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 deficiency and mitochondrial myopathy without central nervous system involvement. In Family 2, a 16-year-old woman showed the symptoms of mitochondrial encephalopathy, lactic acidosis, and stroke-like episodes (MELAS). Her mother had had diabetes mellitus and died at the age of 42. The proportion of A3243G mtDNA in blood was 87 and 89% in the patients of Family 1, and 25% in the patient and less than 5% in the mother of Family 2. RESULTS:The mtDNA analysis revealed the following homoplasmic substitutions: T1520C and C12153T found only in Family 1, and A15954G found only in Family 2. These substitutions were not detected in seven other MELAS patients or in 50 controls. CONCLUSION:These substitutions might be specific to these families and could be one of the factors that modulate their clinical features together with the A3243G mutation.
journal_name
Acta Neurol Scandjournal_title
Acta neurologica Scandinavicaauthors
Morovvati S,Nakagawa M,Sato Y,Hamada K,Higuchi I,Osame Mdoi
10.1034/j.1600-0404.2002.01172.xsubject
Has Abstractpub_date
2002-08-01 00:00:00pages
104-8issue
2eissn
0001-6314issn
1600-0404pii
1o172journal_volume
106pub_type
杂志文章abstract::During the period 1935-1976, 200 cases of brain abscess were treated in the University Clinic of Neurosurgery, Rigshospitalet, Copenhagen. 119 patients survived. Out of 40 deaths during the follow-up period, 37 were unrelated to the previous brain abscess. 12 patients emigrated and were lost to follow-up. History and ...
journal_title:Acta neurologica Scandinavica
pub_type: 杂志文章
doi:10.1111/j.1600-0404.1983.tb03150.x
更新日期:1983-06-01 00:00:00
abstract:BACKGROUND:One of recent interesting hypotheses of transient global amnesia (TGA) pathophysiology is the preexisting vulnerability of the memory network in patients with TGA. AIM OF THE STUDY:To verify the hypothesis that patients with recurrent amnestic attacks may have more disrupted structural connectivity than pat...
journal_title:Acta neurologica Scandinavica
pub_type: 杂志文章
doi:10.1111/ane.12518
更新日期:2016-08-01 00:00:00
abstract:OBJECTIVES:The aim of this study was to re-evaluate the clinical features of stroke in children, their outcome and the place of the different mechanisms, in the light of CT-scan and magnetic resonance imaging. METHODS:A 10-year review of the Dijon Childhood Neurology Clinic experience (1985-1995) identified 54 patient...
journal_title:Acta neurologica Scandinavica
pub_type: 杂志文章
doi:10.1111/j.1600-0404.1997.tb00306.x
更新日期:1997-12-01 00:00:00
abstract:INTRODUCTION:The objective of the study was to estimate the prevalence of parkinsonism in the Province of Rome using antiparkinsonian prescription histories from 1986 to 1991. METHODS:A subject was defined as a case of parkinsonism if he/she had received "specific" and "consistent" antiparkinsonian therapy in the stud...
journal_title:Acta neurologica Scandinavica
pub_type: 杂志文章
doi:10.1111/j.1600-0404.1995.tb00465.x
更新日期:1995-07-01 00:00:00
abstract:BACKGROUND:There has been a long-standing interest in the possible role of the hippocampus in autism and both postmortem brain and neuroimaging studies have documented varying abnormalities in this limbic system structure. AIMS:This study investigates the density of subsets of hippocampal interneurons, immunostained w...
journal_title:Acta neurologica Scandinavica
pub_type: 杂志文章
doi:10.1111/j.1600-0404.2009.01234.x
更新日期:2010-02-01 00:00:00
abstract::Eleven patients with presenile Alzheimer type dementia (ATD) were treated with N-terminal ACTH fragments for 14 days. No change in cognitive functions was observed during the treatment. A significant increase in CSF beta-endorphin (beta-EP) levels was found, while ACTH and beta-lipoprotein remain unaffected. The possi...
journal_title:Acta neurologica Scandinavica
pub_type: 杂志文章
doi:10.1111/j.1600-0404.1988.tb03636.x
更新日期:1988-08-01 00:00:00
abstract:AIMS:To conduct a psychometric analysis to determine the adequacy of instruments that measure cognition in Alzheimer's disease trials. BACKGROUND:Both the Alzheimer's Disease Assessment Scale - Cognition (ADAS-Cog) and the Neuropsychological Test Battery (NTB) are validated outcome measures for clinical trials in Alzh...
journal_title:Acta neurologica Scandinavica
pub_type: 杂志文章
doi:10.1111/ane.12153
更新日期:2014-02-01 00:00:00
abstract:BACKGROUND:Persons who have suffered from acute poliomyelitis may decades later experience reduction of balance and gait capacity due to muscle weakness, fatigue and/or pain. This may affect the activity level in daily life of these persons. AIMS OF THE STUDY:The aim of this study was to describe observer assessed and...
