A clustering of unfavourable common genetic mutations in stroke cases.


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 clinically homogeneous subgroup of stroke patients, the prothrombin A20210G, Hong Kong, Cambridge and methylenetetrahydrofolate reductase C677T (MTHFR C677T) mutations, angiotensin-converting enzyme polymorphism (ACE polymorphism) and apolipoprotein E (APO E) genotype were examined. RESULTS:In all 5 patients, the same type of clustering of three mutations was manifested. A heterozygous Leiden V mutation was observed in all 5 subjects, while a heterozygous MTHFR C677T mutation and an I/D genotype for ACE polymorphism were detected in 4 of them, and a homozygous D/D genotype and a homozygous MTHFR C677T mutation in 1. This type of clustering of the mutations was not observed in the remaining 401 stroke patients. CONCLUSION:These results suggest that the Leiden mutation might possibly be an aetiological factor for stroke in a rare subgroup of patients who do not display any of the classical risk factors. The roles of ACE D polymorphism and the MTHFR C677T mutation in stroke, should also be taken into consideration in this subgroup of stroke patients. These unfavourable genetic factors might be aetiological factors if they are clustered together in a stroke patient not presenting any of the standard clinical risk factors.


Acta Neurol Scand


Szolnoki Z,Somogyvári F,Szabó M,Fodor L




Has Abstract


2000-08-01 00:00:00












  • Pediatric frontal lobe epilepsy: white matter abnormalities and cognitive impairment.

    abstract:OBJECTIVES:Cognitive impairment is frequent in children with frontal lobe epilepsy (FLE). Its etiology remains unknown. With diffusion tensor imaging, we have studied cerebral white matter properties and associations with cognitive functioning in children with FLE and healthy controls. METHODS:Thirty children aged 8-1...

    journal_title:Acta neurologica Scandinavica

    pub_type: 杂志文章


    authors: Braakman HM,Vaessen MJ,Jansen JF,Debeij-van Hall MH,de Louw A,Hofman PA,Vles JS,Aldenkamp AP,Backes WH

    更新日期:2014-04-01 00:00:00

  • Bilateral mesial temporal lobe epilepsy: comparison of scalp EEG and hippocampal MRI-T2 relaxometry.

    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


    authors: Okujava M,Schulz R,Hoppe M,Ebner A,Jokeit H,Woermann FG

    更新日期:2004-09-01 00:00:00

  • Diseases associated with multiple sclerosis and epilepsy. A population cohort study of 159,200 middle-aged, urban, native Swedes observed over 10 years (1970-79).

    abstract::A defined general population of 159,200 male and female native Swedes born in the period 1911-1940 from an urban catchment area of the then only general hospital, was followed over a decade (1970-79) with regard to in-patient hospitalization for all kinds of diagnoses. As a part of this population cohort study, multip...

    journal_title:Acta neurologica Scandinavica

    pub_type: 杂志文章


    authors: Lindegård B

    更新日期:1985-04-01 00:00:00

  • Potential role of brivaracetam in pediatric epilepsy.

    abstract::Brivaracetam (BRV) is a new antiseizure medication (ASM) that is currently approved for adjunctive treatment in patients with focal onset seizures. Similarly to levetiracetam (LEV), BRV works by binding SV2A vesicles with a high affinity and a linear pharmacokinetic profile. Retrospective studies and randomized clinic...

    journal_title:Acta neurologica Scandinavica

    pub_type: 杂志文章


    authors: Verrotti A,Grasso EA,Cacciatore M,Matricardi S,Striano P

    更新日期:2020-09-23 00:00:00

  • R-R interval variation in Parkinson's disease and multiple system atrophy.

    abstract:OBJECTIVE:To investigate whether the cardiac R-R interval variation (RRIV) is of value in differentiating patients with Parkinson's disease (PD) from multiple system atrophy (MSA). BACKGROUND:RRIV assessment is a simple procedure, reflecting mainly vagal efferent activity. Reduced RRIV was reported in MSA. METHODS:RR...

