Hereditary spastic paraplegia caused by the novel mutation 1047insC in the SPG7 gene.

abstract：:In Huntington's disease (HD) atrophy of the caudate nucleus and putamen has been described many years before clinical manifestation. Volume changes of the pallidum, thalamus, brainstem, accumbens nucleus, hippocampus, and amygdala are less well investigated, or reported with contradicting results. The aim of our study...

journal_title：Journal of neurology

authors： van den Bogaard SJ,Dumas EM,Acharya TP,Johnson H,Langbehn DR,Scahill RI,Tabrizi SJ,van Buchem MA,van der Grond J,Roos RA,TRACK-HD Investigator Group.

更新日期：2011-03-01 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：BACKGROUND:The significance of neutrophil-to-lymphocyte ratio (NLR) has been explored in different diseases. Few studies addressed its role in patients with multiple sclerosis (MS), with promising results regarding its association with disease activity or disability. OBJECTIVES:We aimed at confirming the role of NLR a...

journal_title：Journal of neurology

authors： Gelibter S,Pisa M,Croese T,Dalla Costa G,Orrico M,Preziosa P,Sangalli F,Martinelli V,Furlan R,Filippi M

更新日期：2021-01-03 00:00:00

abstract：:Focal transcranial magnetic stimulation (TMS) of the motor cortex was used to study excitatory and inhibitory stimulation effects in 25 patients with writer's cramp and 25 healthy volunteers. We investigated excitatory and inhibitory corticospinally mediated motor effects in muscles contralateral to the stimulation si...

journal_title：Journal of neurology

authors： Niehaus L,von Alt-Stutterheim K,Röricht S,Meyer BU

更新日期：2001-01-01 00:00:00

abstract：:The short-term benefits of levodopa/carbidopa intestinal gel (LCIG) in patients with advanced Parkinson's disease (PD) are well documented, but the long-term benefits are still uncertain. The aim of this study was to investigate the motor and cognitive outcome of LCIG treatment in advanced PD after a follow-up period ...

journal_title：Journal of neurology

authors： Cáceres-Redondo MT,Carrillo F,Lama MJ,Huertas-Fernández I,Vargas-González L,Carballo M,Mir P

更新日期：2014-03-01 00:00:00

abstract：:Frequent serial EEG investigations of three patients with neuropathologically confirmed Creutzfeldt-Jakob disease lasting 13, 24 and 68 weeks revealed typical periodic activity of short duration with stereotyped bilateral sharp waves at the 7th, 8th, and 12th week, respectively, after the onset of symptoms. During the...

journal_title：Journal of neurology

authors： Schlenska GK,Walter GF

更新日期：1989-12-01 00:00:00

abstract：OBJECTIVES:To evaluate daily life management and functional outcome of Idarucizumab administration in case of emergency situations in patients with Dabigatran treatment. DESIGN:Multicenter observational registry study. SETTING:All hospitals with full neurological departments (n = 6) in Munich, Germany INCLUDED PATIEN...

journal_title：Journal of neurology

authors： Küpper C,Feil K,Klein M,Feuerecker R,Lücking M,Thanbichler F,Dietrich D,Zerkaulen I,Jandl M,Marziniak M,Poppert H,Wunderlich S,Topka H,Dieterich M,Kellert L

更新日期：2019-11-01 00:00:00

abstract：BACKGROUND AND AIMS:The association between multiple sclerosis (MS) and depression has been well established but prevalence estimates have varied widely. The aims of this study were to assess the point prevalence of previously unrecognised symptoms of depression in a community-based population with MS and examine their...

journal_title：Journal of neurology

authors： McGuigan C,Hutchinson M

更新日期：2006-02-01 00:00:00

abstract：:Patients in a minimally conscious state (MCS) show restricted signs of awareness but are unable to communicate. We assessed cerebral glucose metabolism in MCS patients and tested the hypothesis that this entity can be subcategorized into MCS- (i.e., patients only showing nonreflex behavior such as visual pursuit, loca...

journal_title：Journal of neurology

authors： Bruno MA,Majerus S,Boly M,Vanhaudenhuyse A,Schnakers C,Gosseries O,Boveroux P,Kirsch M,Demertzi A,Bernard C,Hustinx R,Moonen G,Laureys S

