Abstract:
OBJECTIVES:Dopamine neurotransmission is a critical factor for executive function, which is controlled by the prefrontal cortex in humans. Although the contribution of genetic factors to the regulation of brain dopaminergic activity is widely acknowledged, identification of a genotype-phenotype association has not yet been clearly established. In this study, we therefore evaluated the effects of five functional single-nucleotide polymorphisms (SNPs) in specific genes related to dopamine neurotransmission on executive function in a general population. MATERIALS AND METHODS:Participants of the health examination at the Shimane Institute of Health Science were recruited for this study (n = 964). To evaluate executive function, the Frontal Assessment Battery (FAB) was administered. SNPs were genotyped using the TaqMan method. RESULTS:A significant association was found between an SNP in the catechol-O-methyltransferase (COMT) gene (rs4680) encoding the low-activity Met allele and FAB score (P = 0.003). Of note, the flexibility subset of the FAB was associated with the SNP in COMT (P = 0.003) after adjustment for confounding factors. The generalized multifactor dimensionality reduction method identified that the combination of two SNPs in the COMT gene (rs4680) and the dopamine D4 receptor gene (rs1800955) had a significant effect on FAB score. CONCLUSIONS:Our study indicates a contribution of rs4680 in the COMT gene to the variability in executive function, as assessed by the FAB. In addition, we have indicated that a complex gene-gene interaction between SNPs in the genes related to dopamine neurotransmission may influence executive function in a general population.
journal_name
Acta Neurol Scandjournal_title
Acta neurologica Scandinavicaauthors
Mitaki S,Isomura M,Maniwa K,Yamasaki M,Nagai A,Nabika T,Yamaguchi Sdoi
10.1111/j.1600-0404.2012.01673.xsubject
Has Abstractpub_date
2013-01-01 00:00:00pages
70-6issue
1eissn
0001-6314issn
1600-0404journal_volume
127pub_type
杂志文章abstract::The possibility of disturbed dopamine and serotonin metabolism in senile dementia of Alzheimer type was studied. The basal concentrations of homovanillic acid (HVA) and 5-hydroxyindoleacetic acid (5-HIAA) in cerebrospinal fluid (CSF) were studied in 28 patients with senile dementia of Alzheimer type and in 13 controls...
journal_title:Acta neurologica Scandinavica
pub_type: 杂志文章
doi:10.1111/j.1600-0404.1981.tb04392.x
更新日期:1981-08-01 00:00:00
abstract:OBJECTIVES:Post-stroke cognitive impairment (PSCI) has considerable impact on patients and society. However, long-term studies on PSCI are scarce and may be influenced by assessment methods and selection bias. We aimed to (i) assess the prevalence of long-term PSCI; (ii) compare two common cognitive assessment instrume...
journal_title:Acta neurologica Scandinavica
pub_type: 杂志文章
doi:10.1111/ane.12709
更新日期:2017-09-01 00:00:00
abstract:OBJECTIVES:The purpose of this study was to analyse the presence of the granulocyte-macrophage colony-stimulating factor (GM-CSF) in human cerebrospinal fluid (SF) of patients affected by multiple sclerosis (MS) in comparison with non-inflammatory neurological diseases. MATERIAL AND METHODS:All SFs were collected from...
journal_title:Acta neurologica Scandinavica
pub_type: 杂志文章
doi:10.1111/j.1600-0404.1999.tb00394.x
更新日期:1999-10-01 00:00:00
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
pub_type: 杂志文章
doi:10.1111/j.1600-0404.2008.01021.x
更新日期:2008-11-01 00:00:00
abstract::The concentrations of sulfur-containing amino acids (taurine, methionine, cystine, cystathionine, homocystine) in lumbar CSF from patients with consciousness disturbances and controls were measured, and it was investigated whether there was any correlation between the sequential changes of these amino acid concentrati...
journal_title:Acta neurologica Scandinavica
pub_type: 杂志文章
doi:10.1111/j.1600-0404.1983.tb04848.x
更新日期:1983-12-01 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:To study the effects of different colour imaging modes on the contrast-medium-enhanced image of the intracranial cerebral arteries. METHODS:Twelve healthy volunteers were studied transcranially after administration of 10 ml BY963 successively with Power Doppler (p-TCCS) and with colour Doppler frequency ima...