journal_title:Acta neurologica Scandinavica
pub_type: 杂志文章
doi:10.1111/j.1600-0404.2006.00443.x
更新日期:2006-01-01 00:00:00
abstract::50 open-heart patients were investigated using simultaneous clinical, electroencephalographical (EEG) and neuropsychological evaluation in order to assess the possibilities of predicting the postoperative outcome with preoperative measures. The presence of one or more of the following indices was prognostically unfavo...
journal_title:Acta neurologica Scandinavica
pub_type: 杂志文章
doi:10.1111/j.1600-0404.1982.tb04535.x
更新日期:1982-12-01 00:00:00
abstract::To investigate the blood-brain barrier (BBB function), serum and cerebrospinal fluid (CSF) from 118 patients with Alzheimer's disease (AD) and 50 healthy controls was analyzed with regard to albumin concentrations. For the AD group, clinical vascular factors were also recorded. The CSF/serum albumin ratio was used as ...
journal_title:Acta neurologica Scandinavica
pub_type: 杂志文章
doi:10.1111/j.1600-0404.1990.tb01563.x
更新日期:1990-04-01 00:00:00
abstract::In 5 patients with definite or highly probable MS, unusually large hypodense plaques are seen by computerized tomography (CT scan). The active plaques all show enhancement after i.v. contrast medium injection, suggestive of blood-brain-barrier-damage, and differ from the well-known CT findings in chronic MS patients, ...
journal_title:Acta neurologica Scandinavica
pub_type: 杂志文章
doi:10.1111/j.1600-0404.1983.tb04820.x
更新日期:1983-08-01 00:00:00
abstract:BACKGROUND:Paraneoplastic neurological syndromes (PNS) are rare remote effect of cancer. The antibodies and tumors associated with PNS have been well described, but there are still many clinically suspected cases in which no tumor or antibody can be identified. This is the first report of PNS showing hot cross-bun sign...
journal_title:Acta neurologica Scandinavica
pub_type: 杂志文章
doi:10.1111/ane.12469
更新日期:2016-05-01 00:00:00
abstract:UNLABELLED:The basal ganglia are thought to be involved in the primary dystonias, largely because of the repeated demonstration of neuropathological changes in these nuclei in the secondary dystonias. A hyperactivity of a network involving basal ganglia has been suggested in experimental animal dystonia. To test this h...
journal_title:Acta neurologica Scandinavica
pub_type: 杂志文章
doi:10.1111/j.1600-0404.1996.tb07049.x
更新日期:1996-09-01 00:00:00
abstract::Many anticonvulsants are known to cause osteomalacia, however, carbamazepine has not previously been studied in this regard. We studied 31 patients on carbamazepine (mean dose 758 mg +/- s.d. 468 mg per day), as a single drug for epilepsy for a duration of 20.5 +/- 10 months. Three patients (10%) had hypocalcaemia, an...
journal_title:Acta neurologica Scandinavica
pub_type: 杂志文章
doi:10.1111/j.1600-0404.1980.tb03037.x
更新日期:1980-11-01 00:00:00
abstract::The activity of 7 mitochondrial enzymes, fumarase, NAD-malate dehydrogenase (MDH), citrate synthase (CS), valine dehydrogenase (VDH), succinate dehydrogenase (SDH), glutamate dehydrogenase (GDH), pyruvate dehydrogenase complex (PDHC) has been measured in platelet preparations from patients affected by Friedreich's ata...
journal_title:Acta neurologica Scandinavica
pub_type: 杂志文章
doi:10.1111/j.1600-0404.1989.tb03849.x
更新日期:1989-08-01 00:00:00
abstract::The influence on the cystometrogram of repeated filling and varying filling rates was studied in two groups of neurological patients, one with normal and one with uninhibited neurogenic bladder. A technique which permits an even bladder filling and a continuous recording of the intravesical pressure was used. The effe...
journal_title:Acta neurologica Scandinavica
pub_type: 杂志文章
doi:
更新日期:1981-09-01 00:00:00
abstract:OBJECTIVES:This study aimed to investigate whether neurological disability status, heart rate variability (HRV), cardiorespiratory fitness (CRF) explained the variance in depressive symptoms in multiple sclerosis (MS). METHODS:Associations between CRF (via maximal oxygen uptake; VO2peak ), HRV indices of normalized ul...
journal_title:Acta neurologica Scandinavica
pub_type: 杂志文章
doi:10.1111/ane.12748
更新日期:2017-11-01 00:00:00
abstract::Taurine content of 199 clinical muscle biopsies was determined and correlated to histometric data of 121 cases. Taurine concentration in muscles was markedly dependent on fiber type distribution, taurine being more abundant in the slow, oxidative type 1 fibers than in the type 2 fibers. Taurine concentration rose slig...
journal_title:Acta neurologica Scandinavica
pub_type: 杂志文章
doi:10.1111/j.1600-0404.1990.tb00923.x
更新日期:1990-01-01 00:00:00
abstract::Among industrial solvents in present use trichloroethylene belongs to those which have been the concern of most neurological and occupational investigations since the beginning of this century. Reports on a broad spectrum of neurotoxicity are however mostly based on case-studies and accidental circumstances. The objec...
