Congenital isolated hemifacial hyperplasia.

abstract：:The MS-ID (Multiple Sclerosis Information Dividend) project was initiated by the European Multiple Sclerosis Platform (EMSP) in 2007 in order to identify and address major inequalities of MS treatment and care and thus eliminate disparities across the EU. One major approach to reach these goals in the longer term is t...

journal_title：Journal of neurology

authors： Flachenecker P,Khil L,Bergmann S,Kowalewski M,Pascu I,Pérez-Miralles F,Sastre-Garriga J,Zwingers T

更新日期：2010-10-01 00:00:00

abstract：:Silver syndrome/SPG17 is a motor manifestation of mutations in the BSCL2 gene and usually presents as a complicated form of hereditary spastic paraplegia (HSP). We present clinical data, follow-up, and genetic results of seven patients with Silver syndrome/SPG17 including a family with a variable intrafamilial phenoty...

journal_title：Journal of neurology

authors： Musacchio T,Zaum AK,Üçeyler N,Sommer C,Pfeifroth N,Reiners K,Kunstmann E,Volkmann J,Rost S,Klebe S

更新日期：2017-01-01 00:00:00

abstract：INTRODUCTION:Whether different mechanisms, particularly ocular pathology, could lead to the emergence of visual hallucinations (VH) (defined as false perceptions with no external stimulus) versus visual illusions (VI) (defined as a misperception of a real stimulus) in Parkinson's disease (PD) remains debated. We assess...

journal_title：Journal of neurology

authors： Marques A,Beze S,Pereira B,Chassain C,Monneyron N,Delaby L,Lambert C,Fontaine M,Derost P,Debilly B,Rieu I,Lewis SJG,Chiambaretta F,Durif F

更新日期：2020-10-01 00:00:00

abstract：BACKGROUND:Contactin-associated protein-like 2 (CASPR2) autoantibody disease has a variable clinical phenotype. We present a case report and performed a systematic review of the literature to summarize: (1) the clinical phenotype of patients with CASPR2 antibodies, (2) the findings in neurological investigations, and (...

journal_title：Journal of neurology

authors： Boyko M,Au KLK,Casault C,de Robles P,Pfeffer G

更新日期：2020-04-01 00:00:00

abstract：:Acanthocytosis occurs because of ultrastructural abnormalities of the erythrocyte membranous skeleton resulting in reduced membrane fluidity. At least three hereditary neurological conditions are associated with it, although as yet the pathogenesis of the neurological features is unknown. In abetalipoproteinaemia, an ...

journal_title：Journal of neurology

authors： Stevenson VL,Hardie RJ

更新日期：2001-02-01 00:00:00

abstract：:This study aims to explore the clinical features, radiological findings, management and the factors influencing prognosis in PCR-confirmed herpes simplex virus encephalitis (HSE). This is a retrospective review of consecutive patients diagnosed with HSE at Mayo Clinic, Rochester, MN, between January 1995 and December ...

journal_title：Journal of neurology

authors： Singh TD,Fugate JE,Hocker S,Wijdicks EFM,Aksamit AJ Jr,Rabinstein AA

更新日期：2016-02-01 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：:Left-handedness is most often genetic, but may also follow early, localised damage to the developing brain. This so-called "pathological" left-handedness syndrome is often associated with right hemisphere speech dominance. To find out whether verbal laterality or handedness were affected by congenital, intracranial ar...

journal_title：Journal of neurology

authors： Wester K,Hugdahl K

更新日期：2003-01-01 00:00:00

abstract：BACKGROUND:Thymoma is frequently associated with paraneoplastic diseases (PDs), most commonly with myasthenia gravis (MG). This association is thought to depend on thymoma's capacity to produce and export T lymphocytes. OBJECTIVE:(1) To determine the frequency and characteristics of thymoma-associated PDs other than M...

journal_title：Journal of neurology

authors： Evoli A,Minicuci GM,Vitaliani R,Battaglia A,Della Marca G,Lauriola L,Fattorossi A

更新日期：2007-06-01 00:00:00

abstract：:Treatment of multiple sclerosis (MS) with interferon beta (IFNbeta) can be associated with the development of binding antibodies (BAbs) and neutralizing antibodies (NAbs). NAbs are a subset of BAbs that prevent IFNbeta from effectively binding to or activating its receptor, thereby blocking its biologic effects and in...

journal_title：Journal of neurology

authors： Deisenhammer F,Schellekens H,Bertolotto A

更新日期：2004-06-01 00:00:00

abstract：:Gastrointestinal dysfunction, especially constipation, is one of the major problems in the daily life of patients with Parkinson's disease (PD). About 60 to 80% of PD patients suffer from constipation. Several studies have proven that constipation appears about 10 to 20 years prior to motor symptoms. More recently, Ab...

journal_title：Journal of neurology

authors： Ueki A,Otsuka M

更新日期：2004-10-01 00:00:00

abstract：BACKGROUND AND PURPOSE:Protein Z (PZ), a vitamin Kdependent protein, plays a role in inhibiting coagulation. Its plasma level or PZ gene polymorphisms have been discussed as risk factors for stroke with conflicting results reported between various studies. Only one of these polymorphisms was studied in a cohort of pati...