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.1600-0404.1997.tb00225.x
更新日期:1997-06-01 00:00:00
abstract:OBJECTIVES:We investigated cardiovascular and renin responses to head-up tilt tests in patients with Parkinson's disease (PD), multiple system atrophy (MSA), and in controls to determine variables for the assignment of parkinsonism to the potential underlying neurologic condition. PATIENTS AND METHODS:Sequential chang...
journal_title:Acta neurologica Scandinavica
pub_type: 杂志文章
doi:10.1111/j.1600-0404.1997.tb00270.x
更新日期:1997-10-01 00:00:00
abstract::Prognosticating the outcome of an unconscious patient continues to pose a serious challenge to the clinicians. BAERs are the latest addition to neurological diagnostic aids for predicting the outcome of coma. The relative value of BAERs in predicting the outcome of 15 comatosed meningoencephalitis patients has been st...
journal_title:Acta neurologica Scandinavica
pub_type: 杂志文章
doi:10.1111/j.1600-0404.1984.tb07795.x
更新日期:1984-03-01 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: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:In this study the frequency of inherited thrombophilic risk factors in a population of German CVT patients and their influence on clinical outcome were evaluated. MATERIAL AND METHODS:Twenty-five patients (age 37.1 +/- 16.3 years) with CVT were screened for inherited coagulation disorders. All participants ...
journal_title:Acta neurologica Scandinavica
pub_type: 杂志文章
doi:10.1034/j.1600-0404.2000.102001031.x
更新日期:2000-07-01 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
pub_type: 杂志文章
doi:10.1111/ane.12515
更新日期:2016-07-01 00:00:00
abstract:BACKGROUND:Anti-N-methyl-D-aspartate receptor (NMDAR) encephalitis is an autoimmune disorder of the central nervous system (CNS). Interleukin (IL)-6 and IL-17A may play important roles in the pathogenesis of this disease. High-mobility group box protein 1 (HMGB1), a small but highly conserved ubiquitous protein, is rec...
journal_title:Acta neurologica Scandinavica
pub_type: 杂志文章
doi:10.1111/ane.12850
更新日期:2018-02-01 00:00:00
abstract::We present clinical and virological data on 9 patients, 7 women and 2 men aged 31-56 years, with recurrent aseptic meningitis (Mollaret's meningitis). Polymerase chain reaction detected Herpes simplex virus type 2 DNA in cerebrospinal fluid samples from all patients collected during their latest attacks of meningitis....
journal_title:Acta neurologica Scandinavica
pub_type: 杂志文章
doi:10.1111/j.1600-0404.1998.tb07296.x
更新日期:1998-09-01 00:00:00
abstract:OBJECTIVES:To investigate the association between tumor necrosis factor-alpha (TNF-alpha) G-308A, tumor necrosis factor-beta (TNF-beta) G+252A and interleukin-4 (IL-4) C-590T polymorphisms and susceptibility to multiple sclerosis (MS) development and clinical course of the disease. MATERIALS AND METHODS:Two hundred an...
journal_title:Acta neurologica Scandinavica
pub_type: 杂志文章
doi:10.1111/j.1600-0404.2006.00743.x
更新日期:2007-03-01 00:00:00
abstract:OBJECTIVES:We showed previously that temporal low-voltage irregular delta waves (TLID) on EEG are indicative of cerebrovascular dysfunction in its early stages. The present study was designed to determine whether the incidence of this finding is elevated in diabetics as compared to normal controls. METHODS:EEGs of 50 ...
journal_title:Acta neurologica Scandinavica
pub_type: 杂志文章
doi:10.1111/j.1600-0404.1998.tb00618.x
更新日期:1998-02-01 00:00:00
abstract::Previously we have shown low levels of dystrophin immunoreactivity in muscle from patients with DMD. According to the "frame-shift hypothesis" DMD muscle should not synthesize any dystrophin through to the C-terminus and it has been suggested that the protein detected is not dystrophin, but a related autosomal homolog...
journal_title:Acta neurologica Scandinavica
pub_type: 杂志文章
doi:10.1111/j.1600-0404.1992.tb08046.x
更新日期:1992-07-01 00:00:00
abstract:OBJECTIVES:To determine if visual hallucinations in patients with Parkinson's disease are associated with an increased prevalence of white matter lesions. PATIENTS AND METHODS:Fifteen patients with (group 1) and 15 patients without (group 2) a history of visual hallucinations were studied. Both groups were matched for...
