Abstract：
:Multiple sclerosis (MS) is a chronic inflammatory, demyelinating, and neurodegenerative disease of the central nervous system (CNS) with a complex etiology. Given the Vitamin D receptor (VDR) gene, it is considered an outstanding risk component associated with MS. The aim of the present study has been to explore and emphasize the role of ApaI, BsmI, TaqI and FokI polymorphisms of VDR gene in susceptibility to MS in an Iranian case-control population including 160 patients and 150 healthy controls. All cases were clinically diagnosed with relapsing-remitting (RR) form, and the controls were age, gender, and race matched which were completely in agreement with the case group. PCR-R FLP was conducted for all the SNPs genotyping. The findings of the study showed a significant difference in allele frequency between the cases and controls for ApaI (p<0.0002), BsmI (p<0.0002) and TaqI (p<0.0001), while no significant difference was observed for FokI (P>0.0125). The results also showed that AA genotype polymorphism of ApaI and BsmI (OR=4.6 and OR=2.52, respectively), CC genotype of TaqI (OR=2.41) and AC genotype of ApaI (OR=1.79) are associated with the disease status. Nevertheless, the results revealed the protective role of TT genotype of TaqI (ORs<1), CC genotype of Apal, and GG genotype of BsmI (ORs<1). VDR polymorphisms seem to have a notable connection with MS pathogenesis, however, study of more big population and functional work on the gene structure and its function are recommended.
journal_name
J Neurol Scijournal_title
Journal of the neurological sciencesauthors
Abdollahzadeh R,Fard MS,Rahmani F,Moloudi K,Kalani BS,Azarnezhad Adoi
10.1016/j.jns.2016.05.053subject
Has Abstractpub_date
2016-08-15 00:00:00pages
148-51eissn
0022-510Xissn
1878-5883pii
S0022-510X(16)30322-7journal_volume
367pub_type
杂志文章abstract：PURPOSE:Paroxysmal kinesigenic dyskinesia (PKD) is a rare movement disorder. The underlying neural mechanisms have not been fully understood. This study aimed to examine the alteration of resting-state functional connectivity (RSFC) between interhemispheric homotopic regions in PKD using a technique called "voxel-mirro...
journal_title：Journal of the neurological sciences
pub_type： 杂志文章
doi：10.1016/j.jns.2015.02.046
更新日期：2015-04-15 00:00:00
abstract：BACKGROUND:Multiple sclerosis (MS) patients commonly suffer from fatigue and define it as one of their most disabling symptom profoundly disrupting their lives. However, the relationship of fatigue to cognitive functions and its impact on quality of life have not been widely studied. AIM:To define (1) "cognitive fatig...
journal_title：Journal of the neurological sciences
pub_type： 杂志文章
doi：10.1016/j.jns.2005.09.015
更新日期：2006-06-15 00:00:00
abstract：BACKGROUND:Dystonia is a neurological disorder characterized by involuntary twisting movements and postures. The neck is among the most commonly affected regions, and diagnosis can be made readily through a simple clinical evaluation. The goal of this study was to explore how long it took patients to receive a diagnosi...
journal_title：Journal of the neurological sciences
pub_type： 杂志文章
doi：10.1016/j.jns.2013.08.028
更新日期：2013-12-15 00:00:00
abstract：INTRODUCTION:This study assessed the Health Related Quality of Life (HRQOL) of individuals with Friedreich Ataxia (FRDA) through responses to HRQOL questionnaires. METHODS:The SF-36, a generic HRQOL instrument, and symptom specific scales examining vision, fatigue, pain and bladder function were administered to indivi...
journal_title：Journal of the neurological sciences
pub_type： 杂志文章
doi：10.1016/j.jns.2019.116642
更新日期：2020-03-15 00:00:00
abstract：:An experimental autoimmune myositis (EAM) was produced by immunizing SJL/J mice with the myosin B (MB) fraction of the syngeneic muscle. Immunoblot analysis of the IgG of the EAM mice demonstrated antibodies against a variety of muscle proteins. The condition was then transferred to normal mice by both injecting immun...