    journal_title:Acta neurologica Scandinavica

    pub_type: 杂志文章


    authors: Gurevich TY,Groozman GB,Giladi N,Drory VE,Hausdorff JM,Korczyn AD

    更新日期:2004-04-01 00:00:00

  • Antiepileptic drugs and depression during pregnancy in women with epilepsy.

    abstract:OBJECTIVES:To assess the possibility that the occurrence of seizures or the use of antiepileptic drug (AED) therapy might have influenced the rate of occurrence of volunteered histories of patient-recognized depression during pregnancy in women with epilepsy. MATERIALS AND METHODS:Analysis of data from 2039 pregnancie...

    journal_title:Acta neurologica Scandinavica

    pub_type: 杂志文章


    authors: Vajda FJE,O'Brien TJ,Graham JE,Hitchcock AA,Mitchell J,Horgan D,Lander CM,Eadie MJ

    更新日期:2020-10-01 00:00:00

  • Cerebral hemodynamics before and after shunting in normal pressure hydrocephalus.

    abstract:OBJECTIVE:To study the relationship between cerebral hemodynamics and clinical performance in normal pressure hydrocephalus (NPH), before and after surgery. MATERIAL AND METHODS:Ten patients were studied prospectively before and 3 months after shunt surgery by means of transcranial Doppler (TCD). Clinical performance ...

    journal_title:Acta neurologica Scandinavica

    pub_type: 杂志文章


    authors: Bakker SL,Boon AJ,Wijnhoud AD,Dippel DW,Delwel EJ,Koudstaal PJ

    更新日期:2002-09-01 00:00:00

  • Abnormalities of mitochondrial enzymes in hereditary ataxias.

    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


    authors: Sorbi S,Piacentini S,Fani C,Tonini S,Marini P,Amaducci L

    更新日期:1989-08-01 00:00:00

  • Immediate prognosis of primary intracerebral hemorrhage using an easy model for the prediction of survival.

    abstract::We reviewed the medical records and CT scans of 138 patients hospitalized for spontaneous supratentorial hemorrhage and conservatively treated. Seventeen clinico-anamnestic variables and five CT desumed findings were collected. Using univariate analysis we found eight significant predictors of 30-day mortality: intrav...

    journal_title:Acta neurologica Scandinavica

    pub_type: 杂志文章


    authors: Masè G,Zorzon M,Biasutti E,Tasca G,Vitrani B,Cazzato G

    更新日期:1995-04-01 00:00:00

  • Outcome following occlusion of the middle cerebral artery.

    abstract::Outcome was studied prospectively in 28 consecutive patients with occlusion of the middle cerebral artery (MCA). They comprise a subgroup of 101 consecutive patients with TIA or stroke less than or equal to 75 years of age, admitted within 72 h after the stroke. Cerebral angiography and CT-scan were performed within 1...

    journal_title:Acta neurologica Scandinavica

    pub_type: 杂志文章


    authors: Olsen TS

    更新日期:1991-04-01 00:00:00

  • The effect of age on motor deficits and cerebral glucose metabolism of Parkinson's disease.

    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

    pub_type: 杂志文章


    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

  • Cerebral blood flow, cerebrovascular resistance and cerebral metabolic rate of oxygen in severe arterial hypoxia in dogs.

    abstract::Cerebral blood flow and cerebral oxygen uptake were studied during severe arterial hypoxia in anesthetized dogs. It was shown that the hypoxic vasodilatation in the brain reaches a limit at an arterial oxygen saturation at about 25% and that this vasodilatation is less than that which may be induced by hypercapnia. A ...

    journal_title:Acta neurologica Scandinavica

    pub_type: 杂志文章


    authors: Ekström-Jodal B,Elfverson J,von Essen C

    更新日期:1979-07-01 00:00:00

  • Alterations in polyadenylic acid-containing messenger RNA synthesis of brain polysomes after seizures of seizure-susceptible E1 mice.

    abstract::The effect of seizures on synthesis of the polyadenylic acid (poly(A]-containing messenger RNA (mRNA) isolated from brain polysomes in a genetically seizure-susceptible E1 mouse was studied in vivo. The seizure in the E1 mice was induced by tossed-up stimulation. Immediately after the seizure ceased, the labeled oroti...

