Nerve sheath tumours.

abstract：:Although most patients with spinal muscular atrophy (SMA) are homozygous for deletion of the SMN1 gene, some patients bear one SMN1 copy with a subtle mutation. Detection of such an intragenic mutation may be helpful not only in confirming diagnosis but also in elucidating functional domains of the SMN protein. In thi...

journal_title：Journal of neurology

authors： Kotani T,Sutomo R,Sasongko TH,Sadewa AH,Gunadi,Minato T,Fujii E,Endo S,Lee MJ,Ayaki H,Harada Y,Matsuo M,Nishio H

更新日期：2007-05-01 00:00:00

abstract：:A girl with rapid-onset, bulbospinal muscular atrophy and deafness is described. The patient's mother and brother showed EMG features consistent with subclinical involvement. T is bulbospinal form of spinal muscular atrophy associated with deafness described by Vialetto and van Laere closely resembles the Madras type ...

journal_title：Journal of neurology

authors： Summers BA,Swash M,Schwartz MS,Ingram DA

更新日期：1987-08-01 00:00:00

abstract：:The aim of our study was to compare the results obtained by intraoperative and postoperative subthalamic nucleus (STN) macrostimulation in Parkinson's disease (PD). One hundred three PD patients implanted with bilateral STN stimulation were included. The thresholds for efficacy and side effects (motor contraction; par...

journal_title：Journal of neurology

authors： Xie J,Adamec D,Decullier E,Bin-Dorel S,Mertens P,Polo G,Poisson A,Broussolle E,Thobois S

更新日期：2010-09-01 00:00:00

abstract：:We measured changes in brain magnetization transfer ratio (MTR) as a potential indicator of myelin density in brain tissue of patients with relapsing-remitting multiple sclerosis (RRMS) treated with delayed-release dimethyl fumarate (DMF) in the Phase 3 DEFINE study. DEFINE was a randomized, double-blind, placebo-cont...

journal_title：Journal of neurology

authors： Arnold DL,Gold R,Kappos L,Bar-Or A,Giovannoni G,Selmaj K,Yang M,Zhang R,Stephan M,Sheikh SI,Dawson KT

更新日期：2014-12-01 00:00:00

abstract：:A 57-year-old male was repeatedly admitted to hospital because of complex neurological symptoms, including radicular pain, disturbance of micturition, seizures, and severely impaired mental state. The diagnosis was encephalomyeloradiculitis possibly of viral origin, and treatment with immunosuppressants was initiated....

journal_title：Journal of neurology

authors： Kollikowski HH,Schwendemann G,Schulz M,Wilhelm H,Lehmann HJ

更新日期：1988-01-01 00:00:00

abstract：:Demyelination in multiple sclerosis (MS) may cause damage to the vegetative nervous system. Our objective was to examine cerebral autoregulation assessed via blood pressure and cerebral blood flow velocity fluctuations during head-up tilt table testing. We also investigated the effects of high-dose intravenous cortico...

journal_title：Journal of neurology

authors： Mezei Z,Olah L,Kardos L,Kovacs RK,Csiba L,Csepany T

更新日期：2013-09-01 00:00:00

abstract：:Laser Doppler is widely used to evaluate sympathetic vasoconstrictor function. Continuous wave (cw)-Doppler of the radial artery may be an alternative but less expensive approach to quantify sympathetically induced resistance changes in the peripheral vascular system. In order to compare the power of both methods, thi...

journal_title：Journal of neurology

authors： Eicke BM,Milke K,Schlereth T,Birklein F

更新日期：2004-08-01 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：BACKGROUND:Progression of parkinsonian motor impairment is usually rapid and relentless in multiple system atrophy (MSA). However, it may also be subject to considerable variation. Prospective natural history studies using validated rating scales are required to accurately determine the progression of parkinsonism in M...

journal_title：Journal of neurology

authors： Seppi K,Yekhlef F,Diem A,Luginger Wolf E,Mueller J,Tison F,Quinn NP,Poewe W,Wenning GK

更新日期：2005-01-01 00:00:00

abstract：:The management of high-grade glioma (HGG) has evolved significantly over the last decade. Patients are managed in a multidisciplinary team setting in order to ensure their care is guided by the most current evidenced based treatments. The outcome in patients with HGG, while still poor, has improved in terms of both su...

journal_title：Journal of neurology

authors： Bradley D,Rees J

更新日期：2014-04-01 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：:Hereditary peripheral neuropathies present a group of clinically and genetically heterogeneous entities. All known forms, including the various forms of Charcot-Marie-Tooth disease (CMT) are characterized as Mendelian traits and over 35 genes have been identified thus far. The mutational mechanism of the most common C...