journal_title：Journal of the neurological sciences
pub_type： 杂志文章
doi：10.1016/s0022-510x(96)00223-7
更新日期：1996-12-01 00:00:00
abstract：OBJECTIVE:Cerebral gas embolism (CGE) is a potentially catastrophic complication of central venous catheters (CVCs) manipulation or accidental disconnection, which is rarely reported in the literature. This systematic review aims to characterize the clinical manifestations, imaging features and outcome of CGE associate...
journal_title：Journal of the neurological sciences
pub_type： 杂志文章,评审
doi：10.1016/j.jns.2016.01.043
更新日期：2016-03-15 00:00:00
abstract：:The objective of this article has been to describe the presence of a sensory neuronopathy in a patient harbouring ataxia with oculomotor apraxia type 2 (AOA2). A 40 year-old woman, born to consanguineous parents, presented with ataxia, decreased vibration sense, areflexia, indifferent plantar responses, preserved musc...
journal_title：Journal of the neurological sciences
pub_type： 杂志文章
doi：10.1016/j.jns.2010.09.004
更新日期：2010-11-15 00:00:00
abstract：:Opsoclonus-myoclonus syndrome (OMS) is characterized by opsoclonus and arrhythmic-action myoclonus that predominantly involves the trunk, limbs, and head. Human herpes virus-6 (HHV-6) can rarely cause encephalitis in immunocompetent children and adults. Here we report on a case of OMS associated with HHV-6 rhomboencep...
journal_title：Journal of the neurological sciences
pub_type： 杂志文章
doi：10.1016/j.jns.2014.04.013
更新日期：2014-06-15 00:00:00
abstract：:Antibodies against myelin oligodendrocyte glycoprotein (MOG) mediate demyelination in experimental autoimmune encephalomyelitis (EAE) in different animal species and are implicated in the immunopathogenesis of multiple sclerosis (MS). In order to evaluate the anti-MOG response, we have analyzed the cerebrospinal fluid...
journal_title：Journal of the neurological sciences
pub_type： 杂志文章
doi：10.1016/s0022-510x(03)00066-2
更新日期：2003-07-15 00:00:00
abstract：:The relapsing-remitting phase and the progressive phase of multiple sclerosis (MS) seem to be the result of distinct pathophysiological processes. Previous research on the natural history of MS was largely focussed on relapses and disability scores. In this study we evaluated 438 patients with secondary or primary pro...
journal_title：Journal of the neurological sciences
pub_type： 杂志文章
doi：10.1016/j.jns.2007.01.067
更新日期：2007-04-15 00:00:00
abstract：BACKGROUND:A specific non-motor impairment in Parkinson's disease (PD) concerns difficulties to accurately identify facial emotions. Findings are numerous but very inconsistent, ranging from general discrimination deficits to problems for specific emotions up to no impairment at all. By contrast, only a few studies exi...
journal_title：Journal of the neurological sciences
pub_type： 杂志文章
doi：10.1016/j.jns.2015.12.007
更新日期：2016-02-15 00:00:00
abstract：INTRODUCTION:Age of onset modifiers are of considerable importance in Alzheimer's and related dementias. Arboleda-Valesquez et al., reporting on a single PSEN1 subject, suggested that homozygosity for the Christchurch variant of APOE could represent such a modifier. METHODS:We studied APOE Christchurch and Kloth-VS ge...
journal_title：Journal of the neurological sciences
pub_type： 杂志文章
doi：10.1016/j.jns.2020.117143
更新日期：2020-11-15 00:00:00
abstract：INTRODUCTION:Recognition of psychiatric manifestations of Wilson's disease (WD) has diagnostic and therapeutic implications. OBJECTIVE:To describe the clinical features and psychopathology of patients with WD who had initial or predominant psychiatric manifestations. PATIENT AND METHODS:Records of 15 patients with WD...
