Juvenile-onset bulbospinal muscular atrophy with deafness: Vialetta-van Laere syndrome or Madras-type motor neuron disease?

abstract：:The goal of this study is to define the clinical features, pathogenesis and key investigation findings of fasciculation anxiety syndrome in clinicians (FASICS). Twenty consecutive clinicians presenting with fasciculations were prospectively assessed with serial clinical and neurophysiological evaluations. Clinicians w...

journal_title：Journal of neurology

authors： Simon NG,Kiernan MC

更新日期：2013-07-01 00:00:00

abstract：OBJECTIVES:Sporadic (SSP) and hereditary spastic paraplegias (HSP) are clinically and genetically heterogeneous disorders, which are characterised by a slowly progressive spastic paraparesis. Initial symptoms and the rate of progression are variable even among members of the same family. Spastic paraparesis is the majo...

journal_title：Journal of neurology

authors： Klebe S,Stolze H,Kopper F,Lorenz D,Wenzelburger R,Volkmann J,Porschke H,Deuschl G

更新日期：2004-05-01 00:00:00

abstract：:Three cases of Fahr's syndrome are described. All patients had disturbances of calcium metabolism and had had a meningoencephalitis in childhood. It is suggested that gliovascular changes, induced by cerebral inflammation, can later facilitate the occurrence of calcification of the striopallidodentate system when abno...

journal_title：Journal of neurology

authors： Morgante L,Vita G,Meduri M,Di Rosa AE,Galatioto S,Coraci MA,Di Perri R

更新日期：1986-02-01 00:00:00

abstract：:Several studies have reported infection as a possible risk factor for cervical artery dissection (CAD). We retrospectively analyzed several inflammatory parameters of CAD patients with the aim of detecting differences between spontaneous (n = 25) and traumatic (n = 18) CAD. In this case-control study, we observed sign...

journal_title：Journal of neurology

authors： Forster K,Poppert H,Conrad B,Sander D

更新日期：2006-06-01 00:00:00

abstract：OBJECTIVE:Crossed aphasia (CA), usually referred to as an acquired language disturbance, is caused by a lesion in the cerebral hemisphere ipsilateral to the dominant hand, and the exact mechanism is not clear. The development of handedness is influenced by education and training and the impact of habitualization, while...

journal_title：Journal of neurology

authors： Tan X,Guo Y,Dun S,Sun H

更新日期：2018-07-01 00:00:00

abstract：:This study aimed at identifying gender-specific differences in stroke knowledge, stroke risk perception and the educational effects of a multimodal educational intervention. We performed computer-assisted telephone surveys among an average sample of 500 members of the general public (44.0% male, 56.0% female), before ...

journal_title：Journal of neurology

authors： Marx JJ,Klawitter B,Faldum A,Eicke BM,Haertle B,Dieterich M,Nedelmann M

更新日期：2010-03-01 00:00:00

abstract：:Lipids were extracted from brains of a patient with membranous lipodystrophy (ML) and three normal patients and the neutral lipid and sphingolipid constituents were investigated. The storage of a large amount of free fatty acid was observed in the ML brain, but no cholesterol ester was found. Total lipid, cholesterol ...

journal_title：Journal of neurology

authors： Ohtani Y,Miura S,Tamai Y,Kojima H,Kashima H

更新日期：1979-03-22 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：:The cause of idiopathic intracranial hypertension (IIH) remains unknown, and no consensus exists on how patients should be monitored and treated. Acetazolamide is a common treatment but has never been examined in a randomised controlled trial. The objectives of this pilot trial are to prospectively evaluate the use of...

journal_title：Journal of neurology

authors： Ball AK,Howman A,Wheatley K,Burdon MA,Matthews T,Jacks AS,Lawden M,Sivaguru A,Furmston A,Howell S,Sharrack B,Davies MB,Sinclair AJ,Clarke CE

更新日期：2011-05-01 00:00:00

abstract：:A 56-year-old woman with coeliac disease developed myoclonus of cortical origin and palatal myoclonus with lesions of subcortical white matter on magnetic resonance imaging. Myoclonus can thus be a prominent feature of coeliac disease encephalopathy. A slight vitamin E deficiency was found but does not satisfactorily ...

