Abstract:
:Mitochondrial DNA (mtDNA) deletions have been noted in small quantities in a handful of atypical cases of myotonic dystrophy and there are clinical and pathological parallels between this autosomal dominant disease and certain mitochondrial myopathies where such deletions are well recognised. We studied 20 individuals from typical pedigrees of myotonic dystrophy (of whom 19 were clinically affected) with Southern blot analysis, and 2 of the affected individuals with PCR analysis of mtDNA, but were unable to demonstrate the previously noted deletions in any quantity by either method. We conclude that especially in view of known naturally occurring large scale and minor length variants in mtDNA, these previous findings are of dubious relevance to the disease.
journal_name
Acta Neurol Scandjournal_title
Acta neurologica Scandinavicaauthors
Thyagarajan D,Byrne E,Noer S,Lertrit P,Utthanophol P,Kapsa R,Marzuki Sdoi
10.1111/j.1600-0404.1993.tb04071.xsubject
Has Abstractpub_date
1993-01-01 00:00:00pages
32-6issue
1eissn
0001-6314issn
1600-0404journal_volume
87pub_type
杂志文章abstract::A family with coincidence of a restless leg syndrome (RLS) in the mother and a Gilles de la Tourette syndrome (GTS) in the son who also shows increased vulnerability to neuroleptic induced akathisia (NIA) is presented. Since these diseases show parallels from a genetic, pathogenetic and clinical point of view, the fam...
journal_title:Acta neurologica Scandinavica
pub_type: 杂志文章
doi:10.1111/j.1600-0404.1994.tb02661.x
更新日期:1994-06-01 00:00:00
abstract::Serum and CSF from 53 vascular dementia (VD) patients and 50 controls were analysed to investigate the possibility of an intrathecal synthesis of IgG, defined as an elevated IgG index (greater than or equal to 7) and/or presence of oligoclonal IgG in cerebrospinal fluid (CSF), but not in serum. Five (9%) patients and ...
journal_title:Acta neurologica Scandinavica
pub_type: 杂志文章
doi:10.1111/j.1600-0404.1990.tb00955.x
更新日期:1990-02-01 00:00:00
abstract::Supernatants of peripheral blood lymphocytes (PBL), containing lymphokines, isolated from MS patients and healthy subjects were tested for demyelinating activity in organotypic culture of the rat cerebellum. PBL were isolated on Ficoll-paque gradient and cultures in RPMI 1640 medium for 72 h with or without phytohemag...
journal_title:Acta neurologica Scandinavica
pub_type: 杂志文章
doi:10.1111/j.1600-0404.1986.tb07853.x
更新日期:1986-09-01 00:00:00
abstract:BACKGROUND:Both pregnancy and high vitamin D concentration seem to generate a protective environment against multiple sclerosis (MS) relapses. Longitudinal case-control analysis of vitamin D concentrations during pregnancy and lactation of MS mothers is lacking. AIMS OF THE STUDY:To examine serum 25-hydroxyvitamin-D3 ...
journal_title:Acta neurologica Scandinavica
pub_type: 杂志文章
doi:10.1111/ane.12306
更新日期:2015-01-01 00:00:00
abstract:OBJECTIVES:Hospital admission in otherwise healthy patients following a first unprovoked seizure is controversial. We aimed to evaluate the influence of admission in a neurology department on the identification of risk factors for seizure recurrence in patients with a first unprovoked seizure. MATERIALS AND METHODS:We...
journal_title:Acta neurologica Scandinavica
pub_type: 杂志文章
doi:10.1111/ane.12079
更新日期:2013-07-01 00:00:00
abstract:OBJECTIVES:To examine through a meta-analysis whether a treatment strategy of surgery plus the routine medical management saves lives and reduces disability in survivors of primary supratentorial intracerebral hematoma compared to routine medical management alone. MATERIAL AND METHODS:Computerized bibliographic search...