journal_title：Journal of the neurological sciences
pub_type： 杂志文章
doi：10.1016/j.jns.2007.09.009
更新日期：2008-03-15 00:00:00
abstract：BACKGROUND:Intracerebral hemorrhage (ICH) growth is an important independent predictor of clinical deterioration and outcome. Little is known about the association between etiology of ICH and occurrence of hematoma expansion (HE). The aim of the present study was to assess whether ICH etiologic subtype may influence th...
journal_title：Journal of the neurological sciences
pub_type： 杂志文章
doi：10.1016/j.jns.2015.11.024
更新日期：2015-12-15 00:00:00
abstract：:Severe weakness of lower cranial and girdle muscles has been found in 4 subjects among 20 dialysis patients treated with carnitine in order to correct their high plasma triglyceride level. Neurophysiological investigation showed an impairment of neuromuscular transmission with short-term reduction of evoked muscle res...
journal_title：Journal of the neurological sciences
pub_type： 杂志文章
doi：10.1016/0022-510x(80)90061-1
更新日期：1980-06-01 00:00:00
abstract：:The extraction and purification of glial fibrillary acidic protein (GFAP) from human fibrillary cerebellar astrocytoma is described. Using an immunoperoxidase method, antisera raised to the protein showed specific staining of astrocytes in normal spinal cord and in tumours of astrocytic origin. A double antibody radio...
journal_title：Journal of the neurological sciences
pub_type： 杂志文章
doi：10.1016/0022-510x(79)90144-8
更新日期：1979-03-01 00:00:00
abstract：:In order to determine if free (F) and bound (B) levels of autoantibodies to myelin basic protein (anti-MBP) are present from the onset of multiple sclerosis (MS), 201 patients referred to our clinic were clinically divided into a group diagnosed as having an initial MS relapse and a group of non-MS controls. Ninety-fo...
journal_title：Journal of the neurological sciences
pub_type： 杂志文章
doi：10.1016/0022-510x(89)90083-x
更新日期：1989-06-01 00:00:00
abstract：BACKGROUND:We recently reported that left versus right hemisphere cerebral infarctions patients more frequently have worse outcomes. However our clinical experience led us to suspect that the incidence of malignant middle cerebral artery infarctions (MMCA) was higher in the right compared to the left hemispheric stroke...
journal_title：Journal of the neurological sciences
pub_type： 杂志文章,评审
doi：10.1016/j.jns.2015.04.036
更新日期：2015-01-01 00:00:00
abstract：:With an Italian case series of 81 Italian patients and 130 controls, we analysed associations between myasthenia gravis (MG) and genetic polymorphisms in the MHC class II/III region. Increases in the frequency of the TNF-B*1, C4A*Q0, C4B*1, DRB1*03 supratype, which is likely part of the 8.1 ancestral haplotype, were m...
journal_title：Journal of the neurological sciences
pub_type： 杂志文章
doi：10.1016/s0022-510x(01)00573-1
更新日期：2001-09-15 00:00:00
abstract：:Fatiguability is a determining characteristic of different muscle fibre types. An important aspect, indirectly related to fatiguability, gluconeogenesis, was investigated by observing fructose-1,6-diphosphatase (FDP) activity in experimental models prepared in rabbits by cross-reinnervation of the fatigue-resistant m....
journal_title：Journal of the neurological sciences
pub_type： 杂志文章
doi：10.1016/0022-510x(76)90250-1
更新日期：1976-11-01 00:00:00
abstract：:Long-term fluctuations of the heart rate have an important prognostic impact after myocardial infarction, in patients with chronic heart failure and even in elderly subjects. Autonomic dysfunction is a common complication in patients with Guillain-Barré syndrome, and particularly vagally-mediated bradyarrhythmias requ...
journal_title：Journal of the neurological sciences
pub_type： 临床试验,杂志文章
doi：10.1016/s0022-510x(99)00096-9
更新日期：1999-06-01 00:00:00
abstract：BACKGROUND:Although adoption of new clinical criteria for dementia with Lewy bodies (DLB) leads to an increase in the proportion of patients diagnosed with probable DLB, the sensitivity of clinical diagnostic criteria of DLB is low, and there are no generally accepted clinical or imaging biomarkers to distinguish DLB f...
