Abstract:
:Neuroacanthocytosis is a progressive multisystem disease with a wide range of symptoms. The involuntary movements mainly include chorea and orofaciolingual dyskinesias. The descriptive name of the disease refers to the presence of abnormal erythrocytes in peripheral blood. Two siblings are presented. One young female had dystonia, self-mutilating behaviour, lip biting and eating difficulties. Her brother had repeated generalized epileptic seizures several years before developing choreatic movements and neuropsychiatric symptoms. Both had clinical signs of sensorimotor axonal polyneuropathy. Fresh blood smears in each patient contained between 15 and 20% acanthocytes compared to less than 2% in normal controls. Neuroacanthocytosis must be kept in mind in young adult patients without heredity for Huntington's disease and the diagnosis is easily confirmed when making a fresh blood smear.
journal_name
Acta Neurol Scandjournal_title
Acta neurologica Scandinavicaauthors
Aasly J,Skandsen T,Rø Mdoi
10.1111/j.1600-0404.1999.tb00404.xsubject
Has Abstractpub_date
1999-11-01 00:00:00pages
322-5issue
5eissn
0001-6314issn
1600-0404journal_volume
100pub_type
杂志文章abstract::Two cases of adrenoleukodystrophy are described. The pathological picture was consistent with earlier observations about the disease with the difference that the brain tissue revealed material which stained metachromatically with toluidine blue and was insoluble in fat solvents. ...
journal_title:Acta neurologica Scandinavica
pub_type: 杂志文章
doi:10.1111/j.1600-0404.1978.tb02870.x
更新日期:1978-08-01 00:00:00
abstract::Levodopa (LD) sales from wholesalers to pharmacies during the periods, 1977-1989 in Denmark, 1981-1989 in Greenland, and April 1988-May 1989 in Danish counties and the Faroe Islands, were evaluated using a reported method and a procedure expressly developed for assessment of random variation comparative levodopa use (...
journal_title:Acta neurologica Scandinavica
pub_type: 杂志文章
doi:10.1111/j.1600-0404.1995.tb00413.x
更新日期:1995-02-01 00:00:00
abstract::Subjects ranging in age from 50 to 89 years old, either with or without dementia were studied by both ELISA for anti-human T-cell lymphotropic virus type I (HTLV-I) gag 100-130 antibody and by cranial CT in order to clarify the relationship between HTLV-I infection and dementia. The frequency of anti-HTLV-I antibody w...
journal_title:Acta neurologica Scandinavica
pub_type: 杂志文章
doi:10.1111/j.1600-0404.1997.tb00288.x
更新日期:1997-11-01 00:00:00
abstract::The effects of L-threo-3,4-dihydroxyphenylserine (L-threo-DOPS), an unnatural norepinephrine precursor, on alpha 2-adrenergic receptors in platelet membranes were investigated in a patient with familial amyloidotic polyneuropathy, two patients with multiple system atrophy, and two patients with Parkinson's disease. Ea...
journal_title:Acta neurologica Scandinavica
pub_type: 杂志文章
doi:10.1111/j.1600-0404.1991.tb04901.x
更新日期:1991-07-01 00:00:00
abstract::The relation between angiographically determined cerebral vasospasm following a subarachnoid hemorrhage and regional cerebral blood flow (CBF) was studied in 63 investigations of 45 patients. The CBF was measured using the intra-arterial 133-Xe clearance technique within one hour of angiography. A positive correlation...
journal_title:Acta neurologica Scandinavica
pub_type: 杂志文章
doi:10.1111/j.1600-0404.1990.tb01598.x
更新日期:1990-08-01 00:00:00
abstract:OBJECTIVE:To investigate dopamine reuptake sites (dopamine transporter) in the caudate nucleus and putamen in narcolepsy. PATIENTS AND METHODS:Ten patients with narcolepsy and 15 controls were studied with positron emission tomography. A cocaine analogue [11C]-CFT was used as a radioligand. RESULTS:The uptake of[11C]...
journal_title:Acta neurologica Scandinavica
pub_type: 杂志文章
doi:10.1034/j.1600-0404.2003.00175.x
更新日期:2004-01-01 00:00:00
abstract:OBJECTIVE:Bilateral hippocampal abnormality is frequent in mesial temporal lobe sclerosis and might affect outcome in epilepsy surgery. The objective of this study was to compare the lateralization of interictal and ictal scalp EEG with MRI T2 relaxometry. MATERIAL AND METHODS:Forty-nine consecutive patients with intr...