    journal_title:Acta neurologica Scandinavica

    pub_type: 杂志文章


    authors: Yamagami S,Onishi H,Kawakita Y

    更新日期:1989-10-01 00:00:00

  • Manifesting carrier of Becker muscular dystrophy (BMD): clinical and recombinant DNA studies.

    abstract::We studied a Becker muscular dystrophy (BMD) family with a manifesting carrier. Proximal muscle weakness, pseudohypertrophy of the calves, significantly elevated serum creatine kinase and dystrophic alterations in the muscle biopsy were the characteristic phenotypical features of this manifesting carrier. The recombin...

    journal_title:Acta neurologica Scandinavica

    pub_type: 杂志文章


    authors: Ionasescu VV,Searby CC,Ionasescu R

    更新日期:1989-06-01 00:00:00

  • Methods of measurement of thermal thresholds.

    abstract::Thermal tests were performed in 117 healthy subjects on the face, wrist and leg; 32 were tested on the legs with different rates of cooling and warming. Additionally 2 groups of diabetics (37 patients) were tested. Thermotesting was most sensitive on the legs using a rate of temperature change of 2.5-2.8 oC/s. Warm an...

    journal_title:Acta neurologica Scandinavica

    pub_type: 杂志文章


    authors: Claus D,Hilz MJ,Hummer I,Neundörfer B

    更新日期:1987-10-01 00:00:00

  • Macrosomatognosia and microsomatognosia in migraine art.

    abstract:OBJECTIVES:To study macrosomatognosia and microsomatognosia occurring as migraine aura symptoms. MATERIAL AND METHODS:Topological distribution of these body schema disturbances were assessed in a collection of 562 pictures submitted as entries to the 4 national Migraine Art competitions. RESULTS:The said symptoms wer...

    journal_title:Acta neurologica Scandinavica

    pub_type: 杂志文章


    authors: Robinson D,Podoll K

    更新日期:2000-06-01 00:00:00

  • Familial amyloidosis with polyneuropathy - type 1. A neurophysiological study of peripheral nerve function.

    abstract::Twenty-four consecutive patients with familial amyloidosis with polyneuropathy (type 1), who were at different stages of the disease were investigated. The purpose was to report the electrophysiological features and to compare them with those found in other generalized neuropathies; 12 cases were familiar and 12 cases...

    journal_title:Acta neurologica Scandinavica

    pub_type: 杂志文章


    authors: Blom S,Steen L,Zetterlund B

    更新日期:1981-02-01 00:00:00

  • Serum soluble interleukin-2 receptor levels in chronic progressive, stable and steroid-treated multiple sclerosis.

    abstract::Serum levels of the soluble interleukin-2 receptor (sIL-2R), an indicator of T cell activation, were significantly elevated in chronic progressive MS (CPMS) patients, clinically stable MS patients and in patients with other neurological diseases (OND) as compared to healthy controls. Levels of sIL-2R in steroid treate...

    journal_title:Acta neurologica Scandinavica

    pub_type: 杂志文章


    authors: Bansil S,Troiano R,Cook SD,Rohowsky-Kochan C

    更新日期:1991-10-01 00:00:00

  • The linoleic acid depression (LAD) test for multiple sclerosis using the macrophage electrophoretic mobility (MEM) test.

    abstract::With the macrophage electrophoretic mobility (MEM) test of Field & Caspary, lymphocyte sensitization to thyroid antigen (F1-fraction) is demonstrable in all subjects--multiple sclerosis (MS) patients, those with other (destructive) neurological diseases (OND) and normals. The MEM-LAD test enables a further differentia...

    journal_title:Acta neurologica Scandinavica

    pub_type: 杂志文章


    authors: Jenssen HL,Meyer-Rienecker HJ,Köhler H,Günther JK

    更新日期:1976-01-01 00:00:00

  • Natural anticoagulants (antithrombin III, protein C, and protein S) in patients with mild to moderate ischemic stroke.