更新日期：2012-06-01 00:00:00

abstract：:Studies of the relationship between Alzheimer's disease (AD) and polymorphism in the promoter region of Interleukin 6 (IL-6) -174 G/C have reported inconsistent results. To assess the association between IL-6 -174 G/C promoter polymorphism and AD risk, a meta-analysis containing 3,101 AD cases and 3,860 controls from ...

journal_title：Journal of neurology

authors： Dai L,Liu D,Guo H,Wang Y,Bai Y

更新日期：2012-03-01 00:00:00

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：:Presently, there are more than 50 possible indications for the application of botulinum toxin. In some indications the use of botulinum toxin has already been approved; others are about to be approved. For most of these indications a sufficient number of studies have been published. For rare indications, an insufficie...

journal_title：Journal of neurology

authors： Jost WH,Kohl A

更新日期：2001-04-01 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：:Using a novel trial design, we prospectively examined the effect of intravenous immunoglobulin in seven patients with chronic inflammatory demyelinating polyradiculoneuropathy (CIDP) in a double-blind, placebo-controlled cross-over study. We suggest that the commonly used manual muscle testing and Rankin scale are not...

journal_title：Journal of neurology

authors： Thompson N,Choudhary P,Hughes RA,Quinlivan RM

更新日期：1996-03-01 00:00:00

abstract：BACKGROUND:Trans-active response DNA-binding protein of 43 kDa (TDP-43) can be detected in up to 63% of autopsy-confirmed Lewy body disease (LBD) cases. It is unclear whether TDP-43 is associated with a decreased likelihood of a clinical diagnosis of probable dementia with Lewy bodies (pDLB) during life. METHODS:In an...

journal_title：Journal of neurology

authors： Buciuc M,Whitwell JL,Boeve BF,Ferman TJ,Graff-Radford J,Savica R,Kantarci K,Fields JA,Knopman DS,Petersen RC,Parisi JE,Murray ME,Dickson DW,Josephs KA

更新日期：2020-05-01 00:00:00

abstract：OBJECTIVES:Lumbar spondylosis (LS) is a common spinal degenerative disorder which causes various types of lower urinary tract dysfunction (LUTD). However, it is not certain whether LS may cause urinary retention in elderly women. METHODS:In a period covering the past 3 years, we retrospectively reviewed: a) urodynamic...

journal_title：Journal of neurology

authors： Sakakibara R,Yamamoto T,Uchiyama T,Liu Z,Ito T,Yamazaki M,Awa Y,Yamanishi T,Hattori T

更新日期：2005-08-01 00:00:00

abstract：:Fifteen patients with Sneddon's syndrome presenting since 1979 were re-examined. After a neurological examination, an orienting test of mental ability as well as an electroencephalogram were performed in all patients. In 10 of the 15 patients computed tomography of the brain was performed, too. Preceding reports and t...

journal_title：Journal of neurology

authors： Weissenborn K,Lubach D,Schwabe C,Becker H

更新日期：1989-01-01 00:00:00

abstract：:Tibial muscular dystrophy (TMD) or Udd myopathy is an autosomal dominant distal myopathy with late onset, at first described in the Finnish population. We report here the first Italian cases of TTN mutated titinopathy. The proband, a 60 year-old female, had the first muscular signs at the age of 59 years, with difficu...

journal_title：Journal of neurology

authors： Pollazzon M,Suominen T,Penttilä S,Malandrini A,Carluccio MA,Mondelli M,Marozza A,Federico A,Renieri A,Hackman P,Dotti MT,Udd B

更新日期：2010-04-01 00:00:00

abstract：:Stroke in young adults is not a rare entity, and often provides difficult management decisions for neurologists. The knowledge gained from stroke in older adults does not transfer easily to this younger group given the different causes of stroke observed. Cardiac causes of stroke are common in this group, but often co...

journal_title：Journal of neurology

authors： Cotter PE,Belham M,Martin PJ

更新日期：2010-11-01 00:00:00

abstract：:The seasonal occurrence of relapses was analysed retrospectively in a group of 53 patients with treated dermatomyositis (DM) or polymyositis (PM). In DM, the incidence of both myositic and cutaneous relapses was highest in summer whereas in the PM group relapses was more evenly distributed throughout the seasons but l...

journal_title：Journal of neurology

authors： Phillips BA,Zilko PJ,Garlepp MJ,Mastaglia FL

更新日期：2002-04-01 00:00:00

abstract：:Neurological complications following rubella are only rarely encountered. However, in many cases severe neurological impairment may occur, leading to permanent disability. In a recent epidemic of rubella in Israel during the years 1978-1979, 20 patients with severe neurological complications have been seen. We report ...

