Richards-Rundle syndrome, cochleovestibular dysfunction and neurofibromatosis in a family.

abstract：:A girl with rapid-onset, bulbospinal muscular atrophy and deafness is described. The patient's mother and brother showed EMG features consistent with subclinical involvement. T is bulbospinal form of spinal muscular atrophy associated with deafness described by Vialetto and van Laere closely resembles the Madras type ...

journal_title：Journal of neurology

authors： Summers BA,Swash M,Schwartz MS,Ingram DA

更新日期：1987-08-01 00:00:00

abstract：:Chronic neuropathy is the most frequent condition affecting the peripheral nervous system. It includes symmetrical polyneuropathies, multifocal mononeuropathies, mononeuropathies and radiculopathies. Mononeuropathies are mainly due to compression or entrapment and are not discussed in this review, which focuses on pol...

journal_title：Journal of neurology

authors： Léger JM

更新日期：1999-03-01 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：:Neurological complications in the acquired immunodeficiency syndrome (AIDS) are an important aspect of this new infectious disease and occur frequently. The existence of neurotropic variants of the human immunodeficiency virus (HIV), the causative agent of AIDS, is probable. Direct infection of the nervous system with...

journal_title：Journal of neurology

authors： Fischer PA,Enzensberger W

更新日期：1987-06-01 00:00:00

abstract：:Relapses are a characteristic clinical feature of multiple sclerosis (MS), but an appreciation of factors that cause them remains elusive. In this study, we have examined seasonal variation of relapse in a large population-based MS cohort and correlated observed patterns with age, sex, disease course, and climatic fac...

journal_title：Journal of neurology

authors： Harding K,Tilling K,MacIver C,Willis M,Joseph F,Ingram G,Hirst C,Wardle M,Pickersgill T,Ben-Shlomo Y,Robertson N

更新日期：2017-06-01 00:00:00

abstract：:The history of our understanding of the pathogenesis and pathophysiology of multiple sclerosis are reviewed in the context of Charcot's contribution. The implications for treatment of the new knowledge gained from studies during life of pathology and pathogenesis (by MRI) and pathophysiology (by evoked potentials) are...

journal_title：Journal of neurology

authors： McDonald WI

更新日期：1993-01-01 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：: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

abstract：:Infectious agents have been proposed as potential causes of Alzheimer's disease (AD). Recently, we documented a high prevalence of Helicobacter pylori (Hp) infection in patients with AD. We aim to access the effect of Hp eradication on the AD cognitive (MMSE: Mini Mental State Examination and CAMCOG: Cambridge Cogniti...

journal_title：Journal of neurology

authors： Kountouras J,Boziki M,Gavalas E,Zavos C,Grigoriadis N,Deretzi G,Tzilves D,Katsinelos P,Tsolaki M,Chatzopoulos D,Venizelos I

更新日期：2009-05-01 00:00:00

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：:A case of primary autonomic failure (AF) with uncomplicated Parkinson's disease is presented with clinical and neurophysiological data. Special emphasis is placed on new methods of examining impairment of unmyelinated sympathetic and afferent C-fibres. Sympathetic vasoconstrictor responses in the skin induced by deep ...

journal_title：Journal of neurology

authors： Baron R,Feldmann R,Lindner V

更新日期：1993-12-01 00:00:00

abstract：:Sexuality in patients with amyotrophic lateral sclerosis (ALS) has received little attention so far. Although sexual function is not directly affected by the disease process, several patients have reported problems within their sexual relationship. We performed a questionnaire survey to ascertain the extent and clinic...

journal_title：Journal of neurology

authors： Wasner M,Bold U,Vollmer TC,Borasio GD

更新日期：2004-04-01 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：:Brains from 54 patients with organic dementia were examined systematically. As in previous investigations a predominance of Alzheimer type changes was observed. Seventeen patients showed Lewy bodies in the nucleus basalis, the substantia nigra and the locus coeruleus as well as other lesions of parkinsonian type. In 5...

journal_title：Journal of neurology

authors： Ulrich J,Probst A,Wüest M

更新日期：1986-04-01 00:00:00

abstract：:As there are scarce data regarding the outcomes of acute ischemic stroke (AIS) patients treated with intravenous thrombolysis (IVT) within 60 min from symptom onset ("golden hour"), we sought to compare outcomes between AIS patients treated within [GH(+)] and outside [GH(-)] the "golden hour" by analyzing propensity s...

journal_title：Journal of neurology

authors： Tsivgoulis G,Katsanos AH,Kadlecová P,Czlonkowska A,Kobayashi A,Brozman M,Švigelj V,Csiba L,Fekete K,Kõrv J,Demarin V,Vilionskis A,Jatuzis D,Krespi Y,Liantinioti C,Giannopoulos S,Mikulik R