journal_title：Journal of neurology

authors： Le Cam-Duchez V,Bagan-Triquenot A,Barbay V,Mihout B,Borg JY

更新日期：2008-10-01 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

abstract：OBJECTIVE:To assess the association of Medial Temporal lobe Atrophy (MTA) and White Matter Hyperintensities (WMHs) with gray matter perfusion in Mild Cognitive Impairment (MCI). METHODS:56 MCI patients (age = 69.3 +/- 7.0, 32 females) underwent brain MR scan and (99m)Tc ECD SPECT. We evaluated MTA according to Schelte...

journal_title：Journal of neurology

authors： Caroli A,Testa C,Geroldi C,Nobili F,Guerra UP,Bonetti M,Frisoni GB

更新日期：2007-08-01 00:00:00

abstract：BACKGROUND:Stroke has a major impact on survivors. Our study was designed to describe the mental status and health-related quality of life (HRQoL) in long-term survivors of TIA or minor ischaemic stroke (MIS) and evaluate associations of mental and physical factors with HR-QoL. METHODS:A random sample of the 10-year s...

journal_title：Journal of neurology

authors： van Wijk I,Gorter JW,Lindeman E,Kappelle LJ,van Gijn J,Koudstaal PJ,Algra A

更新日期：2007-08-01 00:00:00

abstract：OBJECTIVE:To characterize the relation between brain functional connectivity and disability in patients with multiple sclerosis; to investigate the existence of critical values of both disability and functional connectivity corresponding to exhaustion of functional adaptive mechanisms. METHODS:Hundred-and-nineteen pat...

journal_title：Journal of neurology

authors： Tommasin S,De Giglio L,Ruggieri S,Petsas N,Giannì C,Pozzilli C,Pantano P

更新日期：2018-12-01 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：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：BACKGROUND:Putaminal iron deposition is a histopathological feature of multiple system atrophy (MSA), which is not observed in patients with idiopathic Parkinson's disease (PD). T2*-weighted magnetic resonance imaging (MRI) gradient echo (GE) sequences are sensitive for paramagnetic susceptibility changes and therefore...

journal_title：Journal of neurology

authors： von Lewinski F,Werner C,Jörn T,Mohr A,Sixel-Döring F,Trenkwalder C

更新日期：2007-09-01 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：:Degeneration of central dopaminergic neurons is the most characteristic pathological feature of Parkinson's disease. It remains to be established to what extent these lesions explain the motor, cognitive and affective disorders observed in patients, but there are now some interesting clues to a possible solution. ...

journal_title：Journal of neurology

authors： Dubois B,Pillon B,Agid Y

更新日期：1992-01-01 00:00:00

abstract：OBJECTIVES:Recent retrospective studies found sleep disorders, including obstructive sleep apnea and its symptoms to occur more often in patients following aneurysmal subarachnoid hemorrhage, but studies investigating the incidence of subarachnoid hemorrhage in patients with diagnosed obstructive sleep apnea [OSA] comp...

journal_title：Journal of neurology

authors： Zaremba S,Albus L,Schuss P,Vatter H,Klockgether T,Güresir E

更新日期：2019-06-01 00:00:00

abstract：OBJECTIVE:To characterize the clinical symptoms and magnetic resonance imaging (MRI) findings of unilateral cortical FLAIR-hyperintense Lesions in Anti-MOG-associated Encephalitis with Seizures (FLAMES). METHODS:This is a case report and systematic review of the literature to identify cases of unilateral cortical FLAM...

journal_title：Journal of neurology

authors： Budhram A,Mirian A,Le C,Hosseini-Moghaddam SM,Sharma M,Nicolle MW

更新日期：2019-10-01 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：:Fingolimod safety and efficacy data in relapsing-remitting multiple sclerosis (RRMS) are available up to 5 years, from an extension of a randomized, placebo-controlled, double-blind, phase 2 study, at a dose higher (5.0/1.25 mg) than the approved dose of 0.5 mg. The objective of the study is to present the end-of-stud...

journal_title：Journal of neurology

authors： Montalban X,Comi G,Antel J,O'Connor P,de Vera A,Cremer M,Sfikas N,von Rosenstiel P,Kappos L

更新日期：2015-12-01 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：:Applying microarray technology to identify new diagnostic and prognostic markers in peripheral blood cells (PBC) after therapeutic intervention opens great perspectives regarding patient subclassification. Three recombinant products of the pleiotropic agent interferon beta (rIFN-beta) are available for disease modifyi...

journal_title：Journal of neurology

authors： Goertsches RH,Hecker M,Zettl UK

更新日期：2008-12-01 00:00:00

abstract：:The International Cooperative Ataxia Rating Scale (ICARS) is a 100-point semiquantitative scale designed primarily to assess cerebellar dysfunction. However, little is known of the metric properties of this scale. We assessed the ICARS by rating the severity of cerebellar dysfunction in 27 patients with spinocerebella...

journal_title：Journal of neurology

authors： Wang PS,Liu RS,Yang BH,Soong BW

更新日期：2007-06-01 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：:Autonomic dysfunction is frequently observed in patients with multiple sclerosis (MS), but clinical studies disagree on the frequency and type of abnormalities in autonomic function tests. Orthostatic dizziness (OD) has been reported in up to 49% of patients, but the pathophysiological mechanisms are poorly understood...

journal_title：Journal of neurology

authors： Flachenecker P,Wolf A,Krauser M,Hartung HP,Reiners K

更新日期：1999-07-01 00:00:00