journal_title:Acta neurologica Scandinavica
pub_type: 杂志文章
doi:10.1111/j.1600-0404.2004.00305.x
更新日期:2004-09-01 00:00:00
abstract:OBJECTIVE:To selectively investigate postganglionic sympathetic cardiac neurons in patients with Parkinson's disease and autonomic failure. MATERIAL AND METHODS:Metaiodobenzylguanidine (MIBG) is a pharmacologically inactive analogue of noradrenaline, which is similarly metabolized in noradrenergic neurons. Therefore t...
journal_title:Acta neurologica Scandinavica
pub_type: 杂志文章
doi:10.1111/j.1600-0404.1998.tb05958.x
更新日期:1998-05-01 00:00:00
abstract:OBJECTIVES:The pathophysiology of migraine headaches is not clearly understood yet. The dopaminergic system has been hypothesized to be involved in migraine pathogenesis. The aim of this study was to investigate catechol-O-methyltransferase (COMT) polymorphisms and chronic headaches. We analyzed five single nucleotide ...
journal_title:Acta neurologica Scandinavica
pub_type: 杂志文章
doi:10.1111/ane.12583
更新日期:2017-02-01 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
pub_type: 杂志文章
doi:10.1111/j.1600-0404.1988.tb05913.x
更新日期:1988-04-01 00:00:00
abstract::In a double-blind cross-over trial with placebo, FPL 57787, a chromone derivate, was tested on 15 patients as a prophylactic against migraine. There was found to be no effect. ...
journal_title:Acta neurologica Scandinavica
pub_type: 临床试验,杂志文章
doi:10.1111/j.1600-0404.1979.tb02923.x
更新日期:1979-03-01 00:00:00
abstract::The first case of benign IgAK monoclonal gammopathy associated with peripheral neuropathy is described. Dysautonomia is an unusual, yet prominent, manifestation of neuropathy in this patient. Electrodiagnostic testing and nerve biopsy were compatible with demyelination and axonal loss. Myelin sheath, perineural, and e...
journal_title:Acta neurologica Scandinavica
pub_type: 杂志文章
doi:10.1111/j.1600-0404.1986.tb04602.x
更新日期:1986-06-01 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
pub_type: 杂志文章
doi:
更新日期:1984-07-01 00:00:00
abstract::Patients with acute severe headache may have a secondary form of headache. Standard head computer tomography (CT) and cerebrospinal fluid (CSF) examination are often performed in the absence of neurological deficits to exclude subarachnoid hemorrhage (SAH). Increasingly, patients undergo subsequent CT angiography (CTA...
journal_title:Acta neurologica Scandinavica
pub_type: 杂志文章
doi:10.1111/ane.12302
更新日期:2015-03-01 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:OBJECTIVES:The objective was to investigate the incidence of multiple sclerosis (MS) as well as estimate the prevalence as of 1 January 2014 in the southeastern Norwegian county of Buskerud. MATERIALS AND METHODS:All patients with MS living in Buskerud county in Norway between 01 January 2003 and 01 January 2014 were ...
journal_title:Acta neurologica Scandinavica
pub_type: 杂志文章
doi:10.1111/ane.12615
更新日期:2017-04-01 00:00:00
abstract::In an attempt to establish the efficacy of the different diagnostic tests, 41 multiple sclerosis (MS) patients at different stages of the disease were studied by means of visual evoked potential (VEP) recording, T-lymphocyte subset determination cerebrospinal fluid (CSF) analysis and magnetic resonance (MR) imaging. M...
journal_title:Acta neurologica Scandinavica
pub_type: 杂志文章
doi:10.1111/j.1600-0404.1989.tb03900.x
更新日期:1989-11-01 00:00:00
abstract:BACKGROUND AND PURPOSE:The role of the natural anticoagulants, antithrombin III (AT III), protein C (PC), and protein S (PS), in patients with mild to moderate ischemic stroke remains uncertain. We aimed to find out whether their levels in peripheral blood correlated with the severity of neurological deficit or can pre...
journal_title:Acta neurologica Scandinavica
pub_type: 杂志文章
doi:10.1034/j.1600-0404.2002.1o112.x
更新日期:2002-02-01 00:00:00
abstract::In 30 ischemic stroke patients, divided into 2 groups depending on the side of their hemispheric cerebral lesion, the authors evaluated the levels of CSF homovanillic acid (HVA) and 5-hydroxyindoleacetic acid (5-HIAA). The changes of these metabolites in CSF samples collected 3, 14 and 25 days after stroke have been c...
