, or reported with contradicting results. The aim of our study...

journal_title：Journal of neurology

authors： van den Bogaard SJ,Dumas EM,Acharya TP,Johnson H,Langbehn DR,Scahill RI,Tabrizi SJ,van Buchem MA,van der Grond J,Roos RA,TRACK-HD Investigator Group.

更新日期：2011-03-01 00:00:00

abstract：:Alemtuzumab is an anti-CD52 monoclonal antibody recently licensed for use in relapsing-remitting multiple sclerosis. Here, we report our experience of its use in neuromyelitis optica (NMO) spectrum disorders. A retrospective case review of patients treated with alemtuzumab in Cambridge, UK, was conducted to identify t...

journal_title：Journal of neurology

authors： Azzopardi L,Cox AL,McCarthy CL,Jones JL,Coles AJ

更新日期：2016-01-01 00:00:00

abstract：:Chronic exposure to manganese may induce parkinsonism similar to idiopathic Parkinson's disease (PD). However, clinical manifestations of manganism also have some features different from PD. The mechanisms of manganese-induced parkinsonism remain not fully understood. (99m)Tc-TRODAT-1 is a cocaine analogue that can bi...

journal_title：Journal of neurology

authors： Huang CC,Weng YH,Lu CS,Chu NS,Yen TC

更新日期：2003-11-01 00:00:00

abstract：:KIF1A gene encodes the kinesin 1a protein, an axonal motor protein working in cargo transport along neurites. Variants in KIF1A were identified in different forms of neurodegenerative diseases with dominant and recessive inheritance. Homozygous recessive mutations were found in the hereditary sensory and autonomic neu...

journal_title：Journal of neurology

authors： Citterio A,Arnoldi A,Panzeri E,Merlini L,D'Angelo MG,Musumeci O,Toscano A,Bondi A,Martinuzzi A,Bresolin N,Bassi MT

更新日期：2015-12-01 00:00:00

abstract：INTRODUCTION:The present study aimed to survey the prevalence of prodromal symptoms of Parkinson's disease (PD) in Japanese health checkup examinees, for identifying at-risk subjects. METHODS:We conducted a questionnaire survey of annual health checkup examinees without neurological symptoms using the following self-r...

journal_title：Journal of neurology

authors： Hattori M,Tsuboi T,Yokoi K,Tanaka Y,Sato M,Suzuki K,Arahata Y,Hori A,Kawashima M,Hirakawa A,Washimi Y,Watanabe H,Katsuno M

更新日期：2020-05-01 00:00:00