journal_title：Journal of neurology

authors： Huang J,Wu X,Montenegro G,Price J,Wang G,Vance JM,Shy ME,Züchner S

更新日期：2010-05-01 00:00:00

abstract：OBJECTIVE:The main aim was to explore the changes in hand-grip strength in patients with Duchenne muscular dystrophy (DMD) aged 5-29 years. Secondary aims were to test the effect of mutation, ambulatory status and glucocorticoid use on grip strength and its changes over time and to compute the number of subjects needed...

journal_title：Journal of neurology

authors： Hogrel JY,Decostre V,Ledoux I,de Antonio M,Niks EH,de Groot I,Straub V,Muntoni F,Ricotti V,Voit T,Seferian A,Gidaro T,Servais L

更新日期：2020-07-01 00:00:00

abstract：:The aims of this study are to investigate whether auditory dysfunction is part of the spectrum of neurological abnormalities associated with Leber's hereditary optic neuropathy (LHON) and to determine the perceptual consequences of auditory neuropathy (AN) in affected listeners. Forty-eight subjects confirmed by genet...

journal_title：Journal of neurology

authors： Rance G,Kearns LS,Tan J,Gravina A,Rosenfeld L,Henley L,Carew P,Graydon K,O'Hare F,Mackey DA

更新日期：2012-03-01 00:00:00

abstract：:Secondary worsening of stroke symptoms is described in 13-37% of stroke patients, but the exact mechanism of this phenomenon remains unclear. The aim of this study is to find prognostic variables in correlation to secondary worsening of stroke symptoms in patients with lacunar or cortical strokes. In this prospective ...

journal_title：Journal of neurology

authors： Schweitzer JR,Koehler PJ,Voogd AC,Franke CL

更新日期：2010-09-01 00:00:00

abstract：:Idiopathic hypereosinophilic syndrome (IHES) is a primary haematological condition characterised by persistent, otherwise unexplained hypereosinophilia sufficient to cause organ damage. Various neurological complications are reported, but very few have mentioned CNS pathology and none has included CNS vasculitis. Our ...

journal_title：Journal of neurology

authors： Rice CM,Kurian KM,Renowden S,Whiteway A,Price C,Scolding NJ

更新日期：2015-05-01 00:00:00

abstract：:Mutations in the mitofusin 2 (MFN2) gene are a major cause of primary axonal Charcot- Marie-Tooth (CMT) neuropathy. This study aims at further characterization of cerebral white matter alterations observed in patients with MFN2 mutations. Molecular genetic, magnetic resonance imaging (MRI), magnetic resonance spectros...

journal_title：Journal of neurology

authors： Brockmann K,Dreha-Kulaczewski S,Dechent P,Bönnemann C,Helms G,Kyllerman M,Brück W,Frahm J,Huehne K,Gärtner J,Rautenstrauss B

更新日期：2008-07-01 00:00:00

abstract：:The experience of music is difficult to study objectively. Here we describe a detailed analysis of musical hallucinations developing after a probable brainstem stroke in an 83 year old musician who was able to describe and notate the hallucinations. The hallucinations comprised simple, repetitive melodic and rhythmic ...

journal_title：Journal of neurology

authors： Warren JD,Schott GD

更新日期：2006-08-01 00:00:00

abstract：:Eight cases of malignancies with concurrent motor neuron disease (MND), derived from an unselected population representing all cases of MND diagnosed during a 15-year period in two Italian provinces, were studied to verify the existence of paraneoplastic forms of the disease. No statistically significant association b...

journal_title：Journal of neurology

authors： Chiò A,Brignolio F,Meineri P,Rosso MG,Tribolo A,Schiffer D

更新日期：1988-07-01 00:00:00

abstract：:We discuss two cases receiving different anti-tumornecrosis-factor alpha antagonists (anti-TNF-alpha); one for psoriatic arthritis (PA) and the other for ankylosing spondylitis (AS). Due to neurological symptoms cerebral magnetic resonance imaging (MRI) was performed and cerebral lesions were detected. Our interpretat...

journal_title：Journal of neurology

authors： Winkelmann A,Patejdl R,Wagner S,Benecke R,Zettl UK

更新日期：2008-12-01 00:00:00

abstract：:Neurological manifestations in pandemics frequently cause short and long-term consequences which are frequently overlooked. Despite advances in the treatment of infectious diseases, nervous system involvement remains a challenge, with limited treatments often available. The under-recognition of neurological manifestat...