journal_title:Acta neurologica Scandinavica
pub_type: 杂志文章,meta分析
doi:10.1111/j.1600-0404.1997.tb00078.x
更新日期:1997-02-01 00:00:00
abstract::Visual evoked potentials (VEPs) were delayed in 11 out of 18 patients with Friedreich's ataxia, in 1 out of 8 patients with Strumpell's hereditary spastic ataxia, in 2 out of 5 cases with cerebellar atrophy and in 42 out of 50 patients with multiple sclerosis (MS). Responses were normal in 5 cases with Pierre Marie's ...
journal_title:Acta neurologica Scandinavica
pub_type: 杂志文章
doi:10.1111/j.1600-0404.1985.tb03197.x
更新日期:1985-03-01 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
pub_type: 杂志文章
doi:10.1034/j.1600-0404.2000.102002124.x
更新日期:2000-08-01 00:00:00
abstract:OBJECTIVES:To evaluate pain, cervical range of motion (CROM) and cognitive symptoms as predictors for poor prognosis defined as sick leave 3 years later. MATERIAL AND METHODS:In 97 patients CROM, pain intensity and cognitive symptoms were measured immediately following trauma, at 6 months and 3 years. Patients were al...
journal_title:Acta neurologica Scandinavica
pub_type: 杂志文章
doi:10.1111/j.1600-0404.2009.01305.x
更新日期:2010-10-01 00:00:00
abstract::This study is a report of 34 cases of Guillain-Barré syndrome (GBS) observed in Bangalore (South India), an endemic area for Japanese encephalitis virus (JEV) infection. Virological and immunological findings suggested an antecedent and recent JEV infection in 21/34 patients. Nineteen patients among them showed high l...
journal_title:Acta neurologica Scandinavica
pub_type: 杂志文章
doi:10.1111/j.1600-0404.1994.tb02681.x
更新日期:1994-07-01 00:00:00
abstract::The use of high-dose polyclonal intravenous immunoglobulin (IVIG) in the treatment of autoimmune neurological diseases has expanded over the last decade. Based on controlled clinical trials IVIG can be considered currently as the first-line treatment in Guillain-Barré syndrome, chronic inflammatory demyelinating polyn...
journal_title:Acta neurologica Scandinavica
pub_type: 杂志文章,评审
doi:10.1111/j.1600-0404.2009.01317.x
更新日期:2010-11-01 00:00:00
abstract::We describe a young woman who developed left ventricular failure and pulmonary edema during fulminant onset of multiple sclerosis. One of the numerous plaques was located in the left inferior cerebellar peduncle near the dorsal motor vagal and solitary tract nuclei. Within two days pulmonary edema had cleared, and wit...
journal_title:Acta neurologica Scandinavica
pub_type: 杂志文章
doi:10.1111/j.1600-0404.1996.tb00002.x
更新日期:1996-05-01 00:00:00
abstract:OBJECTIVES:To re-evaluate middle-aged Swedish patients diagnosed with dysequilibrium syndrome (DES) in childhood and to compare their clinical and neuroimaging features to DES with VLDLR gene mutations (DES-VLDR). MATERIALS AND METHODS:Six patients from five families underwent neurological examination and magnetic res...
journal_title:Acta neurologica Scandinavica
pub_type: 杂志文章
doi:10.1111/j.1600-0404.2010.01335.x
更新日期:2011-01-01 00:00:00
abstract:BACKGROUND AND PURPOSE:The purpose of this study was to examine the effects of D-amphetamine (D-amph) and physical therapy separately or combined on fine motor performance, gross motor performance and cognition after middle cerebral artery thromboembolization in rats. METHODS:Seventy-four rats were trained in appropri...