journal_title：Journal of the neurological sciences
pub_type： 杂志文章
doi：10.1016/j.jns.2015.07.025
更新日期：2015-10-15 00:00:00
abstract：:The author describe 2 personal observations of peripheral neuropathy with cryoglobulinemia and the 28 cases previously recorded are reviewed. The characteristics of the usually sensorimotor neuropathy are not specific. Nevertheless, the association with purpura, Raynaud's syndrome and leg ulcers and the inconstant agg...
journal_title：Journal of the neurological sciences
pub_type： 杂志文章
doi：10.1016/0022-510x(78)90005-9
更新日期：1978-02-01 00:00:00
abstract：:Increased resistance to ischemic nerve conduction failure (RINCF) has been demonstrated in the spontaneously diabetic BB Wistar rat as well as in non-insulin dependent but hyperglycemic litter-mates. There is marked variability in the severity of the ischemic resistance in insulin dependent rats but not in the non-ins...
journal_title：Journal of the neurological sciences
pub_type： 杂志文章
doi：10.1016/0022-510x(89)90161-5
更新日期：1989-10-01 00:00:00
abstract：OBJECTIVES:To examine whether quantitative analysis of the brainstem areas on magnetic resonance imaging (MRI) scans is useful for diagnosis as well as evaluation of disease activity in chronic progressive neuro-Behçet's disease (CPNB). METHODS:MRI scans in patients with acute neuro-Behçet's disease (ANB) (n = 10), CP...
journal_title：Journal of the neurological sciences
pub_type： 杂志文章
doi：10.1016/j.jns.2013.11.020
更新日期：2014-02-15 00:00:00
abstract：:The effect of intravenous infusion of progesterone and Mebumal (ACO, Sweden; penotobarbital, INN) on the frequency and amplitude of the spontaneous interictal spikes from a penicillin focus in the cerebral cortex was investigated in ovariectomized cats anaesthetized with chloralose. The plasma concentration of progest...
journal_title：Journal of the neurological sciences
pub_type： 杂志文章
doi：10.1016/0022-510x(78)90166-1
更新日期：1978-03-01 00:00:00
abstract：:Cases of adult-onset idiopathic motor neuron disease (MND) identified from January 1970 through December 1986 were studied in a defined area of California. The patients were followed prospectively throughout the illness in 99% of cases. Among 708 cases aged 25-74 years at onset, the most common type (86%) was typical,...
journal_title：Journal of the neurological sciences
pub_type： 杂志文章
doi：10.1016/0022-510x(93)90245-t
更新日期：1993-08-01 00:00:00
abstract：BACKGROUND:Headache burden is not adequately explored in Africa. Here, we measured weighted migraine prevalence from community-based studies in Africa. METHODS:PubMed search was employed using terms 'headache in Africa' AND/OR 'migraine in Africa' for published literature from 1970 until January 31, 2014. PRISMA was a...
journal_title：Journal of the neurological sciences
pub_type： 杂志文章,meta分析,评审
doi：10.1016/j.jns.2014.04.019
更新日期：2014-07-15 00:00:00
abstract：:Formation of protein aggregation is considered a hallmark feature of various neurological diseases. Amyotrophic lateral sclerosis is one such devastating neurodegenerative disorder characterized by mutation in Cu/Zn superoxide dismutase protein (SOD1). In our study, we contemplated the most aggregated and pathogenic m...
journal_title：Journal of the neurological sciences
pub_type： 杂志文章
doi：10.1016/j.jns.2019.116425
更新日期：2019-10-15 00:00:00
abstract：:The purpose of the investigation was to elucidate the repeatedly discussed relationship between chronic lead intoxication and ALS. The following mean lead concentrations were determined in 9 patients with ALS: 8.65 +/- 3,91 micrograms/100 ml in the blood, 0.97 +/- 0.78 microgram/100 ml in the plasma, 19.15 +/- 5.0 mic...
journal_title：Journal of the neurological sciences
pub_type： 杂志文章
doi：10.1016/0022-510x(83)90051-5
更新日期：1983-09-01 00:00:00