更新日期：2017-05-01 00:00:00

abstract：:We report a case of polycythemia vera with chorea in which the brain metabolism and dopamine system were investigated using 2-[(18)F]fluoro-2-deoxy-D-glucose positron emission tomography (FDG PET) and (99m)Tc-labeled tropane dopamine transporter ((99m)Tc-TRODAT-1) single photon emission computed tomography (SPECT). Al...

journal_title：Journal of neurology

authors： Huang HC,Wu YC,Shih LY,Lo WC,Tsai CH,Shyu WC

更新日期：2011-11-01 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：:Isolated floccular infarction is extremely rare, and impairments of the vestibulo-ocular reflex (VOR) have not been explored in humans with isolated floccular lesions. The purpose of this study was to examine and report selective impairment of VOR in response to high acceleration using head impulse in a patient with i...

journal_title：Journal of neurology

authors： Park HK,Kim JS,Strupp M,Zee DS

更新日期：2013-06-01 00:00:00

abstract：:Four patients from three unrelated families, with clinical and electrophysiological findings compatible with the diagnosis of hereditary motor and sensory neuropathy, are presented. The molecular analysis showed that the affected individuals were homozygous for the mutation in the X25 gene, characteristic of Friedreic...

journal_title：Journal of neurology

authors： Panas M,Kalfakis N,Karadima G,Davaki P,Vassilopoulos D

更新日期：2002-11-01 00:00:00

abstract：:A haplotype marker consisting of three biallelic restriction fragment length polymorphism (RFLP) loci from the VH-2 variable gene family was examined in 124 families with sibling pairs concordant for multiple sclerosis, 178 unrelated patients and 159 unaffected controls to investigate the role of the immunoglobulin he...

journal_title：Journal of neurology

authors： Wood NW,Sawcer SJ,Kellar-Wood HF,Holmans P,Clayton D,Robertson N,Compston DA

更新日期：1995-10-01 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：: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：:We report two cases of unilateral spatial neglect associated with an isolated right frontal lobe lesion. Case 1 was a 59-year-old, right-handed man, who developed a left hemiplegia, disorientation, and frontal lobe neglect associated with a haemorrhagic contusion following a head injury. Case 2 was a 55-year-old, righ...

journal_title：Journal of neurology

authors： Maeshima S,Terada T,Nakai K,Nishibayashi H,Ozaki F,Itakura T,Komai N

更新日期：1995-10-01 00:00:00

abstract：OBJECTIVE:In order to define the predictors of prolonged survival available at the time of first examination we performed a historical cohort study of amyotrophis sclerosis (ALS) patients referred to our ALS Clinic over the last 20 years. METHODS:In a group of 1034 patients with the diagnosis of definite or probable A...

journal_title：Journal of neurology

authors： Czaplinski A,Yen AA,Appel SH

更新日期：2006-11-01 00:00:00

abstract：:Collective evidence supports the notion that multiple sclerosis is principally an autoimmune disease. Much of it stems from models of experimental autoimmune encephalomyelitis, generated by inoculation of animals with central nervous system antigens such as MBP, PLP, S100 and MOG or peptides thereof. Different ways of...

journal_title：Journal of neurology

authors： Hartung HP,Kieseier BC,Hemmer B

更新日期：2005-11-01 00:00:00

abstract：:Rituximab, a monoclonal antibody to CD20, is an effective treatment for relapsing remitting multiple sclerosis (MS) reducing relapse rate by at least 50% over time. Although the mechanism for this clinical benefit is unclear, rituximab depletes circulating B cells, which can perform antigen presentation and stimulatio...

journal_title：Journal of neurology

authors： Baber U,Bouley A,Egnor E,Sloane JA

更新日期：2018-10-01 00:00:00

abstract：:Three families are described which include members with "typical" Friedreich's disease (FD) and others who are ataxic but do not satisfy all the diagnostic criteria for that disease. In family A two patients have an early-onset, rapidly progressive FD, while two others have a late-onset, more benign form. In families ...

journal_title：Journal of neurology

authors： Filla A,De Michele G,Cavalcanti F,Santorelli F,Santoro L,Campanella G

更新日期：1991-06-01 00:00:00

abstract：:Temporal lobe epilepsy has been usually associated with progressive brain atrophy due to neuronal cell loss. However, recent animal models demonstrated a dual effect of epileptic seizures with initial enhancement of hippocampal neurogenesis followed by abnormal astrocyte proliferation and neurogenesis depletion in the...

journal_title：Journal of neurology

authors： Roggenhofer E,Santarnecchi E,Muller S,Kherif F,Wiest R,Seeck M,Draganski B

更新日期：2019-12-01 00:00:00

abstract：:A patient is described who developed complex partial seizures with secondary generalization 3 years after a severe viral encephalitis with a CT and EEG identified lesion in the left insular cortex and its surrounding structures. When the seizures first occurred CT and MRI as well as repeated interictal conventional EE...

journal_title：Journal of neurology

authors： Dressler D,Voth E,Feldmann M,Henze T,Felgenhauer K

更新日期：1989-07-01 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