abstract：:Mal de debarquement (MdD) is a subjective perception of self-motion after exposure to passive motion, in most cases sea travel, hence the name. Mal de debarquement occurs quite frequently in otherwise healthy individuals for a short period of time (several hours). However, in some people symptoms remain for a longer p...

journal_title：Journal of neurology

authors： Van Ombergen A,Van Rompaey V,Maes LK,Van de Heyning PH,Wuyts FL

更新日期：2016-05-01 00:00:00

abstract：:Internuclear ophthalmoplegia (INO) indicates a lesion involving the medial longitudinal fasciculus (MLF) that interconnects the abducens nucleus and medial rectus subnucleus of the oculomotor nuclear complex. In fact, rostral-caudal localization value of the INO is often limited except when it accompanies symptoms and...

journal_title：Journal of neurology

authors： Lee SU,Kim HJ,Park JJ,Kim JS

更新日期：2016-05-01 00:00:00

abstract：:Myasthenia gravis (MG) is the archetypic disorder of both the neuromuscular junction and autoantibody-mediated disease. In most patients, IgG1-dominant antibodies to acetylcholine receptors cause fatigable weakness of skeletal muscles. In the rest, a variable proportion possesses antibodies to muscle-specific tyrosine...

journal_title：Journal of neurology

authors： Binks S,Vincent A,Palace J

更新日期：2016-04-01 00:00:00

abstract：:Our knowledge of the vestibular sensory system, its functional significance for gaze and posture stabilization, and its capability to ensure accurate spatial orientation perception and spatial navigation has greatly benefitted from experimental approaches using a variety of vertebrate species. This review summarizes t...

journal_title：Journal of neurology

authors： Straka H,Zwergal A,Cullen KE

更新日期：2016-04-01 00:00:00

abstract：:Limb-girdle muscular dystrophies (LGMDs) are genetically heterogeneous and the diagnostic work-up including conventional genetic testing using Sanger sequencing remains complex and often unsatisfactory. We performed targeted sequencing of 23 LGMD-related genes and 15 genes in which alterations result in a similar phen...

journal_title：Journal of neurology

authors： Kuhn M,Gläser D,Joshi PR,Zierz S,Wenninger S,Schoser B,Deschauer M

更新日期：2016-04-01 00:00:00

abstract：:Specific mutations in COL6A3 have recently been reported as the cause of isolated recessive dystonia, which is a rare movement disorder. In all patients, at least one mutation was located in Exons 41 and 42. In an attempt to replicate these findings, we assessed by direct sequencing the frequency of rare variants in E...

journal_title：Journal of neurology

authors： Lohmann K,Schlicht F,Svetel M,Hinrichs F,Zittel S,Graf J,Lohnau T,Schmidt A,Mir P,Krause P,Lang AE,Jabusch HC,Wolters A,Kamm C,Zeuner KE,Altenmüller E,Naz S,Chung SJ,Kostic VS,Münchau A,Kühn AA,Brüggemann N,Kl

更新日期：2016-04-01 00:00:00

abstract：:Cerebral venous thrombosis (CVT) affects mainly working-aged individuals. Functional recovery after CVT is generally considered good with about 3/4 of patients achieving short-term independence. However, vascular events, long-term functional outcome, and employment after CVT remain poorly investigated. We identified c...

journal_title：Journal of neurology

authors： Hiltunen S,Putaala J,Haapaniemi E,Tatlisumak T

更新日期：2016-03-01 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：:Mutations in SCN2A cause epilepsy syndromes of variable severity including neonatal-infantile seizures. In one case, we previously described additional childhood-onset episodic ataxia. Here, we corroborate and detail the latter phenotype in three further cases. We describe the clinical characteristics, identify the ca...

journal_title：Journal of neurology

authors： Schwarz N,Hahn A,Bast T,Müller S,Löffler H,Maljevic S,Gaily E,Prehl I,Biskup S,Joensuu T,Lehesjoki AE,Neubauer BA,Lerche H,Hedrich UBS

更新日期：2016-02-01 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：:The aim of this study was to analyze the pattern of magnetic resonance diffusion-weighted imaging (DWI) findings in status epilepticus in terms of clinical characteristics. Participants comprised 106 patients with status epilepticus who were admitted to our hospital and underwent DWI. Forty-five patients (42.5 %) show...