journal_title:Acta neurologica Scandinavica
pub_type: 杂志文章
doi:10.1111/j.1600-0404.1993.tb04101.x
更新日期:1993-03-01 00:00:00
abstract:INTRODUCTION:The aim of this study was to examine the coping strategies of 49 patients with amyotrophic lateral sclerosis (ALS) and their relationships with medical and demographic data. METHODS:A total of 49 subjects were asked to fill out a document that would provide their demographic and medical data. Then, each o...
journal_title:Acta neurologica Scandinavica
pub_type: 杂志文章
doi:10.1111/j.1600-0404.2011.01513.x
更新日期:2012-02-01 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::Treatment with intraventricular pentosan polysulphate (PPS) might be beneficial in patients with Creutzfeldt-Jakob disease. We report a 68-year-old woman with sporadic Creutzfeldt-Jakob disease who received continuous intraventricular PPS infusion (1-120 microg/kg/day) for 17 months starting 10 months after the onset ...
journal_title:Acta neurologica Scandinavica
pub_type: 杂志文章
doi:10.1111/j.1600-0404.2009.01272.x
更新日期:2010-02-01 00:00:00
abstract::Regional blood flow in the spinal cord was measured in rabbits, cats and monkeys with radioactively labelled microspheres. The reproducibility of the method was tested in rabbits by 3 consecutive determinations with differently labelled microspheres within the different cord regions, and was found to be good. In all 3...
journal_title:Acta neurologica Scandinavica
pub_type: 杂志文章
doi:10.1111/j.1600-0404.1984.tb00828.x
更新日期:1984-10-01 00:00:00
abstract::The diagnosis of multiple sclerosis (MS) is clinical and verifiable at post mortem. Neuropathological examination of 518 consecutive patients with clinically definite MS revealed a correct diagnosis in 485 cases (94%). Clinical diagnosis had been established by a neurologist in all cases. Erroneous diagnosis included ...
journal_title:Acta neurologica Scandinavica
pub_type: 杂志文章
doi:10.1111/j.1600-0404.1988.tb03616.x
更新日期:1988-07-01 00:00:00
abstract::Transitional progressive multiple sclerosis (MS) is quite an unusual form of presentation and course of the disease. A case with this progressive form is presented and brain MRI and MTI findings are discussed in relation to the possible insight they may provide for understanding the mechanisms that determine progressi...
journal_title:Acta neurologica Scandinavica
pub_type: 杂志文章
doi:10.1111/j.1600-0404.1995.tb01036.x
更新日期:1995-08-01 00:00:00
abstract::Using organotypic cultures of ICR mouse cerebellum, we studied the effects of TNF-alpha on myelin formation, and its demyelinating effects. Mature, myelinated cultures were resistant to TNF-alpha, even at the highest concentration examined, 1 x 10(4) U/ml. However, when cultures were grown in medium containing TNF-alp...
journal_title:Acta neurologica Scandinavica
pub_type: 杂志文章
doi:10.1111/j.1600-0404.1995.tb05847.x
更新日期:1995-01-01 00:00:00
abstract::IgG subgroups (IgG1, IgG2, IgG3, IgG4) were determined by radioimmunoassay (RIA) in cerebrospinal fluid (CSF) of controls, multiple sclerosis (MS), infectious diseases (ID) and other neurological diseases (OND). The proportion of IgG1 in the total IgG subgroup concentration was significantly higher in the MS group com...
journal_title:Acta neurologica Scandinavica
pub_type: 杂志文章
doi:10.1111/j.1600-0404.1979.tb02982.x
更新日期:1979-01-01 00:00:00
abstract:BACKGROUND:Delayed-release dimethyl fumarate (DMF) treatment can be associated with reduced lymphocyte and leucocyte counts, which might persist after DMF discontinuation. CASE PRESENTATION:We report the case of a patient with severe disease reactivation despite prolonged lymphopenia after DMF discontinuation. We desc...
journal_title:Acta neurologica Scandinavica
pub_type: 杂志文章,评审
doi:10.1111/ane.12882
更新日期:2018-06-01 00:00:00
abstract:OBJECTIVES:Myotonic dystrophy type 1 (DM1) is the most common adult-onset muscular dystrophy. It is associated with motor symptoms but patients also display non-motor symptoms such as particular personality traits. Studies have reported mixed results about personality characteristics which may be attributable to small ...
journal_title:Acta neurologica Scandinavica
pub_type: 杂志文章
doi:10.1111/ane.12356
更新日期:2015-07-01 00:00:00
abstract:INTRODUCTION:In patients with cervical root syndromes, the relation between clinical findings and EMG results, the value of the registration of the H-reflex latency of the flexor carpi radial muscle (HFCR) and the rate of recovery of EMG abnormalities following surgery are unclear. METHODS:In 68 patients with cervical...
journal_title:Acta neurologica Scandinavica
pub_type: 临床试验,杂志文章,随机对照试验
doi:10.1111/j.1600-0404.1995.tb00138.x
更新日期:1995-10-01 00:00:00