Abstract:
:We examined the influence of alleles at the HLA loci, previously found to be associated with multiple sclerosis (MS) in Sardinia, on the clinical course of the disease in 835 relapsing (R) and 100 primary progressive (PP) patients. Multivariate analysis was carried out on predisposing 0301 or non-associated DPB1 alleles, susceptible or non-associated DRB1-DQB1 haplotypes, both predisposing and non-predisposing, and negatively and non-negatively associated D6S1683 alleles, taking interaction between them into account. Intra-patient analysis showed that the presence of the susceptible or protective D6S1683 allele interacting with predisposing DP 0301 modulated risk of PP disease. These findings suggest that a locus telomeric to HLA class I exerts an effect on alleles at the DPB1 locus in modulating disease course.
journal_name
J Neuroljournal_title
Journal of neurologyauthors
Marrosu MG,Cocco E,Costa G,Murru MR,Mancosu C,Murru R,Lai M,Sardu C,Contu Pdoi
10.1007/s00415-005-0957-ykeywords:
subject
Has Abstractpub_date
2006-02-01 00:00:00pages
208-13issue
2eissn
0340-5354issn
1432-1459journal_volume
253pub_type
杂志文章abstract::An IgM antibody cytotoxic to normal human lymphocytes was found in 46.2% (male: 61.5%; female: 30.8%) of sera from chronic schizophrenics by means of a complement-dependent cytotoxicity test. The relationship between this antibody and the immunological manifestations of schizophrenia is discussed. ...
journal_title:Journal of neurology
pub_type: 杂志文章
doi:10.1007/BF00314296
更新日期:1987-06-01 00:00:00
abstract::Two unusual cases of cerebral toxoplasmosis in AIDS patients are presented. Two homosexual males aged 33 and 52 years in CDC stage IV C1 complained of memory loss during the past 6 months, as well as weight loss and mild fever. They showed severe intellectual deterioration and discrete basal ganglia dysfunction. Motor...
journal_title:Journal of neurology
pub_type: 杂志文章
doi:10.1007/BF00314650
更新日期:1991-12-01 00:00:00
abstract::The MS-ID (Multiple Sclerosis Information Dividend) project was initiated by the European Multiple Sclerosis Platform (EMSP) in 2007 in order to identify and address major inequalities of MS treatment and care and thus eliminate disparities across the EU. One major approach to reach these goals in the longer term is t...
journal_title:Journal of neurology
pub_type: 杂志文章,评审
doi:10.1007/s00415-010-5578-4
更新日期:2010-10-01 00:00:00
abstract:BACKGROUND:Multiple sclerosis (MS) notably affects adults of working age. For persons with MS (PwMS), being employed enhances their quality of life and it may be regarded as an indicator of overall functioning. Thus, ensuring work participation in PwMS is of general public health interest. OBJECTIVE:To examine relevan...
journal_title:Journal of neurology
pub_type: 杂志文章
doi:10.1007/s00415-020-09973-3
更新日期:2020-10-01 00:00:00
abstract::The phase III, multicenter, randomized, placebo-controlled PreCISe trial assessed glatiramer acetate (GA) effects in patients with clinically isolated syndromes (CIS) suggestive of multiple sclerosis (MS). To assess the neuroprotective effect of GA in a subset of patients in the PreCISe trial, we used proton magnetic ...
journal_title:Journal of neurology
pub_type: 杂志文章,多中心研究,随机对照试验
doi:10.1007/s00415-013-6903-5
更新日期:2013-07-01 00:00:00
abstract::A clinical and electrophological study was performed on 30 patients with chronic carbon disulphide poisoning. Although the measurements of motor conduction velocity and of terminal latency were within the normal range in the subclinical stage, estimation of nerve excitability threshold showed distal motor hypoexcitabi...
journal_title:Journal of neurology
pub_type: 杂志文章
doi:10.1007/BF00313208
更新日期:1980-01-01 00:00:00
abstract::The seasonal occurrence of relapses was analysed retrospectively in a group of 53 patients with treated dermatomyositis (DM) or polymyositis (PM). In DM, the incidence of both myositic and cutaneous relapses was highest in summer whereas in the PM group relapses was more evenly distributed throughout the seasons but l...
journal_title:Journal of neurology
pub_type: 杂志文章
doi:10.1007/s004150200036
更新日期:2002-04-01 00:00:00
abstract::Bcl2-associated athanogene 3 (BAG3) gene mutations cause dilated cardiomyopathy and myofibrillar myopathy. Recently, a novel c.625C>T (p.Pro209Ser) mutation in BAG3 was reported to cause axonal Charcot-Marie-Tooth (CMT) disease in three families. Here, we describe two patients with adult-onset and moderate CMT in a Ch...
