Autosomal recessive paraparesis with amyotrophy of the hands and feet.

abstract：OBJECTIVES:To describe clinical, electrophysiological and genetic data of five unrelated Sicilian pedigrees harbouring a heterozygous Ser78Leu mutation in the myelin protein zero (MPZ) extracellular domain. MATERIALS AND METHODS:Clinical, electrophysiological and genetic findings of 16 patients were reported. Polymorp...

journal_title：Acta neurologica Scandinavica

authors： Mazzeo A,Muglia M,Rodolico C,Toscano A,Patitucci A,Quattrone A,Messina C,Vita G

更新日期：2008-11-01 00:00:00

abstract：OBJECTIVE:White matter (WM) integrity of Spinocerebellar ataxia 2 (SCA2) is poorly understood, more so in the early stages of SCA2. In this study, we evaluated the microstructural integrity of the WM tracts with an emphasis on the nature of in vivo pathological involvement in early SCA2. MATERIALS AND METHODS:We evalu...

journal_title：Acta neurologica Scandinavica

authors： Stezin A,Bhardwaj S,Khokhar S,Hegde S,Jain S,Bharath RD,Saini J,Pal PK

更新日期：2020-10-08 00:00:00

abstract：BACKGROUND:Early administration of paracetamol may improve outcome of patients with acute stroke and a baseline body temperature of 37°C or above by lowering body temperature and preventing fever. Besides its antipyretic effects, paracetamol may affect blood pressure through cyclooxygenase-2 inhibition. We therefore ai...

journal_title：Acta neurologica Scandinavica

authors： den Hertog HM,van der Worp HB,van Gemert HM,van Gijn J,Koudstaal PJ,Dippel DW

更新日期：2012-04-01 00:00:00

abstract：INTRODUCTION:Cerebral small vessel disease (SVD) contributes to dementia and disability in the elderly, and may negatively affect stroke outcomes. We aimed to evaluate to what extent single features and global burden of SVD detected with magnetic resonance (MR) are associated with worse outcomes in patients with ischae...

journal_title：Acta neurologica Scandinavica

authors： Arba F,Inzitari D,Ali M,Warach SJ,Luby M,Lees KR,STIR\/VISTA Imaging Collaboration.

更新日期：2017-07-01 00:00:00

abstract：OBJECTIVES:The prognosis after Lyme neuroborreliosis (LNB) is debated. The aim of this study was to assess health-related Quality of Life (QoL) and neurological symptoms 30 months after treatment in European patients with LNB. MATERIALS AND METHODS:In a prospective case-control designed study, we investigated 50 well-...

journal_title：Acta neurologica Scandinavica

authors： Eikeland R,Mygland A,Herlofson K,Ljøstad U

更新日期：2011-11-01 00:00:00

abstract：:A young woman with firm evidence of early multiple sclerosis (MS), who had never had measles, developed a clinically and serologically evident measles infection. Follow-up 1 year later confirmed the MS diagnosis. Thus, if measles can have a causal role in MS, it is probably not the only agent with this ability. ...

journal_title：Acta neurologica Scandinavica

authors： Ryberg B

更新日期：1979-04-01 00:00:00

abstract：:Single, small (less than 1 cm) enhancing lesions are frequent findings on CT scans of Indian patients with seizures. These lesions have also been reported in patients from other parts of the world. They often resolve spontaneously and their etiology has been disputed for over a decade. Initially diagnosed in Indian pa...

journal_title：Acta neurologica Scandinavica

authors： Rajshekhar V

更新日期：1991-12-01 00:00:00

abstract：:A total of 20 subjects with asymptomatic carotid artery stenosis (ACAS) and a group of healthy controls were compared as to their cognitive performance. Subjects with ACAS showed substantial deficits on tasks of mental speed, learning, visuospatial abilities, verbal processing and deductive reasoning. The cognitive pr...

journal_title：Acta neurologica Scandinavica

authors： Benke T,Neussl D,Aichner F

更新日期：1991-06-01 00:00:00

abstract：OBJECTIVES:The aim of this study was to assess the role of transesophageal echocardiography in detecting the source of cerebral embolism in ischemic stroke patients and to evaluate the difference in occurrence of heart abnormalities in anterior and posterior circulation infarcts. MATERIAL AND METHODS:The study group i...

journal_title：Acta neurologica Scandinavica

authors： Mendel T,Pasierski T,Szwed H,Barańska-Gieruszczak M,Członkowska A

更新日期：1998-01-01 00:00:00

abstract：OBJECTIVES:Health-related quality of life (HRQL) has become an important outcome criterion of medical interventions, but was hardly studied in patients with facial spasms. MATERIALS AND METHODS:Patients with blepharospasm or hemifacial spasm treated with botulinum toxin were included. A healthy control group sociodemo...

