The R495W mutation in SPG3A causes spastic paraplegia associated with axonal neuropathy.

abstract：:Evoked urethral and anal responses are produced by electrical stimulation of penis, bladder neck and anus. Latency and duration of the responses after bladder neck and anal stimulation are greatly dependent on stimulus parameters, suggesting a polysynaptic reflex; penile stimulation probably involves an oligosynaptic ...

journal_title：Journal of neurology

authors： Vereecken RL,De Meirsman J,Puers B,Van Mulders J

更新日期：1982-01-01 00:00:00

abstract：BACKGROUND:Despite advances in the field, diagnosis and management of the wide spectrum of neurological events post allogeneic hematopoietic cell transplantation (alloHCT) remain challenging. Therefore, we investigated their incidence, diagnosis, management and long-term prognosis in alloHCT recipients. METHODS:We ret...

journal_title：Journal of neurology

authors： Sakellari I,Gavriilaki E,Papagiannopoulos S,Gavriilaki M,Batsis I,Mallouri D,Vardi A,Constantinou V,Masmanidou M,Yannaki E,Smias C,Geroukis T,Kazis D,Kimiskidis V,Anagnostopoulos A

更新日期：2019-08-01 00:00:00

abstract：UNLABELLED:The aim of the study was to assess adjunctive intravenous dexamethasone in adult community-acquired bacterial meningitis (BM) in daily practice. Analysis of consecutive patients (1990-2009) with acute community-acquired bacterial meningitis in a single centre in Zagreb, Croatia, N = 304. Adjusted relative ri...

journal_title：Journal of neurology

authors： Peterković V,Trkulja V,Kutleša M,Krajinović V,Lepur D

更新日期：2012-02-01 00:00:00

abstract：:The effect of phospholipase A1 of human brain on 1,2-diacyl-sn-glycero-3-phosphorylcholine, -ethanolamine and -serine, specifically labelled with different fatty acids at either the 1 or 2 position, was determined in subacute sclerosing panencephalitis. An increase of approximately 40% in the specific activity of phos...

journal_title：Journal of neurology

authors： Morgott UJ,Woelk H

更新日期：1975-01-01 00:00:00

abstract：:Spinal muscular atrophy (SMA) is an autosomal recessive disorder that affects motor neurons. It is caused by mutations in the survival motor neuron gene 1 (SMN1). The SMN2 gene, which is the highly homologous SMN1 copy that is present in all the patients, is unable to prevent the disease. An SMN2 dosage method was app...

journal_title：Journal of neurology

authors： Cuscó I,Barceló MJ,Rojas-García R,Illa I,Gámez J,Cervera C,Pou A,Izquierdo G,Baiget M,Tizzano EF

更新日期：2006-01-01 00:00:00

abstract：BACKGROUND:To date, insertable cardiac monitors (ICMs) are the most effective method for the detection of occult atrial fibrillation (AF) in cryptogenic stroke. The overall detection rate after 12 months, however, is low and ranges between 12.4 and 33.3%, even if clinical predictors are considered. Ischemic stroke pati...

journal_title：Journal of neurology

authors： Vollmuth C,Stoesser S,Neugebauer H,Hansel A,Dreyhaupt J,Ludolph AC,Kassubek J,Althaus K

更新日期：2019-12-01 00:00:00

abstract：OBJECTIVE:Widespread metabolic changes are seen in neurodegenerative disease and could be used as biomarkers for diagnosis and disease monitoring. They may also reveal disease mechanisms that could be a target for therapy. In this study we looked for blood-based biomarkers in syndromes associated with frontotemporal lo...

journal_title：Journal of neurology

authors： Murley AG,Jones PS,Coyle Gilchrist I,Bowns L,Wiggins J,Tsvetanov KA,Rowe JB

更新日期：2020-08-01 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:D-dimer levels are used in several clinical settings, such as in predicting venous thrombosis, cardioembolic stroke and cancer status. In the present study, we investigated the associations between plasma D-dimer levels at admission, clinical characteristics and mortality at discharge in cryptogenic stroke p...

journal_title：Journal of neurology

authors： Nezu T,Kitano T,Kubo S,Uemura J,Yamashita S,Iwanaga T,Inoue T,Hosomi N,Maruyama H,Matsumoto M,Kimura K,Yagita Y

更新日期：2018-03-01 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：:The SOX10 transcription factor is involved in development of neural crest derivatives and fate determination in glial cells. SOX10 mutations have been found in patients with intestinal aganglionosis and depigmentation with deafness (Waardenburg-Hirschsprung). Associated neurological signs have been reported in some ca...

journal_title：Journal of neurology

authors： Pingault V,Bondurand N,Le Caignec C,Tardieu S,Lemort N,Dubourg O,Le Guern E,Goossens M,Boespflug-Tanguy O,Clinical E.N.B.D.D. Clinical European Network on Brain Dysmyelinating Disease.

