Nusinersen treatment significantly improves hand grip strength, hand motor function and MRC sum scores in adult patients with spinal muscular atrophy types 3 and 4.

abstract：:Apraxia of lid opening (ALO) is a non-paralytic inability to open the eyes or sustain lid elevation at will. The exact pathophysiological mechanisms underlying the syndrome are still unknown. ALO has been reported in patients with Parkinson's disease (PD) after subthalamic nucleus (STN) deep brain stimulation (DBS), s...

journal_title：Journal of neurology

authors： Tommasi G,Krack P,Fraix V,Pollak P

更新日期：2012-09-01 00:00:00

abstract：:Eye movements were studied in 13 patients with Friedreich's ataxia and correlated with MRI findings to investigate whether oculomotor abnormalities can be traced to cerebellar disturbances in this disease. One of the most prominent eye signs was fixation instability (square-wave jerks, SWJ.). Besides SWJ the patients ...

journal_title：Journal of neurology

authors： Spieker S,Schulz JB,Petersen D,Fetter M,Klockgether T,Dichgans J

更新日期：1995-08-01 00:00:00

abstract：:This paper summarizes the methods we devised for the treatment of psychosis, orthostatic hypotension, and mood disorders among the various non-motor complications of Parkinson's disease. Psychosis may not manifest when a patient believes in his/her delusions. If left untreated over a prolonged period, however, the del...

journal_title：Journal of neurology

authors： Fujimoto K

更新日期：2009-08-01 00:00:00

abstract：:We examined the effect of bilateral subthalamic nucleus stimulation on levodopa-resistant balance impairment in 14 patients with Parkinson's disease and 18 matched controls. Instability was quantitatively assessed using standardized multidirectional dynamic posturography. Patients were tested after taking a suprathres...

journal_title：Journal of neurology

authors： Visser JE,Allum JH,Carpenter MG,Esselink RA,Speelman JD,Borm GF,Bloem BR

更新日期：2008-02-01 00:00:00

abstract：OBJECTIVE:To examine the efficacy and safety of the therapeutic regimen using oral and intravenous L-arginine for pediatric and adult patients with mitochondrial myopathy, encephalopathy, lactic acidosis, and stroke-like episodes (MELAS). METHODS:In the presence and absence of an ictus of stroke-like episodes within 6...

journal_title：Journal of neurology

authors： Koga Y,Povalko N,Inoue E,Nakamura H,Ishii A,Suzuki Y,Yoneda M,Kanda F,Kubota M,Okada H,Fujii K

更新日期：2018-12-01 00:00:00

abstract：OBJECTIVE:To analyse clinical and therapeutic aspects of epilepsy secondary to ulegyria in adults. PATIENTS:Out of 1,020 consecutive patients studied at a tertiary care epilepsy centre, eight cases of ulegyria were identified. All patients had comprehensive clinical evaluation, neuropsychological testing, interictal E...

journal_title：Journal of neurology

authors： Gil-Nagel A,García Morales I,Jiménez Huete A,Alvarez Linera J,del Barrio A,Ruiz Ocaña C,Muñoz DG

更新日期：2005-10-01 00:00:00

abstract：:The diagnosis and management of lesions of the brachial roots and of the brachial plexus is improved by appropriate investigation, both in acute and chronic disorders. The choice of investigation should be determined by the clinical problem. Since they are relatively non-invasive, electrophysiological investigations a...

journal_title：Journal of neurology

authors： Swash M

更新日期：1986-06-01 00:00:00

abstract：:During a period of 42 months, we studied the prevalence of epilepsy in a specific health district, composing by four towns with 98,405 inhabitants older than 10 years. This has been accomplished by a two-phase cross-sectional study. The prevalence rate observed was 4.12/1000 inhabitants for all types of epilepsy. No s...

journal_title：Journal of neurology

authors： Luengo A,Parra J,Colás J,Rámos F,Carreras T,Fernández-Pozos MJ,Muñoz A,Hernando V

更新日期：2001-09-01 00:00:00

abstract：:Amyloid positron emission tomography ([18F] florbetaben (FBB) PET) can be used to determine concomitant Alzheimer's disease (AD) in idiopathic normal pressure hydrocephalus (iNPH) patients. FBB PET scans and the tap test were performed in 31 patients with clinically suspected iNPH, and amyloid positive (iNPH/FBB+) and...