journal_title：Journal of neurology

authors： Tison F,Arne P,Henry P

更新日期：1989-07-01 00:00:00

abstract：BACKGROUND:Classifying and diagnosing peripheral vestibular disorders based on their symptoms is challenging due to possible symptom overlap or atypical clinical presentation. To improve the diagnostic trajectory, gadolinium-based contrast-enhanced magnetic resonance imaging of the inner ear is nowadays frequently used...

journal_title：Journal of neurology

authors： van der Lubbe MFJA,Vaidyanathan A,Van Rompaey V,Postma AA,Bruintjes TD,Kimenai DM,Lambin P,van Hoof M,van de Berg R

更新日期：2020-12-01 00:00:00

abstract：:Fatigue is an important contributor to quality of life in patients who survive aneurysmal subarachnoid hemorrhage (SAH), but the determinants of this fatigue are unclear. We assessed the occurrence of fatigue 1 year after SAH and its relation to physical or cognitive impairment, passive coping, and emotional problems,...

journal_title：Journal of neurology

authors： Passier PE,Post MW,van Zandvoort MJ,Rinkel GJ,Lindeman E,Visser-Meily JM

更新日期：2011-06-01 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：:In 12 ambulant patients with a clinical diagnosis of probable Alzheimer's disease, a 12-week, double-blind, placebo-controlled study with 100 mg/day tetrahydroaminoacridine (THA) and 10 g/day lecithin is reported. The aim of the study was to find whether treatment would result in an improvement of cognition, of functi...

journal_title：Journal of neurology

authors： Weinstein HC,Teunisse S,van Gool WA

更新日期：1991-02-01 00:00:00

abstract：:Multiple system atrophy and progressive supranuclear palsy are disabling neurodegenerative disorders, also known as atypical parkinsonian syndromes. Currently, no health economic evaluations of these diseases are available. The objective of this study was to evaluate disease-related costs in German patients with multi...

journal_title：Journal of neurology

authors： Winter Y,Stamelou M,Cabanel N,Sixel-Döring F,Eggert K,Höglinger GU,Herting B,Klockgether T,Reichmann H,Oertel WH,Dodel R,Spottke AE

更新日期：2011-10-01 00:00:00

abstract：:Weight loss is a common symptom of Parkinson's disease and is associated with impaired quality of life. Predictors of weight loss have not been studied in large clinical cohorts. We previously observed an association between change in body mass index and change in Unified Parkinson's Disease Rating Scale (UPDRS) motor...

journal_title：Journal of neurology

authors： Wills AM,Li R,Pérez A,Ren X,Boyd J,NINDS NET-PD Investigators.

更新日期：2017-08-01 00:00:00

abstract：BACKGROUND:Cognitive impairment is a debilitating symptom experienced by ~ 50% of multiple sclerosis patients, with processing speed (PS) and memory most affected. Until now, the field has considered cognition in a binary fashion: patients are designated as impaired or not impaired. This designation is typically arrive...

journal_title：Journal of neurology

authors： Leavitt VM,Tosto G,Riley CS

更新日期：2018-03-01 00:00:00

abstract：:We investigated the muscle strength and motor unit (MU) territory of five patients with postpolio syndrome (PPS), six stable patients with prior poliomyelitis, and five healthy volunteers. The MU territory was assessed by measuring amplitudes of motor unit potentials (MUPs) recorded by the macro EMG technique. The inv...

journal_title：Journal of neurology

authors： Ivanyi B,Ongerboer de Visser BW,Nelemans PJ,de Visser M

更新日期：1994-12-01 00:00:00

abstract：:Stavudine (2',3'-didehydro-3'deoxythymidine) is a pyrimidine analogue that may be of great value in combination antiretroviral therapy (ART) for treating patients infected with human immunodeficiency virus type 1 (HIV-1). We assessed potential neurotoxic side effects by comparing peripheral nerve function in patients ...

journal_title：Journal of neurology

authors： von Giesen HJ,Hefter H,Jablonowski H,Arendt G

更新日期：1999-03-01 00:00:00

abstract：:In recent years, it has been widely recognised that modern doctors are not receiving the training they need to provide appropriate and effective palliative care. Deficiencies in care have been reported in several formal studies and, anecdotally, in many professional and popular lay publications. Doctors themselves hav...