journal_title：Journal of neurology

authors： Valerio F,Whitehouse DP,Menon DK,Newcombe VFJ

更新日期：2020-10-26 00:00:00

abstract：:The Euro-Esli study was an exploratory pooled analysis of data from 14 European clinical practice studies, which was conducted to audit the real-world effectiveness, safety, and tolerability of eslicarbazepine acetate (ESL) as an adjunctive treatment for partial-onset seizures. Retention and effectiveness were assesse...

journal_title：Journal of neurology

authors： Villanueva V,Holtkamp M,Delanty N,Rodriguez-Uranga J,McMurray R,Santagueda P

更新日期：2017-11-01 00:00:00

abstract：:This review summarizes topical papers from the fields of neuro-ophthalmology and neuro-otology published from August 2013 to February 2015. The main findings are: (1) diagnostic criteria for pseudotumor cerebri have been updated, and the Idiopathic Intracranial Hypertension Treatment Trial evaluated the efficacy of ac...

journal_title：Journal of neurology

authors： Gold DR,Zee DS

更新日期：2015-12-01 00:00:00

abstract：OBJECTIVE:Determine toxicity and efficacy of autologous hematopoietic stem cell transplantation (HSCT) for patients with chronic inflammatory demyelinating polyradiculoneuropathy (CIDP) who are dependent on intravenous immunoglobulins or plasmapheresis. METHODS:Unselected peripheral blood stem cells were re-infused on...

journal_title：Journal of neurology

authors： Burt RK,Balabanov R,Tavee J,Han X,Sufit R,Ajroud-Driss S,Jovanovic B,Quigley K,Arnautovic I,Helenowski I,Sharrack B

更新日期：2020-11-01 00:00:00

abstract：:The CHA(2)DS(2)-VASc score was developed to improve stroke risk stratification in atrial fibrillation (AF) patients. We sought to analyze the distribution and prognostic value of the CHA(2)DS(2)-VASc score in a cohort of ischemic stroke patients with AF. In total, 439 consecutive stroke patients with AF were studied. ...

journal_title：Journal of neurology

authors： Giralt-Steinhauer E,Cuadrado-Godia E,Ois Á,Jiménez-Conde J,Rodríguez-Campello A,Planellas L,Jimena-García S,Rubio MÁ,Roquer-González J

更新日期：2012-04-01 00:00:00

abstract：BACKGROUND:Multiple sclerosis (MS) is an autoimmune, demyelinating disease of the central nervous system. The treatment of MS has always been a focus of neurological research. To date, the US Food and Drug Administration has approved 15 medications for modifying the course of multiple sclerosis. In this study, we exami...

journal_title：Journal of neurology

authors： Li H,Hu F,Zhang Y,Li K

更新日期：2020-12-01 00:00:00

abstract：:Cortical tubers are very common in tuberous sclerosis complex (TSC) and widely vary in size, appearance and location. The relationship between tuber features and clinical phenotype is unclear. The aim of the study is to propose a classification of tuber types along a spectrum of severity, using magnetic resonance imag...

journal_title：Journal of neurology

authors： Gallagher A,Grant EP,Madan N,Jarrett DY,Lyczkowski DA,Thiele EA

更新日期：2010-08-01 00:00:00

abstract：:We investigated the levels of transforming growth factor beta 1 (TGF-beta 1) in cerebrospinal fluid (CSF) in children with meningitis, with a view to prognostic relevance. CSF TGF-beta 1 levels on admission were measured by a sandwich enzyme immunoassay in children with bacterial meningitis (n = 16), aseptic meningiti...

journal_title：Journal of neurology

authors： Huang CC,Chang YC,Chow NH,Wang ST

更新日期：1997-10-01 00:00:00

abstract：:In this work, we investigated motor network structure in patients affected by essential tremor (ET) with or without resting tremor, using probabilistic tractography of the cerebello-thalamo-basal ganglia-cortical loop. Twenty-five patients with ET, twenty-two patients with ET associated with resting tremor (rET), and ...

journal_title：Journal of neurology

authors： Caligiuri ME,Arabia G,Barbagallo G,Lupo A,Morelli M,Nisticò R,Novellino F,Quattrone A,Salsone M,Vescio B,Cherubini A,Quattrone A

更新日期：2017-09-01 00:00:00

abstract：:The etiology of spontaneous cervical artery dissection (sCAD) is unknown. An underlying connective tissue disorder has been suggested. As a collagen disease is conceivable several genes encoding fibrillar collagens have been condsidered as candidate genes for sCAD. We analysed the COL3A1 gene in patients with spontane...

journal_title：Journal of neurology

authors： von Pein F,Välkkilä M,Schwarz R,Morcher M,Klima B,Grau A,Ala-Kokko L,Hausser I,Brandt T,Grond-Ginsbach C

更新日期：2002-07-01 00:00:00