journal_title:Acta neurologica Scandinavica
pub_type: 杂志文章
doi:10.1111/j.1600-0404.2005.00547.x
更新日期:2006-03-01 00:00:00
abstract:OBJECTIVES:Alzheimer's disease assessment scale-cognitive subscale (ADAS-Cog) has become a standard clinical trials outcome for cognition, but has been recognized as deficient in areas including coverage of cognitive domains, sensitivity and standardization. Computerized test batteries may address some of these issues....
journal_title:Acta neurologica Scandinavica
pub_type: 杂志文章
doi:10.1111/j.1600-0404.2009.01309.x
更新日期:2010-10-01 00:00:00
abstract::A three generation family is presented in which rapidly progressive, early-onset Creutzfeldt-Jakob disease without typical EEG changes segregates as an autosomal dominant disease. An aspartic acid to asparagine mutation at codon 178 of the prion gene, PRNP, co-segregates with the disease. As expected, the disease alle...
journal_title:Acta neurologica Scandinavica
pub_type: 杂志文章
doi:10.1034/j.1600-0404.2001.103003139.x
更新日期:2001-03-01 00:00:00
abstract::Lymphocyte transformation responses to measles, mumps, herpes simplex and parainfluenza virus antigens and purified protein derivative of tuberculin were determined in both 78 normal controls and 40 patients with multiple sclerosis, 16 of whom were studied serially. Patients with multiple sclerosis showed significantl...
journal_title:Acta neurologica Scandinavica
pub_type: 杂志文章
doi:10.1111/j.1600-0404.1981.tb00752.x
更新日期:1981-02-01 00:00:00
abstract:OBJECTIVES:A highly adaptive aspect of human memory is the enhancement of explicit, consciously accessible memory by emotional stimuli. We studied the performance of Alzheimer's disease (AD) patients and elderly controls using a memory battery with emotional content, and we correlated these results with the amygdala an...
journal_title:Acta neurologica Scandinavica
pub_type: 杂志文章
doi:10.1111/j.1600-0404.2008.01132.x
更新日期:2009-08-01 00:00:00
abstract::We tested the validity of a self-administered version of the minimal record of disability (MRD) for multiple sclerosis (MS) by measuring the agreement level between patients' self-assessment and neurologists' independent ratings. 96 MS patients and 4 neurologists took part in the experiment; the agreement level was me...
journal_title:Acta neurologica Scandinavica
pub_type: 杂志文章
doi:10.1111/j.1600-0404.1993.tb04073.x
更新日期:1993-01-01 00:00:00
abstract:OBJECTIVE:To clarify the relationship between mitochondrial DNA (mtDNA) sequence variations and phenotypes in patients with A3243G mutation. MATERIALS AND METHODS:We studied whole mtDNA sequences in two families with A3243G mutation and characteristic clinical features. Two brothers in Family 1 had shown thiamine defi...
journal_title:Acta neurologica Scandinavica
pub_type: 杂志文章
doi:10.1034/j.1600-0404.2002.01172.x
更新日期:2002-08-01 00:00:00
abstract::Parkinson's disease (PD) surveys and death-record studies in European populations were reviewed. Particular attention was given to methodological aspects. Two sets of quality criteria were used. Four door-to-door surveys revealed underdiagnosis of prevalent idiopathic parkinsonism ranging from 30% to 71%. Quality surv...
journal_title:Acta neurologica Scandinavica
pub_type: 杂志文章,meta分析
doi:10.1111/j.1600-0404.1991.tb04969.x
更新日期:1991-10-01 00:00:00
abstract:OBJECTIVES:Perampanel is an antiepileptic drug (AED) approved for add-on treatment of focal seizures (with or without generalization) and primary generalized tonic-clonic (GTC) seizures. Our objective was to explore the effectiveness and tolerability of adjunctive perampanel in patients with drug-resistant myoclonic se...