journal_title:Journal of neurology
pub_type: 杂志文章
doi:10.1007/s00415-019-09680-8
更新日期:2020-04-01 00:00:00
abstract:BACKGROUND:Thymoma is frequently associated with paraneoplastic diseases (PDs), most commonly with myasthenia gravis (MG). This association is thought to depend on thymoma's capacity to produce and export T lymphocytes. OBJECTIVE:(1) To determine the frequency and characteristics of thymoma-associated PDs other than M...
journal_title:Journal of neurology
pub_type: 杂志文章
doi:10.1007/s00415-006-0429-z
更新日期:2007-06-01 00:00:00
abstract::The mechanism underlying the motor fluctuations that develop after long-term L-dopa therapy is not fully known. It has been speculated that malabsorption of L-dopa from the small intestine occurs. It was reported that gastric retention in Parkinson's disease (PD) patients with motor fluctuations is increased as compar...
journal_title:Journal of neurology
pub_type: 杂志文章
doi:10.1007/s00415-009-5220-5
更新日期:2009-12-01 00:00:00
abstract:BACKGROUND:Diagnostic delay of hereditary transthyretin amyloidosis (ATTRv, v for variant) prevents timely treatment and, therefore, concurs to the mortality of the disease. The aim of the present study was to explore with nerve ultrasound (US) possible red flags for early diagnosis in ATTRv patients with carpal tunnel...
journal_title:Journal of neurology
pub_type: 杂志文章
doi:10.1007/s00415-020-10127-8
更新日期:2021-01-01 00:00:00
abstract::In order to identify the precise location of the primary motor area for the diaphragm with respect to the classical motor homunculus, functional magnetic resonance imaging (fMRI) experiments were performed utilizing independent component-cross correlation- sequential epoch (ICS) analysis on a high-field (3.0 Tesla) sy...
journal_title:Journal of neurology
pub_type: 杂志文章
doi:10.1007/s00415-004-0413-4
更新日期:2004-06-01 00:00:00
abstract::A patient with an infarct limited to the paramedian thalamus and upper mesencephalon on the right side suffered a conjugate upgaze palsy associated with a monocular paresis of downward gaze in the ipsilateral eye (vertical "one-and-a-half" syndrome). This paresis involved tonic and phasic components. Vertical oculocep...
journal_title:Journal of neurology
pub_type: 杂志文章
doi:10.1007/BF00313651
更新日期:1984-01-01 00:00:00
abstract:OBJECTIVE:The variability of the severity and regional distribution of pathological process in basal ganglia (BG) and brainstem-cerebellar systems results in clinical heterogeneity and represents the motor subtype of multiple system atrophy (MSA). This study aimed to quantify spatial patterns of multimodal MRI abnormal...
journal_title:Journal of neurology
pub_type: 杂志文章
doi:10.1007/s00415-018-8874-z
更新日期:2018-07-01 00:00:00
abstract::Parkinson's disease (PD) is the most common neurodegenerative movement disorder. Recent advances in genetics and pathophysiology have led to new insights into the pathogenesis of PD. Ten loci have been linked to hereditary PD. Mutations in alpha-synuclein and ubiquitin carboxy hydrolase L1 (UchL1) cause autosomal domi...
journal_title:Journal of neurology
pub_type: 杂志文章,评审
doi:10.1007/s00415-003-1304-9
更新日期:2003-10-01 00:00:00
abstract::Cognitive deficits mainly involving visuospatial functions have been defined in patients with bilateral and even unilateral vestibular loss (UVL). We compared the cognitive test results of 21 patients with acute UVL with age- and education-matched healthy controls. The diagnosis of UVL was based on the clinical findin...
journal_title:Journal of neurology
pub_type: 杂志文章
doi:10.1007/s00415-020-09829-w
更新日期:2020-12-01 00:00:00
abstract::Central nervous system localizations of sarcoidosis may be refractory to conventional treatment such as steroids and immunosuppressive drugs. Infliximab, a TNF-α antagonist chimeric antibody, has been shown to be effective for treatment of these localizations. The aim of this study was to evaluate the efficacy and saf...