journal_title：Journal of neurology

authors： Jang H,Park SB,Kim Y,Kim KW,Lee JI,Kim ST,Lee KH,Kang ES,Choe YS,Seo SW,Kim HJ,Kim YJ,Yoon CW,Na DL

更新日期：2018-01-01 00:00:00

abstract：:Two siblings with multiple intracranial haemangiomatosis are reported, each having psychomotor retardation, epilepsy and gyriform type calcification in the occipital and frontal lobes. There were haemangiomas in one autopsy case with calcification in the deep layers of the cortex and subcortical white matter. ...

journal_title：Journal of neurology

authors： Tateno A,Matsui A,Sakuragawa N,Nonaka I,Arima M

更新日期：1985-01-01 00:00:00

abstract：:Windmill nystagmus is characterized by a clock-like rotation of the beating direction of a jerk nystagmus suggesting separate horizontal and vertical oscillators, usually 90° out of phase. We report oculographic characteristics in three patients with variants of windmill nystagmus in whom the common denominator was pr...

journal_title：Journal of neurology

authors： Choi KD,Shin HK,Kim JS,Kim SH,Choi JH,Kim HJ,Zee DS

更新日期：2016-07-01 00:00:00

abstract：OBJECTIVE:To investigate possible changes in autonomic cardiovascular regulation and cardiopulmonary baroreflex sensitivity in patients with primary cervical dystonia receiving chronic treatment with botulinum toxin type A. METHODS:Short-term power spectral analysis of heart rate and systolic blood pressure variabilit...

journal_title：Journal of neurology

authors： Tiple D,Strano S,Colosimo C,Fabbrini G,Calcagnini G,Prencipe M,Berardelli A

更新日期：2008-06-01 00:00:00

abstract：:Despite the fact that almost one-third of patients suffer from visual deficits following brain damage; neuro-visual rehabilitation to compensate for visual field deficits is relatively neglected in the clinical setting. This is in contrast to physio and speech therapies, which are the bread and butter of rehabilitativ...

journal_title：Journal of neurology

authors： Raz N,Levin N

更新日期：2017-06-01 00:00:00

abstract：:Leukoencephalopathy with brainstem and spinal cord involvement and elevated lactate (LBSL) is a rare, autosomal recessive disorder caused by mutations in the gene encoding a mitochondrial aspartyl-tRNA synthetase, DARS2. The disease is characterized by progressive spastic ataxia and magnetic resonance imaging (MRI) sh...

journal_title：Journal of neurology

authors： Tzoulis C,Tran GT,Gjerde IO,Aasly J,Neckelmann G,Rydland J,Varga V,Wadel-Andersen P,Bindoff LA

更新日期：2012-02-01 00:00:00

abstract：:The development of Guillain-Barré syndrome is reported in a patient, who had previously received botulinum toxin type A injections into both orbicularis oculi muscles to treat idiopathic blepharospasm. The possibility of a causal relationship is discussed with consideration of the literature on adverse effects of vacc...

journal_title：Journal of neurology

authors： Haug BA,Dressler D,Prange HW

更新日期：1990-02-01 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：BACKGROUND:Volume loss in the deep gray matter (DGM) has been reported in patients with multiple sclerosis (MS) already at early stages of the disease and is thought to progress throughout the disease course. OBJECTIVE:To investigate the impact and predictive value of volume loss in DGM and thalamic subnuclei on disab...

journal_title：Journal of neurology

authors： Magon S,Tsagkas C,Gaetano L,Patel R,Naegelin Y,Amann M,Parmar K,Papadopoulou A,Wuerfel J,Stippich C,Kappos L,Chakravarty MM,Sprenger T

更新日期：2020-05-01 00:00:00

abstract：:A night-time polygraphic sleep recording with continuous HbSaO2 monitoring was performed in 11 chair-bound Duchenne muscular dystrophy patients with severe restrictive lung disease but with blood gas values within normal limits when awake. No abnormalities of sleep pattern were detected. Nocturnal sleep did not have s...

