Early detection of skin and muscular involvement in Lafora disease.

abstract：:Amyotrophic lateral sclerosis (ALS), which is the most serious form of degenerative motor neuron disease in adults, is characterized by upper and lower motor neuron degeneration, skeletal muscle atrophy, paralysis, and death. Some patients with respiratory-dependent ALS die of sudden cardiac arrest or anoxic encephalo...

journal_title：Journal of neurology

authors： Tanaka Y,Yamada M,Koumura A,Sakurai T,Hayashi Y,Kimura A,Hozumi I,Inuzuka T

更新日期：2013-09-01 00:00:00

abstract：:Knowledge of restless legs syndrome (RLS) has greatly increased in recent years due to the many advances that have been made in diagnosis, management and genetics. Tools have been developed that facilitate the diagnosis and treatment of RLS, in particular the essential diagnostic criteria for RLS have been refined, se...

journal_title：Journal of neurology

authors： Trenkwalder C,Högl B,Winkelmann J

更新日期：2009-04-01 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：OBJECTIVES:To estimate the socio-economic impact of multiple sclerosis (MS) in Italy. METHODS:Outpatients with MS were enrolled at 44 centres across Italy. Socio-demographic, clinical and resource utilization data were collected using a validated questionnaire. Each patient completed a weekly diary of expenses due to ...

journal_title：Journal of neurology

authors： Amato MP,Battaglia MA,Caputo D,Fattore G,Gerzeli S,Pitaro M,Reggio A,Trojano M,Mu. S. I. C. Study Group.

更新日期：2002-02-01 00:00:00

abstract：:Levamisole seems to regulate cell-mediated immunity by restoring T-cell function. Since a deficiency of T lymphocytes has been described by various authors in multiple sclerosis patients. Of the 85 patients involved in the trial, evaluation of functional and neurological scores was possible in 54 (32 with placebo and ...

journal_title：Journal of neurology

authors： Gonsette RE,Demonty L,Delmotte P,Decree J,de Cock W,Verhaeghen H,Symoens J

更新日期：1982-01-01 00:00:00

abstract：:We describe the case of a 40-year-old male patient who had presented clinically as primary lateral sclerosis for the past 10 years and neuropathologically as diffuse Lewy body disease (DLBD). Neuropathology demonstrated DLBD as an almost ubiquitous disorder of the neuronal cytoskeleton. ...

journal_title：Journal of neurology

authors： Hainfellner JA,Pilz P,Lassmann H,Ladurner G,Budka H

更新日期：1995-01-01 00:00:00

abstract：:Thinning of the retinal nerve fiber layer (RNFL) of clinically unaffected eyes is seen in patients with multiple sclerosis (MS). It is uncertain when this thinning occurs, and whether ongoing RNFL loss can be measured over time with optical coherence tomography (OCT). Using time-domain OCT, we studied 34 patients with...

journal_title：Journal of neurology

authors： Henderson AP,Trip SA,Schlottmann PG,Altmann DR,Garway-Heath DF,Plant GT,Miller DH

更新日期：2010-07-01 00:00:00

abstract：:The objective of this study is to determine the current distribution of clinical phenotypes and to estimate future trends of ALS incidence in Western societies. We report on a clinical-epidemiological registry with a capture-recapture rate of >80% and population-based case-control study in ALS patients in South Wester...

journal_title：Journal of neurology

authors： Rosenbohm A,Peter RS,Erhardt S,Lulé D,Rothenbacher D,Ludolph AC,Nagel G,ALS Registry Study Group.

更新日期：2017-04-01 00:00:00

abstract：:This article describes the clinical features of anterior semicircular canal benign paroxysmal positional vertigo (AC-BPPV) and a new therapeutic maneuver for its management. Our study was a retrospective review of cases from an ambulatory tertiary referral center. Thirteen patients afflicted with positional paroxysmal...

journal_title：Journal of neurology

authors： Yacovino DA,Hain TC,Gualtieri F

更新日期：2009-11-01 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: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：:Leukocyte recruitment and inflammatory response play an important patho-physiologic role after cerebral ischemia. This study aimed to evaluate whether leukocyte adhesion molecules can predict clinical outcome in patients after ischemic stroke. We prospectively examined serial changes in p-selectin glycoprotein ligand-...

journal_title：Journal of neurology

authors： Tsai NW,Chang WN,Shaw CF,Jan CR,Huang CR,Chen SD,Chuang YC,Lee LH,Lu CH

更新日期：2009-08-01 00:00:00

abstract：BACKGROUND AND PURPOSE:Mechanical thrombectomy (MT) improves early clinical outcome in patients with acute ischemic stroke but insights on determinants of long-term outcome after MT treatment are scarce. METHODS:Data from stroke patients with anterior circulation large vessel occlusion of a prospective MT registry (01...