journal_title:Acta neurologica Scandinavica
pub_type: 杂志文章
doi:10.1111/j.1600-0404.1999.tb07365.x
更新日期:1999-06-01 00:00:00
abstract::Eighteen Swedish patients with familial amyloidotic polyneuropathy were tested for the met30 mutation of the transthyretin (TTR) (prealbumin) gene by RFLP analysis of genomic DNA using the restriction enzyme NsiI. The results confirmed previous findings that the Swedish variant of familial polyneuropathy has the same ...
journal_title:Acta neurologica Scandinavica
pub_type: 杂志文章
doi:10.1111/j.1600-0404.1993.tb04090.x
更新日期:1993-02-01 00:00:00
abstract::The alteration of amino acids in cerebrospinal fluids (CSF) from 14 cases of Parkinson's disease, five cases of cerebellar degeneration and five cases of headache (control) was studied using high performance liquid chromatography. In patients with Parkinson's disease, it was found that the CSF level of GABA showed a s...
journal_title:Acta neurologica Scandinavica
pub_type: 杂志文章
doi:10.1111/j.1600-0404.1986.tb03249.x
更新日期:1986-02-01 00:00:00
abstract::A headache disorder with shortlasting, frequently occurring (6-18/24 hours) head pain attacks is reported. The pain is excruciatingly severe, unilateral (always on the same side), unaccompanied by visual phenomena, nausea/vomiting, but accompanied by nasal congestion and lacrimation on the symptomatic side. The maximu...
journal_title:Acta neurologica Scandinavica
pub_type: 临床试验,杂志文章
doi:10.1111/j.1600-0404.1976.tb04788.x
更新日期:1976-08-01 00:00:00
abstract:BACKGROUND AND PURPOSE:Some previous studies reported an independent association between uric acid and coronary artery disease, while little is known on the association among uric acid and carotid artery disease (CAD). To address this issue, we investigated the association between CAD and higher uric acid level because...
journal_title:Acta neurologica Scandinavica
pub_type: 杂志文章
doi:10.1111/ane.12208
更新日期:2014-07-01 00:00:00
abstract:OBJECTIVES:A confident and accurate diagnosis of multiple sclerosis (MS) is important, but a specific diagnostic test for the disease does not exist. The traditional diagnostic criteria of Poser et al. were published in 1983, and recently, McDonald et al. recommended new criteria for the diagnosis of MS. PATIENTS AND ...
journal_title:Acta neurologica Scandinavica
pub_type: 杂志文章
doi:10.1111/j.1600-0404.2004.00246.x
更新日期:2004-06-01 00:00:00
abstract:OBJECTIVES:Studies demonstrating reduced quality of life and psychological well-being in multiple sclerosis (MS) have typically investigated patients within more advanced stages of disease. The aim of the present paper was to evaluate the emotional burden and quality of life of recently diagnosed MS patients and their ...
journal_title:Acta neurologica Scandinavica
pub_type: 杂志文章
doi:10.1034/j.1600-0404.2003.00166.x
更新日期:2003-12-01 00:00:00
abstract::Attempts were made to trace a possible retrovirus in multiple sclerosis (MS) by means of polymerase chain reaction. The primers derived from conserved sequences in the genome of human T cell leukemia/lymphoma virus type I (HTLV-I) and the amplifications were carried out at varying stringency conditions (i.a. annealing...
journal_title:Acta neurologica Scandinavica
pub_type: 杂志文章
doi:10.1111/j.1600-0404.1992.tb08060.x
更新日期:1992-07-01 00:00:00
abstract::The density and size of astrocyte-, oligodendrocyte-and neurone nuclei in corpus striatum were determined in rats with CCl4-induced liver encephalopathy by means of an electronic image analyzer. After 8 weeks of CCl4-administration, the astrocyte number had nearly doubled, and astrocytes with increased nuclear size qp...
journal_title:Acta neurologica Scandinavica
pub_type: 杂志文章
doi:
更新日期:1977-01-01 00:00:00
abstract::The phosphomannosyl receptor system is responsible for both the receptor-mediated endocytosis and the intracellular transport of lysosomal enzymes. In the present study this receptor system was examined in affected muscles of patients with various neuromuscular diseases. The total activity of beta-N-acetyl-glucosamini...
journal_title:Acta neurologica Scandinavica
pub_type: 杂志文章
doi:10.1111/j.1600-0404.1988.tb05941.x
更新日期:1988-06-01 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
pub_type: 杂志文章
doi:10.1111/j.1600-0404.1986.tb07866.x
更新日期:1986-12-01 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