更新日期：2001-06-01 00:00:00

abstract：:Cognitive impairment belongs to the core symptoms in MS affecting quality of life, self-esteem, and social as well as occupational functioning. Due to this high impact on patients' well-being efficient treatment concepts are required. Imaging studies on cognition have shown that functional reorganisation takes place s...

journal_title：Journal of neurology

authors： Penner IK,Opwis K,Kappos L

更新日期：2007-05-01 00:00:00

abstract：:In this review, we describe the wide clinical spectrum of features that can be seen in multiple system atrophy (MSA) with a focus on the premotor phase and the non-motor symptoms providing an up-to-date overview of the current understanding in this fast-growing field. First, we highlight the non-motor features at dise...

journal_title：Journal of neurology

authors： Chelban V,Catereniuc D,Aftene D,Gasnas A,Vichayanrat E,Iodice V,Groppa S,Houlden H

更新日期：2020-09-01 00:00:00

abstract：:We aimed to assess the intrasubject reproducibility of a technology-based levodopa (LD) therapeutic monitoring protocol administered in supervised versus unsupervised conditions in patients with Parkinson's disease (PD). The study design was pilot, intrasubject, single center, open and prospective. Twenty patients wer...

journal_title：Journal of neurology

authors： Lopane G,Mellone S,Corzani M,Chiari L,Cortelli P,Calandra-Buonaura G,Contin M

更新日期：2018-06-01 00:00:00

abstract：:Thirty-five patients with intraventricular haemorrhage shown by CT underwent cerebral arteriography. In 15 patients arteriography showed an occlusion of a carotid or middle cerebral artery. Secondary bleeding into an infarction caused the intraventricular haemorrhage. All 15 patients were aged over 40 years. ...

journal_title：Journal of neurology

authors： Cohn DF,Avrahami E

更新日期：1983-01-01 00:00:00

abstract：BACKGROUND AND OBJECTIVE:The number of neurological second opinions (SO) and tertiary referrals (TR) is increasing. The main purpose of this study was to assess whether a day-care admission made a meaningful contribution to standard neurological outpatient care, for a wide range of second opinions and tertiary referral...

journal_title：Journal of neurology

authors： Wieske L,Wijers D,Richard E,Vergouwen MD,Stam J

更新日期：2008-11-01 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：:Amyotrophic lateral sclerosis (ALS) is a fatal neurodegenerative disease which was thought to be untreatable. However, recent evidence in both experimental animals and men indicates that antiglutamatergic strategies are the first to have an influence on its pathogenesis and slow down the disease process. Since the eff...

journal_title：Journal of neurology

authors： Ludolph AC

更新日期：2000-12-01 00:00:00

abstract：OBJECTIVE:To identify factors that impact on the ability of patients with multiple sclerosis (MS) to remain in work in order to make recommendations for future clinical management. METHODS:Cross-sectional studies using qualitative (phase one) and quantitative (phase two) methods. In phase one, 62 patients were intervi...

journal_title：Journal of neurology

authors： O'Connor RJ,Cano SJ,Ramió i Torrentà L,Thompson AJ,Playford ED

更新日期：2005-08-01 00:00:00

abstract：:Muscle glucose-6-phosphate dehydrogenase (G6PD) deficiency is described in four clinically heterogeneous patients: an athlete who developed myoglobinuria after physical exercise; a 7-year-old, mildly mentally retarded boy, who had episodes of dark urine and high creatine kinase; and two brothers of Sardinian origin, t...

journal_title：Journal of neurology

authors： Bresolin N,Bet L,Moggio M,Meola G,Fortunato F,Comi G,Adobbati L,Geremia L,Pittalis S,Scarlato G