journal_title：Journal of neurology

authors： Bechar M,Davidovich S,Goldhammer G,Machtey I,Gadoth N

更新日期：1982-01-01 00:00:00

abstract：:We recently reported findings that loss of cortical acetylcholinesterase (AChE) activity is greater in parkinsonian dementia than in Alzheimer's disease (AD). In this study we determined cognitive correlates of in vivo cortical AChE activity in patients with parkinsonian dementia (PDem, n = 11), Parkinson's disease wi...

journal_title：Journal of neurology

authors： Bohnen NI,Kaufer DI,Hendrickson R,Ivanco LS,Lopresti BJ,Constantine GM,Mathis ChA,Davis JG,Moore RY,Dekosky ST

更新日期：2006-02-01 00:00:00

abstract：:An 18-year-old man suffered from acute Sydenham chorea appearing coincidently with beta-haemolytic streptococcal throat infection. Imaging techniques documented lesions of basal ganglia and substantia nigra. In the early course of the disease vascular lesions may be important pathogenetic mechanisms of this acquired m...

journal_title：Journal of neurology

authors： Heye N,Jergas M,Hötzinger H,Farahati J,Pöhlau D,Przuntek H

更新日期：1993-02-01 00:00:00

abstract：:In the epidemiological area of Southern Lower Saxony 92 patients with clinically definite or probable diagnosis of multiple sclerosis (MS) were interviewed and examined. This group contained a remarkably high percentage of benign cases (52%) in comparison with a sample of hospitalized patients. Neurological examinatio...

journal_title：Journal of neurology

authors： Poser S,Bauer HJ,Ritter G,Friedrich H,Beland H,Denecke P

更新日期：1981-01-01 00:00:00

abstract：:We describe three patients with unilateral asterixis. One diabetic patient with a moderately-sized haematoma in the left putamen initially developed bilateral and symmetrical asterixis, which became confined to the right side as his diabetes mellitus was controlled. Two patients showed unilateral asterixis due to haem...

journal_title：Journal of neurology

authors： Mizutani T,Shiozawa R,Nozawa T,Nozawa Y

更新日期：1990-12-01 00:00:00

abstract：:Out of 72 patients treated for Borrelia burgdorferi meningopolyradiculoneuritis facial palsies occurred in 22 (12 unilateral, 10 bilateral). Eleven of the 32 pareses were initially complete. By the follow-up examination patients had recovered well with slight sequelae in 22% without cosmetically disfiguring pareses or...

journal_title：Journal of neurology

authors： Angerer M,Pfadenhauer K,Stöhr M

更新日期：1993-05-01 00:00:00

abstract：:Ten female patients suffering from catamenial epilepsy were treated with a synthetic analogue of the gonadotrophin releasing hormone (GnRH) in addition to antiepileptic drugs. Three of the patients became seizure free, in four patients seizure frequency decreased and in one patient seizures were of shorter duration. I...

journal_title：Journal of neurology

authors： Bauer J,Wildt L,Flügel D,Stefan H

更新日期：1992-05-01 00:00:00

abstract：:Central nervous system localizations of sarcoidosis may be refractory to conventional treatment such as steroids and immunosuppressive drugs. Infliximab, a TNF-α antagonist chimeric antibody, has been shown to be effective for treatment of these localizations. The aim of this study was to evaluate the efficacy and saf...

journal_title：Journal of neurology

authors： Cohen Aubart F,Bouvry D,Galanaud D,Dehais C,Mathey G,Psimaras D,Haroche J,Pottier C,Hie M,Mathian A,Devilliers H,Nunes H,Valeyre D,Amoura Z

更新日期：2017-05-01 00:00:00

abstract：:This meta-analysis aims to compare percutaneous transluminal angioplasty (PTA) to medical treatment (MT) for symptomatic vertebral artery stenosis (SVAS) treatment. We searched PubMed, Springer, Google Scholar, Clinical Trials, Cochrane Central, Chinese National Knowledge Infrastructure, and China Biological Medicine ...

journal_title：Journal of neurology

authors： Feng H,Xie Y,Mei B,Liu Y,Li B,Yin C,Wang T,Liu Y

更新日期：2017-05-01 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