journal_title：Acta neurologica Scandinavica

authors： Reimer J,Gilg K,Karow A,Esser J,Franke GH

更新日期：2005-01-01 00:00:00

abstract：INTRODUCTION:Charcot-Marie-Tooth disease (CMT) is a heterogeneous inherited neuropathy. The number of known CMT genes is rapidly increasing mainly due to next-generation sequencing technology, at present more than 70 CMT-associated genes are known. We investigated whether variants in the DCTN2 could cause CMT. MATERIA...

journal_title：Acta neurologica Scandinavica

authors： Braathen GJ,Høyer H,Busk ØL,Tveten K,Skjelbred CF,Russell MB

更新日期：2016-07-01 00:00:00

abstract：:The ability to transcode integers from ideographic to alphabetic script was assessed in patients with dementia of Alzheimer type. Eleven of 13 consecutive patients made characteristic errors of intrusion. We propose that this may be a simple bedside test for dementia. ...

journal_title：Acta neurologica Scandinavica

authors： Tegnér R,Nybäck H

更新日期：1990-02-01 00:00:00

abstract：:By a rapid PCR-based method to assess the 8344 mtDNA mutation associated with MERRF disease, we have studied DNA from blood samples of 10 individuals belonging to a family spanning four generations in which one patient showed the complete MERRF phenotype, three other members were less severely affected, while the rema...

journal_title：Acta neurologica Scandinavica

authors： Piccolo G,Focher F,Verri A,Spadari S,Banfi P,Gerosa E,Mazzarello P

更新日期：1993-12-01 00:00:00

abstract：:Twenty-seven patients with CT-scan-diagnosed arachnoid cysts in the middle cranial fossa were studied. Five (18%) presented with progressive symptoms related to raised intracranial pressure which had developed after minor trauma and secondary bleeding, 12 (44%) presented with non-progressive symptoms, and 10 (37%) exh...

journal_title：Acta neurologica Scandinavica

authors： Passero S,Filosomi G,Cioni R,Venturi C,Volpini B

更新日期：1990-08-01 00:00:00

abstract：OBJECTIVES:The aetiological role of common genetic mutations was analysed in a subgroup of stroke patients. MATERIAL AND METHODS:A total of 406 patients were examined because of ischaemic stroke. After a detailed clinical scrutiny, 5 were found who did not exhibit any of the classical clinical risk factors. In this cl...

journal_title：Acta neurologica Scandinavica

authors： Szolnoki Z,Somogyvári F,Szabó M,Fodor L

更新日期：2000-08-01 00:00:00

abstract：OBJECTIVES:The common prion protein gene (PRNP) codon 129 polymorphism modifies the susceptibility to and the phenotype of prion diseases. However, no truly representative normal population-based data, or data stratified according to age or gender are available on the distribution of this polymorphism. MATERIAL AND ME...

journal_title：Acta neurologica Scandinavica

authors： Nurmi MH,Bishop M,Strain L,Brett F,McGuigan C,Hutchison M,Farrell M,Tilvis R,Erkkilä S,Simell O,Knight R,Haltia M

更新日期：2003-11-01 00:00:00

abstract：OBJECTIVES:The aim of this study is to estimate the risk of hip fracture after first-ever stroke, using a nationwide population-base data set and a retrospective cohort design. MATERIALS AND METHODS:The cohort study involved 18,413 patients surviving a first-ever stroke during the 12-year period from 1997 to 2008. Ano...

journal_title：Acta neurologica Scandinavica

authors： Lin HL,Lin HC,Tseng YF,Liao HH,Worly JA,Pan CY,Hsu CY

更新日期：2015-03-01 00:00:00

abstract：:Twenty solvent-exposed workers, most of them painters, had been diagnosed as cases of toxic encephalopathy in 1978/79. Two years later they were re-examined with an extensive battery of neuropsychological tests. Their performance was unchanged on retesting. We have now compared their test results with those of non-exp...

journal_title：Acta neurologica Scandinavica

authors： Gade A,Mortensen EL,Bruhn P

更新日期：1988-04-01 00:00:00

abstract：:A CSF Poly(C)-avid ribonuclease (RNase) activity was determined in serum and CSF of 11 controls and 75 neurological patients (34 multiple sclerosis (MS), 18 infectious processes and 23 other neurological diseases (OND]. In controls, the blood-CSF ratio of RNase activity is low. This fact and the absence of correlation...

journal_title：Acta neurologica Scandinavica

authors： Allinquant B,Musenger C,Schuller E

更新日期：1984-07-01 00:00:00

abstract：BACKGROUND:No systematic study has been made to separate age-related clinical deterioration and dysfunctional brain areas from those associated with Parkinson's disease (PD). METHODS:This study included 73 de novo patients with PD and 43 age-matched controls. All subjects underwent [(18)F]-fluorodeoxy glucose (FDG) po...