journal_title:Acta neurologica Scandinavica
pub_type: 杂志文章,多中心研究
doi:10.1111/ane.12931
更新日期:2018-08-01 00:00:00
abstract:OBJECTIVES:Biomarkers with the potential for longitudinal measurements are needed in multiple sclerosis (MS). Urine is easy to collect, and repeated sampling is possible. METHODS:39 paired CSF and urine samples were taken. Oligoclonal bands (OCBs) were measured in CSF. Kappa and lambda free light chain (FLC), neopteri...
journal_title:Acta neurologica Scandinavica
pub_type: 杂志文章
doi:10.1111/ane.12119
更新日期:2013-11-01 00:00:00
abstract::The F response can provide a measure of motoneurone excitability (MNE) and so it may be used to investigate upper motoneurone disorders. This report studies the F-wave configuration in patients with stroke to evaluate the changes of the central excitability of the motoneurones at different times after an acute cerebra...
journal_title:Acta neurologica Scandinavica
pub_type: 杂志文章
doi:10.1111/j.1600-0404.1990.tb03311.x
更新日期:1990-11-01 00:00:00
abstract::A patient with paraneoplastic encephalomyelitis (PEM) and small cell lung cancer had a clinical presentation of acute polyneuritis. The patient had an antibody (anti-Hu) restricted to nuclei of neurons identical to that reported in patients with subacute sensory neuronopathy and lung cancer. This finding further suppo...
journal_title:Acta neurologica Scandinavica
pub_type: 杂志文章
doi:10.1111/j.1600-0404.1987.tb07928.x
更新日期:1987-04-01 00:00:00
abstract::In order to approach the mechanism of chronic or relapsing course in human chronic inflammatory demyelinating polyradiculoneuropathy, we established a chronic model of experimental allergic neuritis (EAN) in juvenile guinea pigs, and investigated the underlying cellular immune phenomenon in comparison with acute EAN i...
journal_title:Acta neurologica Scandinavica
pub_type: 杂志文章
doi:10.1111/j.1600-0404.1985.tb03214.x
更新日期:1985-05-01 00:00:00
abstract::Gamma-aminobutyric acid (GABA) is the most important inhibitory transmitter, quantitatively, in the CNS. Evidence exists that decreased GABAergic neurotransmission may play a role in some forms of epilepsy. Consequently, manipulating the GABA system may be a therapeutic possibility in the treatment of this disease. In...
journal_title:Acta neurologica Scandinavica
pub_type: 临床试验,杂志文章,评审
doi:10.1111/j.1600-0404.1988.tb03655.x
更新日期:1988-10-01 00:00:00
abstract::Four patients presented with a distinctive syndrome of "numb, clumsy hand" and tactile agnosia. Myelography and computed tomographic myelography (CTM) of the cervical spine documented major spondylotic compressive lesions mainly between the C3 and C5 levels. The cortical responses of dermatomal somatosensory evoked po...
journal_title:Acta neurologica Scandinavica
pub_type: 杂志文章
doi:10.1111/j.1600-0404.1992.tb05499.x
更新日期:1992-12-01 00:00:00
abstract::This study aimed to systematically review the literature on the epidemiology of epilepsy in Iran and to provide analytical estimates of the prevalence of various epilepsy syndromes. MEDLINE, Scopus, and Embase from inception to 30 July 2020 were systematically searched. These key words were used: "epilepsy" OR "seizur...
journal_title:Acta neurologica Scandinavica
pub_type: 杂志文章,评审
doi:10.1111/ane.13381
更新日期:2020-11-22 00:00:00
abstract:OBJECTIVE:Assessment of usefulness of magnetoencephalography (MEG) as a novel non-invasive technique in the diagnostic evaluation of patients with recurrent seizures after unsuccessful epilepsy surgery. MATERIAL AND METHODS:Seventeen patients in whom epilepsy surgery had failed underwent reevaluation by means of MEG i...
journal_title:Acta neurologica Scandinavica
pub_type: 杂志文章
doi:10.1111/j.1600-0404.1998.tb07370.x
更新日期:1998-07-01 00:00:00