journal_title：Journal of neurology

authors： Manni R,Ottolini A,Cerveri I,Bruschi C,Zoia MC,Lanzi G,Tartara A

更新日期：1989-10-01 00:00:00

abstract：:Out of 72 patients treated for Borrelia burgdorferi meningopolyradiculoneuritis facial palsies occurred in 22 (12 unilateral, 10 bilateral). Eleven of the 32 pareses were initially complete. By the follow-up examination patients had recovered well with slight sequelae in 22% without cosmetically disfiguring pareses or...

journal_title：Journal of neurology

authors： Angerer M,Pfadenhauer K,Stöhr M

更新日期：1993-05-01 00:00:00

abstract：:We evaluated 49 paired cerebrospinal fluid (CSF) and serum samples of 35 patients infected with the human immunodeficiency virus type 1 (HIV-1) for laboratory evidence of cytomegalovirus (CMV) infection. The patients were grouped according to clinical criteria as probable CMV encephalitis/polyradiculomyelitis, CMV ret...

journal_title：Journal of neurology

authors： Weber T,Beck R,Stark E,Gerhards J,Korn K,Haas J,Lüer W,Jahn G

更新日期：1994-06-01 00:00:00

abstract：:Brain metastasis is a common complication occurring in about 15-20% of all cancer patients. For the initial management, distinguishing between three types of presentation is essential: de novo brain metastasis, simultaneous presentation of both brain metastasis and the primary tumour (usually lung carcinoma), and the ...

journal_title：Journal of neurology

authors： Vecht CJ

更新日期：1998-03-01 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 a fatal case of neuroleptic malignant syndrome, a muscle sample taken within 1 h of death showed acute myopathic features with absence of muscle glycogen and neutral lipid. These features suggest that hyperpyrexia in this syndrome may be caused by heat production from uncoupled phosphorylation in muscle and imply t...

journal_title：Journal of neurology

authors： Martin DT,Swash M

更新日期：1987-12-01 00:00:00

abstract：:Altered cerebral vasoreactivity (CVR) has been implicated in migraine. To test this hypothesis, we studied CVR as measured by transcranial Doppler ultrasound (TCD) in 11 migraineurs and 12 healthy controls of similar age. Mean flow velocities (MFV) in the middle cerebral artery (MCA) were recorded during a cognitive a...

journal_title：Journal of neurology

authors： Thie A,Carvajal-Lizano M,Schlichting U,Spitzer K,Kunze K

更新日期：1992-07-01 00:00:00

abstract：:Oculomotor dysfunction in Parkinson's disease (PD) is mainly characterized by a fragmentation of memory-guided gaze shifts (target is reached by several hypometric saccades). Since this phenomenon can also be observed in normal subjects, we scrutinized its pathophysiological significance in PD patients. We recorded ho...

journal_title：Journal of neurology

authors： Kimmig H,Haussmann K,Mergner T,Lücking CH

更新日期：2002-06-01 00:00:00

abstract：OBJECTIVE:Neuropsychological impairments are major symptoms of autoimmune limbic encephalitis (LE) epilepsy patients. In LE epilepsy patients with an autoimmune response against intracellular antigens as well as in antibody-negative patients, the antibody findings and magnetic resonance imaging pathology correspond poo...

journal_title：Journal of neurology

authors： Helmstaedter C,Hansen N,Leelaarporn P,Schwing K,Oender D,Widman G,Racz A,Surges R,Becker A,Witt JA

更新日期：2020-08-20 00:00:00

abstract：OBJECTIVES:To determine demographic or disease-related factors that may influence the severity of autonomic dysfunction in idiopathic Parkinson's disease (IPD). METHODS:532 patients with IPD aged between 55 and 75 years were included. Severity of autonomic dysfunction was assessed using a 9-item autonomic dysfunction ...

journal_title：Journal of neurology

authors： Korchounov A,Kessler KR,Yakhno NN,Damulin IV,Schipper HI

更新日期：2005-12-01 00:00:00

abstract：:Multiple System Atrophy (MSA) and idiopathic Parkinson's disease (PD) can be difficult to distinguish. There is an ongoing debate about the diagnostic value of the growth-hormone response to clonidine (CGH-test) in PD and MSA. We investigated whether the CGH-test can identify individual patients in the early stages of...

journal_title：Journal of neurology

authors： Strijks E,van't Hof M,Sweep F,Lenders JW,Oyen WJ,Horstink MW

更新日期：2002-09-01 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 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