journal_title：Acta neurologica Scandinavica

authors： Lee MS,Lyoo CH,Ryu YH,Lim HS,Nam CM,Kim HS,Rinne JO

更新日期：2011-09-01 00:00:00

abstract：:The present communication is devoted to investigating the possibility that in myotonic dystrophy (MyD) a decreased ATP utilization by the membrane may produce modifications in glycoprotein structure and/or in the supramolecular arrangement of some membrane proteins. The study was carried out a) by determining the memb...

journal_title：Acta neurologica Scandinavica

authors： Sandrini G,Bottiroli G,Nappi G,Balduini C,Brovelli A

更新日期：1982-06-01 00:00:00

abstract：OBJECTIVE:Cognitive impairment occurs in 40%-65% of patients with multiple sclerosis (MS). Several techniques for cognitive rehabilitation (CR) in these patients have been evaluated; however, the results have been controversial. In this study, we investigated the efficacy of group compensatory CR in patients with MS-re...

journal_title：Acta neurologica Scandinavica

authors： Mani A,Chohedri E,Ravanfar P,Mowla A,Nikseresht A

更新日期：2018-06-01 00:00:00

abstract：:Several forms of treatment of lower urinary tract functional disorders have been attempted in children with myelomeningocele (MMC). Intravesical electrical stimulation was attempted in 10 patients. Urinary control was achieved in one and in the remaining 9 either the bladder was resistant to stimulation or the childre...

journal_title：Acta neurologica Scandinavica

authors： Petersen T

更新日期：1987-01-01 00:00:00

abstract：:A microtechnique was established for the study of the limited numbers of cells available in CSF. The method allowed for the determination of the number of immunoglobulin-secreting cells (IgSC) as well as the quantitation of immunoglobulin or specific antibody secreted into the culture medium. Dose-response curves and ...

journal_title：Acta neurologica Scandinavica

authors： Sandberg M,Levinson AI,Zweiman B,Lisak RP

更新日期：1986-12-01 00:00:00

abstract：:Serum lipids and the cholesterol concentration in the high density lipoprotein (HDL) fraction were measured in epileptic patients taking either carbamazepine or phenytoin as single drug treatment. There was a significant increase in HDL-cholesterol levels in patients taking both phenytoin and carbamazepine. Serum tota...

journal_title：Acta neurologica Scandinavica

authors： O'Neill B,Callaghan N,Stapleton M,Molloy W

更新日期：1982-02-01 00:00:00

abstract：:Further studies pm yjr rofr,op;phu pg ,i;yo;r dv;rtpdod (MS) IN Finland were carried out in three different types of geographical unit: in counties, combined clerical districts, and single clerical district. For longitudinal studies, the prevalence of MS by present domicile was compared to that by place of birth, and ...

journal_title：Acta neurologica Scandinavica

authors： Wikström J,Palo J

更新日期：1975-02-01 00:00:00

abstract：OBJECTIVES:We aimed to investigate associations between neuropsychological indices and normalized volumes of supratentorial structures, and the area of the corpus callosum. MATERIALS AND METHODS:We studied 40 patients with clinically definite MS, using 3D-acquired MRI (MPRAGE, Magnetization Prepared Rapid Acquisition ...

journal_title：Acta neurologica Scandinavica

authors： Edwards SG,Liu C,Blumhardt LD

更新日期：2001-10-01 00:00:00

abstract：BACKGROUND:Excessive daytime sleepiness (EDS) is a symptom frequently presented in sleep clinics. Only a paucity of data has addressed clinical courses of sleep disorders with EDS. Therefore, we sought to compare clinical outcomes of patients presenting EDS. METHODS:A retrospective observational study was performed in...

journal_title：Acta neurologica Scandinavica

authors： Kim T,Lee JH,Lee CS,Yoon IY

更新日期：2016-07-01 00:00:00

abstract：:Twenty-four male patients, all homosexual except one, with asymptomatic HIV-infection were studied. The patients had no signs of opportunistic CNS-infections but 6 had been treated for syphilis. The patients were tested with auditory brainstem response (ABR) audiometry and with oculomotor tests (saccades and smooth pu...

journal_title：Acta neurologica Scandinavica

authors： Rosenhall U,Håkansson C,Löwhagen GB,Hanner P,Jonsson-Ehk B

更新日期：1989-02-01 00:00:00

abstract：:Botulinum toxin serotype A (BoNT/A) was originally used in neurology for the treatment of dystonia and blepharospasms, but is now clinically used worldwide for the treatment of chronic migraine. Still, the possible mode of action of BoNT/A in migraine is not fully known. However, the mode of action of BoNT/A has been ...

journal_title：Acta neurologica Scandinavica

authors： Do TP,Hvedstrup J,Schytz HW

更新日期：2018-05-01 00:00:00