journal_title：Journal of neurology

authors： Nakae Y,Kudo Y,Yamamoto R,Dobashi Y,Kawabata Y,Ikeda S,Yokoyama M,Higashiyama Y,Doi H,Johkura K,Tanaka F

更新日期：2016-01-01 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：: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：: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：:Cerebello-thalamo-cortical circuit has been indicated important for tremor in Parkinson's disease (PD), but the role of dentate nucleus (DN) in parkinsonian tremor remains unclear. To investigate whether DN plays a role in PD tremor, we recruited 50 PD and 29 age-matched health controls (HC). The patients were divided...

journal_title：Journal of neurology

authors： Ma H,Chen H,Fang J,Gao L,Ma L,Wu T,Hou Y,Zhang J,Feng T

更新日期：2015-10-01 00:00:00

abstract：:Parkinson's disease (PD) is preceded by a premotor phase of unknown duration. Dopaminergic degeneration during this phase may lead to subtle cognitive and behavioural changes, such as decreased novelty seeking. Consequently, premotor subjects might be most comfortable in jobs that do not require optimal dopamine level...

journal_title：Journal of neurology

authors： Haaxma CA,Borm GF,van der Linden D,Kappelle AC,Bloem BR

更新日期：2015-09-01 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：:DWI has been described in some reports to be superior to FLAIR in early stage herpes simple virus encephalitis (HSE). Few data exist on detailed topographical MRI analysis in HSE. Our aim was to study DWI and FLAIR, and analyse topographically these sequences in non-neonatal HSE patients with MRI performed within 60 d...

journal_title：Journal of neurology

authors： Renard D,Nerrant E,Lechiche C

更新日期：2015-09-01 00:00:00

abstract：:Unlike most neurodegenerative disorders, individuals at risk from Huntington's disease can be identified prior to the onset of clinical signs of the disease by virtue of it being an autosomal dominant condition. This provides the hypothetical opportunity to delay disease onset and/or slow down the progression of the d...

journal_title：Journal of neurology

authors： Mason S,Barker RA

更新日期：2015-08-01 00:00:00

abstract：:Charcot-Marie-Tooth disease (CMT) is the most common inherited neuropathy with heterogeneous clinical presentation and genetic background. The axonal form (CMT2) is characterised by decreased action potentials indicating primary axonal damage. The underlying pathology involves axonal degeneration which is supposed to ...

journal_title：Journal of neurology

authors： Bansagi B,Antoniadi T,Burton-Jones S,Murphy SM,McHugh J,Alexander M,Wells R,Davies J,Hilton-Jones D,Lochmüller H,Chinnery P,Horvath R

更新日期：2015-08-01 00:00:00

abstract：:The hereditary spastic paraplegias (HSPs) are a group of genetic conditions in which spastic paralysis of the legs is the principal clinical feature. This is caused by a relatively selective distal axonal degeneration involving the longest axons of the corticospinal tracts. Consequently, these conditions provide an op...

journal_title：Journal of neurology

authors： Hensiek A,Kirker S,Reid E

更新日期：2015-07-01 00:00:00

abstract：:Aquaporin-4 antibody (AQP4-Ab)-positive neuromyelitis optica spectrum disorder (NMOSD) is a rare but often severe autoimmune disease with median onset around 40 years of age. We report characteristics of three very-late-onset NMOSD (including complete NMO) patients >75 years of age, in whom this diagnosis initially se...

journal_title：Journal of neurology

authors： Krumbholz M,Hofstadt-van Oy U,Angstwurm K,Kleiter I,Jarius S,Paul F,Aktas O,Buchholz G,Kern P,Straube A,Kümpfel T

更新日期：2015-05-01 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：:Unilateral mesial temporal lobe epilepsy (MTLE) has been associated with reduced amygdala responsiveness to fearful faces. However, the effect of unilateral MTLE on empathy-related brain responses in extra-amygdalar regions has not been investigated. Using functional magnetic resonance imaging, we measured empathy-rel...

journal_title：Journal of neurology

authors： Toller G,Adhimoolam B,Grunwald T,Huppertz HJ,Kurthen M,Rankin KP,Jokeit H