journal_title：Journal of neurology

authors： Fuhrer H,Forner L,Pruellage P,Weber S,Beume LA,Schacht H,Egger K,Bardutzky J,Weiller C,Urbach H,Niesen WD,Meckel S

更新日期：2020-04-01 00:00:00

abstract：:Mutations in the SPG3A gene cause a form of pure, early-onset autosomal dominant hereditary spastic paraplegia linked to chromosome 14q. The encoded protein, atlastin, is a putative member of the dynamin superfamily of large GTPases involved in cellular trafficking patterns. We report a new atlastin mutation causing s...

journal_title：Journal of neurology

authors： Scarano V,Mancini P,Criscuolo C,De Michele G,Rinaldi C,Tucci T,Tessa A,Santorelli FM,Perretti A,Santoro L,Filla A

更新日期：2005-08-01 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：INTRODUCTION:Ataxic polyneuropathy, which occurs in endemic form in an area in southwest Nigeria, is attributed to exposure to cyanide from cassava foods. Exposure to cyanide from cassava is, however, not exclusive to this endemic area. In this study, the occurrence of ataxic polyneuropathy was compared in two communit...

journal_title：Journal of neurology

authors： Oluwole OS,Onabolu AO,Cotgreave IA,Rosling H,Persson A,Link H

更新日期：2002-08-01 00:00:00

abstract：:Cardiac conduction and/or rhythm abnormalities (CCRA) are the most frequent and life-threatening complications in DM1. In order to determine prevalence, incidence, characteristics, age of onset and predictors of CCRA, CCRA progression and sudden cardiac death (SCD) in DM1, we collected ECG/24hECG-Holter data from a ye...

journal_title：Journal of neurology

authors： Bucci E,Testa M,Licchelli L,Frattari A,El Halabieh NA,Gabriele E,Pignatelli G,De Santis T,Fionda L,Vanoli F,Morino S,Garibaldi M,Di Pasquale A,Vanacore N,Botta A,Antonini G

更新日期：2018-04-01 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：:Despite ongoing improvements in the acute treatment of cerebrovascular diseases and organization of stroke services, many stroke survivors are in need of neurorehabilitation, as more than two-thirds show persisting neurologic deficits. While early elements of neurorehabilitation are already taking place on the stroke ...

journal_title：Journal of neurology

authors： Albert SJ,Kesselring J

更新日期：2012-05-01 00:00:00

abstract：:Myasthenia gravis patients usually present with fluctuating, asymmetrical stress-dependent weakness in the absence of other neurological disturbances. In weak patients psychopathological disturbances are frequently reported and misdiagnosed as a psychiatric disorder. The question to what extent psychiatric symptoms ar...

journal_title：Journal of neurology

authors： Köhler W

更新日期：2007-05-01 00:00:00

abstract：:Cluster headache (CH) is characterized by attacks of severe, strictly unilateral pain that is orbital, supraorbital, temporal, or any combination of these, lasts 15-180 min, and occurs from once every other day to eight times a day. The pain is associated with ipsilateral conjunctival injection, lacrimation, nasal con...

journal_title：Journal of neurology

authors： Ljubisavljevic S,Zidverc Trajkovic J

更新日期：2019-05-01 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：: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：:Five patients are described who developed unilateral narrowing of the palpebral fissure that was aggravated by smiling. They had ischaemic lesions involving mainly the contralateral lenticulocapsular area. This rare but distinct symptom may be an action induced focal eyelid dystonia, and could be described as'smile-wi...

journal_title：Journal of neurology

authors： Kim JS

更新日期：2001-05-01 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：: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：: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：:Posterior leukoencephalopathy typically denotes neurotoxicity from immunosuppressive agents, malignant hypertension or eclampsia. It has not been documented in central nervous system angiitis. We present three cases associated with isolated cerebral angiitis after review of all cases of isolated CNS angiitis from 1998...

journal_title：Journal of neurology

authors： Wijdicks EF,Manno EM,Fulgham JR,Giannini C

更新日期：2003-04-01 00:00:00

abstract：:Movement-associated cortical potentials (MP) associated with thumb-opposition or fist-clenching were studied in 20 patients with unilateral cerebral lesions and in 8 healthy subjects. MP was abnormal in 16 patients. The most frequent abnormality was an attenuation of the N component or readiness potential, recorded on...

journal_title：Journal of neurology

authors： Shibasaki H

更新日期：1975-07-02 00:00:00

abstract：:Parvalbumin (a calcium-binding protein)-immunoreactive (PV-Ir) neurons in the cerebral cortex were examined in 20 postmortem brains obtained from elderly controls and patients with Pick's disease (PD). The type of PV-Ir neurons and their distribution in control and PD brains were similar. The number of PV-Ir neurons i...

journal_title：Journal of neurology

authors： Arai H,Noguchi I,Makino Y,Kosaka K,Heizmann CW,Iizuka R

更新日期：1991-07-01 00:00:00