    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


    authors: Haapaniemi E,Tatlisumak T,Soinne L,Syrjälä M,Kaste M

    更新日期:2002-02-01 00:00:00

  • Paraneoplastic neurological syndrome due to burned-out testicular tumor showing hot cross-bun sign.

    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


    authors: Ishikawa H,Kawada N,Taniguchi A,Odachi K,Mizutani A,Asahi M,Tomimoto H

    更新日期:2016-05-01 00:00:00

  • Hereditary spastic paraplegia with neurogenic bladder disturbances and syndactylia.

    abstract::The present paper reports a family settled in the northern part of Norway, with a hereditary neurological disorder consisting clinically of spastic paraplegia associated with neurogenic bladder disturbances and syndactylia. Nine out of 22 members in three generations exhibit these clinical features. The bladder distur...

    journal_title:Acta neurologica Scandinavica

    pub_type: 杂志文章


    authors: Opjordsmoen S,Nyberg-Hansen R

    更新日期:1980-01-01 00:00:00

  • Utility of hospitalization following a first unprovoked seizure.

    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


    authors: Goldberg I,Neufeld MY,Auriel E,Gandelman-Marton R

    更新日期:2013-07-01 00:00:00

  • Electroencephalographic examination of 64 Danish Turner girls.

    abstract::An EEG study of 64 Danish Turner girls and age-matched controls was made. The characteristic findings in the basic EEG rhythms of Turner girls were: 1) alpha activity of more rapid frequency (10.5+ Hz), lower amplitude (-20 microV, lower amount (-30%) and diffuse areas, 2) beta activity of slower frequency (14-18 Hz),...

    journal_title:Acta neurologica Scandinavica

    pub_type: 杂志文章


    authors: Tsuboi T,Nielsen J

    更新日期:1985-12-01 00:00:00

  • Progressive supranuclear palsy revisited.

    abstract::Current understanding on the historic, epidemiologic, genetic, clinical, neuropathologic, neurochemical, diagnostic and therapeutic aspects of progressive supranuclear palsy (PSP) are revisited. In addition, new research directions are described. ...

    journal_title:Acta neurologica Scandinavica

    pub_type: 更正并重新发布的文章,杂志文章,评审


    authors: Litvan I

    更新日期:1998-12-01 00:00:00

  • A clinico-pathoanatomical study of multiple sclerosis diagnosis.

    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


    authors: Engell T

    更新日期:1988-07-01 00:00:00

  • Cerebral abscesses among Danish patients with hereditary haemorrhagic telangiectasia.

    abstract:BACKGROUND:Hereditary haemorrhagic telangiectasia (HHT) is a dominantly inherited disease characterized by a wide variety of clinical manifestations, including pulmonary arteriovenous malformations (PAVMs), which due to paradoxical embolization may cause cerebral abscess. OBJECTIVE:To estimate the risk of cerebral abs...

    journal_title:Acta neurologica Scandinavica

    pub_type: 杂志文章


    authors: Kjeldsen AD,Tørring PM,Nissen H,Andersen PE

    更新日期:2014-03-01 00:00:00

  • Variation of therapeutic response in Parkinson's disease: a retrospective study.

    abstract::A retrospective study of variations of therapeutic response (dyskinesia and on-off phenomenon) in Parkinson's disease was conducted on 278 patients treated with levodopa for at least 6 months and hospitalized at National Neurological Institute "C. Besta" of Milan between 1974 and 1984. Variations of therapeutic respon...

    journal_title:Acta neurologica Scandinavica

    pub_type: 杂志文章


    authors: Geminiani G,Cesana BM,Scigliano G,Soliveri P,Girotti F,Giovannini P,Caraceni T

    更新日期:1990-05-01 00:00:00

  • Parkinson syndrome as a manifestation of mitochondriopathy.

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    journal_title:Acta neurologica Scandinavica

    pub_type: 杂志文章


    authors: Finsterer J

    更新日期:2002-05-01 00:00:00

  • Neuroacanthocytosis--the variability of presenting symptoms in two siblings.

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    journal_title:Acta neurologica Scandinavica

    pub_type: 杂志文章


    authors: Aasly J,Skandsen T,Rø M

    更新日期:1999-11-01 00:00:00