更新日期：2015-03-01 00:00:00

abstract：:Atrial fibrillation (AF) is a strong risk factor for first-ever stroke and stroke recurrence. The detection rate is low and detection is often costly and time-consuming. We evaluated the diagnostic yield of an external loop recorder (ELR) in patients with acute ischemic stroke or TIA, and assessed factors that are ass...

journal_title：Journal of neurology

authors： Plas GJ,Bos J,Velthuis BO,Scholten MF,den Hertog HM,Brouwers PJ

更新日期：2015-03-01 00:00:00

abstract：:It has been approximately 50 years since neurologists were introduced to the entities, "progressive supranuclear palsy" and "corticobasal degeneration". Since the two seminal publications, there have been significant advancements in our understanding of these two neurodegenerative diseases, particularly the fact that ...

journal_title：Journal of neurology

authors： Josephs KA

更新日期：2015-03-01 00:00:00

abstract：:Polysomnography (PSG) is considered the gold standard for diagnosis of non-rapid eye movement (NREM) parasomnias, however its diagnostic yield has been rarely reported. We aimed to assess the diagnostic value of polysomnography in different categories of patients with suspected NREM parasomnia and define variables tha...

journal_title：Journal of neurology

authors： Fois C,Wright MA,Sechi G,Walker MC,Eriksson SH

更新日期：2015-02-01 00:00:00

abstract：:Various ancillary investigations can assist clinicians in the differential diagnosis of patients with parkinsonism. It is unknown which test offers greatest diagnostic value in clinical practice. We included 156 consecutive patients with parkinsonism, but with an initially uncertain diagnosis. At baseline, all patient...

journal_title：Journal of neurology

authors： Aerts MB,Esselink RA,Abdo WF,Meijer FJ,Drost G,Norgren N,Janssen MJ,Borm GF,Bloem BR,Verbeek MM

更新日期：2015-02-01 00:00:00

abstract：:We assessed the prevalence of vertebral artery (VA) stenosis or occlusion and its influence on outcome in patients with acute basilar artery occlusion (BAO). We studied 141 patients with acute BAO enrolled in the Basilar Artery International Cooperation Study (BASICS) registry of whom baseline CT angiography (CTA) of ...

journal_title：Journal of neurology

authors： Compter A,van der Hoeven EJ,van der Worp HB,Vos JA,Weimar C,Rueckert CM,Kappelle LJ,Algra A,Schonewille WJ,BASICS Study Group.

更新日期：2015-02-01 00:00:00

abstract：:Predicting unfavorable outcome is of paramount importance in clinical decision making. Accordingly, we designed this multinational study, which provided the largest case series of tuberculous meningitis (TBM). 43 centers from 14 countries (Albania, Croatia, Denmark, Egypt, France, Hungary, Iraq, Italy, Macedonia, Roma...

journal_title：Journal of neurology

authors： Erdem H,Ozturk-Engin D,Tireli H,Kilicoglu G,Defres S,Gulsun S,Sengoz G,Crisan A,Johansen IS,Inan A,Nechifor M,Al-Mahdawi A,Civljak R,Ozguler M,Savic B,Ceran N,Cacopardo B,Inal AS,Namiduru M,Dayan S,Kayabas U,Par

更新日期：2015-01-01 00:00:00

abstract：:The objective was to identify factors associated with decisions made by patients with amyotrophic lateral sclerosis (ALS) to accept or decline non-invasive ventilation (NIV) and/or gastrostomy in a prospective population-based study. Twenty-one people with ALS, recruited from the South-East ALS Register who made an in...

journal_title：Journal of neurology

authors： Greenaway LP,Martin NH,Lawrence V,Janssen A,Al-Chalabi A,Leigh PN,Goldstein LH

更新日期：2015-01-01 00:00:00

abstract：:Freezing of gait (FOG) is a disabling motor symptom experienced by a large proportion of patients with Parkinson's disease (PD). While it is known that FOG contributes to lower health-related quality of life (HRQoL), previous studies have not accounted for other important factors when measuring the specific impact of ...

journal_title：Journal of neurology

authors： Walton CC,Shine JM,Hall JM,O'Callaghan C,Mowszowski L,Gilat M,Szeto JY,Naismith SL,Lewis SJ