journal_title：Journal of neurology

authors： Doyle D

更新日期：1997-10-01 00:00:00

abstract：BACKGROUND:Amyotrophic lateral sclerosis (ALS) is a fatal neurodegenerative disease that still lacks reliable diagnostic biomarkers. This study aims to evaluate the diagnostic and prognostic potential of CSF total Tau (t-Tau), phospho-Tau (p-Tau) and p-Tau/t-Tau ratio in ALS patients using CSF neurofilament light (NFL)...

journal_title：Journal of neurology

authors： Scarafino A,D'Errico E,Introna A,Fraddosio A,Distaso E,Tempesta I,Morea A,Mastronardi A,Leante R,Ruggieri M,Mastrapasqua M,Simone IL

更新日期：2018-10-01 00:00:00

abstract：:To define the incidence and type of neurological complications and associated factors, we reviewed 41 consecutive patients who had 45 procedures for liver transplantation. Encephalopathy occurred after 28 procedures (62%) with immediate onset and no significant recovery before death or re-transplantation in 11 (24%), ...

journal_title：Journal of neurology

authors： Ghaus N,Bohlega S,Rezeig M

更新日期：2001-12-01 00:00:00

abstract：OBJECTIVE:Childhood arterial ischaemic stroke (AIS) is rare, but causes significant morbidity and mortality. We aimed to investigate incidence, age-dependent clinical presentation, and risk factors and to discuss the medical care situation in Germany. METHODS:This prospective epidemiological study was conducted via ES...

journal_title：Journal of neurology

authors： Gerstl L,Weinberger R,Heinen F,Bonfert MV,Borggraefe I,Schroeder AS,Tacke M,Landgraf MN,Vill K,Kurnik K,Sorg AL,Olivieri M

更新日期：2019-12-01 00:00:00

abstract：:It is now 10 years since the first report of mutations in the presenilin genes that were deterministic for familial autosomal dominant Alzheimer's disease. The most common of these mutations occurs in the presenilin-1 gene (PSEN1) located on chromosome 14. In the ensuing decade, more than 100 PSEN1 mutations have been...

journal_title：Journal of neurology

authors： Larner AJ,Doran M

更新日期：2006-02-01 00:00:00

abstract：OBJECTIVE:Five different calliper methods for assessing the degree of carotid artery stenosis and visual estimation ("eyeballing") of postmortem carotid arteriograms were compared with the planimetric gold standard of the area reduction at the site of the stenosis. METHODS:During autopsy 53 carotid specimens were remo...

journal_title：Journal of neurology

authors： Schulte-Altedorneburg G,Droste DW,Kollár J,Beyna T,Felszeghy S,Módis L,Hegedüs C,Ringelstein EB,Csiba L

更新日期：2005-05-01 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：:We studied the diagnostic value of computed tomographic angiography (CTA) in the posterior circulation as a noninvasive substitute for intra-arterial digital subtraction angiography (DSA). We prospectively investigated 103 patients with acute stroke in the posterior circulation. All patients underwent CTA and Doppler ...

journal_title：Journal of neurology

authors： Graf J,Skutta B,Kuhn FP,Ferbert A

更新日期：2000-10-01 00:00:00

abstract：:Anti-N-Methyl-D-Aspartate receptor (NMDAR) encephalitis is an acute neurological disorder affecting children and adults. We aimed to compare the clinical characteristics, treatments, and outcomes between children and adults with anti-NMDAR encephalitis and to assess the probable risk factors. In this observational stu...

journal_title：Journal of neurology

authors： Huang Q,Wu Y,Qin R,Wei X,Ma M

更新日期：2016-12-01 00:00:00

abstract：:The article Diagnostic accuracy of a smartphone bedside test to assess the fixation suppression of the vestibulo‑ocular reflex: when nothing else matters, written by Florin Gandor, Manfred Tesch, Hannelore Neuhauser, Doreen Gruber, Hans‑Jochen Heinze, Georg Ebersbach and Thomas Lempert, was originally published electr...

journal_title：Journal of neurology

authors： Gandor F,Tesch M,Neuhauser H,Gruber D,Heinze HJ,Ebersbach G,Lempert T

更新日期：2020-10-01 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