journal_title:Acta neurologica Scandinavica
pub_type: 杂志文章
doi:10.1111/j.1600-0404.1986.tb04603.x
更新日期:1986-06-01 00:00:00
abstract::A representative sample of 117 patients with definite multiple sclerosis (MS) was interviewed on pain syndromes. Chronic syndromes lasting more than one month included dysaestesthesia, low back pain, spasms, tonic seizures, tightening and painful sensations in the extremities. Acute syndromes included neuralgia, L'Her...
journal_title:Acta neurologica Scandinavica
pub_type: 杂志文章
doi:10.1111/j.1600-0404.1991.tb04937.x
更新日期:1991-09-01 00:00:00
abstract:OBJECTIVE:To evaluate the clinical course of patients with myasthenia gravis (MG) up to 3 months after double filtration plasmapheresis (DFP). MATERIAL AND METHODS:We recorded the MG score and measured the level of acetylcholine receptor antibody (AchRAb) at baseline and day 1 (D1), week 1 (W1), 1 month (M1), 2 (M2) a...
journal_title:Acta neurologica Scandinavica
pub_type: 杂志文章
doi:10.1034/j.1600-0404.2003.00107.x
更新日期:2003-09-01 00:00:00
abstract:OBJECTIVES:"Epileptic dementia" is reported in adults with childhood-onset refractory epilepsy. Cognitive deterioration can also occur in a "second-hit model". MATERIALS AND METHODS:We studied the clinical and neuropsychological characteristics of patients with cognitive deterioration (≥1 SD discrepancy between curren...
journal_title:Acta neurologica Scandinavica
pub_type: 杂志文章
doi:10.1111/ane.12700
更新日期:2017-07-01 00:00:00
abstract:BACKGROUND:Some recent studies have found an association between foetal malformations in earlier antiepileptic drug (AED)-exposed pregnancies and an increased hazard of such malformations in subsequent pregnancies. We investigated this matter further, and also considered the possible role of spontaneous abortions in pr...
journal_title:Acta neurologica Scandinavica
pub_type: 杂志文章
doi:10.1111/ane.12672
更新日期:2017-03-01 00:00:00
abstract::The association of cortical tremor, myoclonus and epileptic seizures has been reported in many Japanese and European families with different acronyms. We reviewed the familial cases presenting the clinical picture of autosomal dominant cortical tremor, myoclonus and epilepsy and analysed the phenotypic differences bet...
journal_title:Acta neurologica Scandinavica
pub_type: 杂志文章
doi:10.1111/j.1600-0404.2005.00385.x
更新日期:2005-04-01 00:00:00
abstract::Vigabatrin (VGB), an irreversible inhibitor of gamma-aminobutyric acid (GABA) transaminase, is approved as adjunct treatment of refractory partial seizures as well as infantile spasms. Although VGB has been proven to be effective, its use is limited by the risk of retinopathy and associated peripheral visual field def...
journal_title:Acta neurologica Scandinavica
pub_type: 杂志文章,评审
doi:10.1111/j.1600-0404.2012.01684.x
更新日期:2012-10-01 00:00:00
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journal_title:Acta neurologica Scandinavica
pub_type: 杂志文章
doi:10.1111/j.1600-0404.1999.tb07349.x
更新日期:1999-04-01 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
pub_type: 杂志文章
doi:10.1111/j.1600-0404.2010.01482.x
更新日期:2011-11-01 00:00:00
abstract:OBJECTIVES:Multiple sclerosis (MS) patients suffer from high levels of anxiety. However, it is unclear which factors are related to anxiety, since study results are inconsistent, and the associated factors have not been examined comprehensively. In this study, we investigated the demographic, disease-related and psycho...
journal_title:Acta neurologica Scandinavica
pub_type: 杂志文章
doi:10.1111/ane.13191
更新日期:2020-03-01 00:00:00
abstract::We present a 47-year-old white woman who had a definitive diagnosis of systemic lupus erythematosus (SLE), and developed cerebellar ataxia of sudden onset. MR imaging showed changes characteristics of cerebellar infarct. Due to the absence of vascular risk factors and to the previous diagnosis of SLE, we postulate tha...
journal_title:Acta neurologica Scandinavica
pub_type: 杂志文章
doi:10.1111/j.1600-0404.1992.tb05111.x
更新日期:1992-10-01 00:00:00
abstract:OBJECTIVES:Vascular endothelial growth factor (VEGF) acts in angiogenesis and neuroprotection, although the beneficial effects on experimental ischemic stroke (IS) have not been replicated in clinical studies. We investigated serum VEGF (s-VEGF) in the acute stage (baseline) and 3 months post-stroke in relation to stro...
journal_title:Acta neurologica Scandinavica
pub_type: 杂志文章
doi:10.1111/ane.13219
更新日期:2020-05-01 00:00:00