更新日期：2015-01-01 00:00:00

abstract：:Uric acid (UA) is reduced in multiple sclerosis (MS), and possibly relates to MS outcomes, with lower UA levels in subjects experiencing a relapse or presenting higher disability scores. The present retrospective longitudinal study evaluated UA variations in MS, in relation to clinical relapses, disability progression...

journal_title：Journal of neurology

authors： Moccia M,Lanzillo R,Costabile T,Russo C,Carotenuto A,Sasso G,Postiglione E,De Luca Picione C,Vastola M,Maniscalco GT,Palladino R,Brescia Morra V

更新日期：2015-01-01 00:00:00

abstract：:Normal pressure hydrocephalus (NPH) is characterised by gait disturbance, urinary incontinence and dementia. Even though dementia is a cardinal symptom of NPH, there is few data available concerning cognitive functioning. The aim of this observational case-control study was to evaluate the use of neuropsychological (N...

journal_title：Journal of neurology

authors： Schmidt H,Elster J,Eckert I,Wiefek J,Paulus W,von Steinbuechel N,Abatih EN,Blocher J

更新日期：2014-12-01 00:00:00

abstract：:Progressive multifocal leukoencephalopathy (PML) is a subacute demyelinating disease of the brain caused by the JC virus that occurs mainly in immunocompromised patients. The prognosis is very poor. As the lesion looks like non- specific leukoencephalopathy, making a diagnosis at the early stage is very difficult. We ...

journal_title：Journal of neurology

authors： Shirai S,Yabe I,Kano T,Shimizu Y,Sasamori T,Sato K,Hirotani M,Nonaka T,Takahashi I,Matsushima M,Minami N,Nakamichi K,Saijo M,Hatanaka KC,Shiga T,Tanaka S,Sasaki H

更新日期：2014-12-01 00:00:00

abstract：:PNPLA6 mutations, known to be associated with the development of motor neuron phenotypes, have recently been identified in families with Boucher-Neuhäuser syndrome. Boucher-Neuhäuser is a rare autosomal recessive syndrome characterized by the co-occurrence of cerebellar ataxia, hypogonadotropic hypogonadism, and chori...

journal_title：Journal of neurology

authors： Deik A,Johannes B,Rucker JC,Sánchez E,Brodie SE,Deegan E,Landy K,Kajiwara Y,Scelsa S,Saunders-Pullman R,Paisán-Ruiz C

更新日期：2014-12-01 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：:Inherited ataxias are heterogeneous disorders affecting both children and adults, with over 40 different causative genes, making molecular genetic diagnosis challenging. Although recent advances in next-generation sequencing have significantly improved mutation detection, few treatments exist for patients with inherit...

journal_title：Journal of neurology

authors： Balreira A,Boczonadi V,Barca E,Pyle A,Bansagi B,Appleton M,Graham C,Hargreaves IP,Rasic VM,Lochmüller H,Griffin H,Taylor RW,Naini A,Chinnery PF,Hirano M,Quinzii CM,Horvath R

更新日期：2014-11-01 00:00:00

abstract：:Recessive mutations in GJC2, the gene-encoding connexin 47 (Cx47), cause Pelizaeus-Merzbacher-like disease type 1, a severe dysmyelinating disorder. One recessive mutation (p.Ile33Met) has been associated with a much milder phenotype--hereditary spastic paraplegia type 44. Here, we present evidence that a novel Arg98L...

journal_title：Journal of neurology

authors： Abrams CK,Scherer SS,Flores-Obando R,Freidin MM,Wong S,Lamantea E,Farina L,Scaioli V,Pareyson D,Salsano E

更新日期：2014-10-01 00:00:00

abstract：:Familial paroxysmal exercise-induced dyskinesia (PED) is a rare movement disorder that is mostly caused by mutations in the solute carrier family 2, member 1 (SLC2A1) gene and inherited in an autosomal dominant manner. Clinical, laboratory, and genetic studies were performed in three family members. The proband's symp...

journal_title：Journal of neurology

authors： Tacik P,Loens S,Schrader C,Gayde-Stephan S,Biskup S,Dressler D

更新日期：2014-10-01 00:00:00