更新日期：1989-05-01 00:00:00

abstract：:We describe three patients in whom an isolated sixth nerve palsy was the only clinical symptom or sign of multiple sclerosis (MS). Data were collected prospectively over 6 years on these three patients, who showed no other signs of brainstem dysfunction or prior symptoms; in addition. Retrospective analysis of all pat...

journal_title：Journal of neurology

authors： Barr D,Kupersmith MJ,Turbin R,Bose S,Roth R

更新日期：2000-09-01 00:00:00

abstract：:Cerebrospinal fluid (CSF) levels of interleukin (IL)-6, IL-11 and leukaemia inhibitory factor (LIF) were evaluated in 43 patients with Alzheimer's disease (AD) and 24 patients with frontotemporal lobar degeneration (FTLD) as compared with 30 agematched controls (CON), and correlated with clinical and demographic data ...

journal_title：Journal of neurology

authors： Galimberti D,Venturelli E,Fenoglio C,Guidi I,Villa C,Bergamaschini L,Cortini F,Scalabrini D,Baron P,Vergani C,Bresolin N,Scarpini E

更新日期：2008-04-01 00:00:00

abstract：BACKGROUND:Autosomal recessive spastic ataxia of Charlevoix-Saguenay (ARSACS) is a rare early onset neurodegenerative disease that typically results in ataxia, upper motor neuron dysfunction and sensorimotor peripheral neuropathy. Dysarthria and dysphagia are anecdotally described as key features of ARSACS but the natu...

journal_title：Journal of neurology

authors： Vogel AP,Rommel N,Oettinger A,Stoll LH,Kraus EM,Gagnon C,Horger M,Krumm P,Timmann D,Storey E,Schöls L,Synofzik M

更新日期：2018-09-01 00:00:00

abstract：:Presently, there are more than 50 possible indications for the application of botulinum toxin. In some indications the use of botulinum toxin has already been approved; others are about to be approved. For most of these indications a sufficient number of studies have been published. For rare indications, an insufficie...

journal_title：Journal of neurology

authors： Jost WH,Kohl A

更新日期：2001-04-01 00:00:00

abstract：:We reviewed the records of all patients who had received an epidural catheter for management of chronic cancer pain in a 3-year period (1993-1996). Patients with nervous system infections were identified, and pertinent clinical, radiological (magnetic resonance imaging), and bacteriological data were analyzed. We iden...

journal_title：Journal of neurology

authors： Sillevis Smitt P,Tsafka A,van den Bent M,de Bruin H,Hendriks W,Vecht C,Teng-van de Zande F

更新日期：1999-09-01 00:00:00

abstract：:The Richards-Rundle syndrome (RRS) is characterized by hearing loss, mental deterioration, ataxia, primary hypogonadism and autosomal recessive transmission. In a sibship of six members we found two sisters with RRS together with baldness, impaired GH and PRL secretion after stimulation and different degrees of impair...

journal_title：Journal of neurology

authors： Franceschi M,Parmigiani F,Zamproni P,Cairoli G,Canal N

更新日期：1984-01-01 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：:The safety and efficacy of intravenous thrombolysis (IVT) in dissection-related ischemic stroke (DRIS) has not been established. We sought to determine safety and recovery rates of IVT in DRIS using prospective, international, multicenter data and by conducting a comprehensive meta-analysis of reported case series. We...

journal_title：Journal of neurology

authors： Tsivgoulis G,Zand R,Katsanos AH,Sharma VK,Goyal N,Krogias C,Safouris A,Vadikolias K,Voumvourakis K,Alexandrov AW,Malkoff MD,Alexandrov AV

更新日期：2015-09-01 00:00:00

abstract：:We report a very rare case of Schwartz-Jampel syndrome associated with von Willebrand's disease. This association might be coincidental because of the different modes of inheritance of the two disorders. However, we speculate that there might be some link between the two disorders, for example in the locus of the affe...

journal_title：Journal of neurology

authors： Kuriyama M,Shinmyozu K,Osame M,Kawahira M,Igata A

更新日期：1985-01-01 00:00:00

abstract：:The effects of left- and right-sided hemispheric brain infarction on variability in circadian blood pressure and cardiovascular measures were investigated in 35 patients to test for asymmetry of the sympathetic consequences of stroke. No significant differences regarding age, size of infarction or extent and frequency...

journal_title：Journal of neurology

authors： Sander D,Klingelhöfer J

更新日期：1995-05-01 00:00:00