journal_title:Journal of neurology
pub_type: 杂志文章
doi:10.1007/s00415-017-8444-9
更新日期:2017-05-01 00:00:00
abstract::To define the incidence and type of neurological complications and associated factors, we reviewed 41 consecutive patients who had 45 procedures for liver transplantation. Encephalopathy occurred after 28 procedures (62%) with immediate onset and no significant recovery before death or re-transplantation in 11 (24%), ...
journal_title:Journal of neurology
pub_type: 临床试验,杂志文章
doi:10.1007/s004150170023
更新日期:2001-12-01 00:00:00
abstract::Neurological complications in the acquired immunodeficiency syndrome (AIDS) are an important aspect of this new infectious disease and occur frequently. The existence of neurotropic variants of the human immunodeficiency virus (HIV), the causative agent of AIDS, is probable. Direct infection of the nervous system with...
journal_title:Journal of neurology
pub_type: 杂志文章,评审
doi:10.1007/BF00314279
更新日期:1987-06-01 00:00:00
abstract::Recently, a frequent prion protein gene (PRNP) polymorphism consisting of a methionine (M) for valine (V) substitution at codon 129 has been associated with cognitive impairment in elderly individuals. Down syndrome (DS) is associated with mental retardation and development of Alzheimer-like brain abnormalities. In th...
journal_title:Journal of neurology
pub_type: 杂志文章
doi:10.1007/s00415-003-1057-5
更新日期:2003-06-01 00:00:00
abstract::The aim of the study was to identify the main factors that impact mobility impairment in multiple sclerosis (MS) patients in Italy. Clinicians from a large number of Italian MS centers took part in a Delphi process aimed at obtaining consensus statements among the participants. Large consensus was obtained for stateme...
journal_title:Journal of neurology
pub_type: 杂志文章
doi:10.1007/s00415-013-7230-6
更新日期:2014-03-01 00:00:00
abstract:BACKGROUND AND AIMS:Due to common pathophysiological findings of Alzheimer's disease (AD) with diabetes mellitus (DM), insulin has been suggested as a possible treatment of AD or mild cognitive impairment (MCI). A safe alternative of IV insulin is intranasal (IN) insulin. The aim of this systematic review is to investi...
journal_title:Journal of neurology
pub_type: 杂志文章,meta分析,评审
doi:10.1007/s00415-018-8768-0
更新日期:2018-07-01 00:00:00
abstract::Amyloid positron emission tomography ([18F] florbetaben (FBB) PET) can be used to determine concomitant Alzheimer's disease (AD) in idiopathic normal pressure hydrocephalus (iNPH) patients. FBB PET scans and the tap test were performed in 31 patients with clinically suspected iNPH, and amyloid positive (iNPH/FBB+) and...
journal_title:Journal of neurology
pub_type: 杂志文章
doi:10.1007/s00415-017-8650-5
更新日期:2018-01-01 00:00:00
abstract:BACKGROUND:Volume loss in the deep gray matter (DGM) has been reported in patients with multiple sclerosis (MS) already at early stages of the disease and is thought to progress throughout the disease course. OBJECTIVE:To investigate the impact and predictive value of volume loss in DGM and thalamic subnuclei on disab...
journal_title:Journal of neurology
pub_type: 杂志文章
doi:10.1007/s00415-020-09740-4
更新日期:2020-05-01 00:00:00
abstract::In fibromyalgia (FM), reduced habituation of laser-evoked potentials (LEPs) suggests a dysfunction of pain processing at a central level. In this study, we aimed to further examine the nociceptive pathways at the peripheral to the central level in a large group of FM patients by means of LEPs and skin biopsy, in light...
journal_title:Journal of neurology
pub_type: 杂志文章
doi:10.1007/s00415-013-7211-9
更新日期:2014-03-01 00:00:00
abstract:OBJECTIVE:Patients with classic ataxia-telangiectasia (A-T) generally die in the second or third decade of life. Clinical descriptions of A-T tend to focus on the symptoms at presentation. However, during the course of the disease, other symptoms and complications emerge. As long-term survivors with classic A-T develop...
journal_title:Journal of neurology
pub_type: 杂志文章
doi:10.1007/s00415-019-09641-1
更新日期:2020-03-01 00:00:00
abstract::Levodopa therapy is essential for patients in the advanced stages of Parkinson's disease. However, at early stages, DA agonist therapy has similar efficacy in the treatment of parkinsonism and a lower incidence of motor complications compared to levodopa therapy several years after the initiation of the therapy. The m...
journal_title:Journal of neurology
pub_type: 杂志文章,评审
doi:10.1007/s00415-002-1205-3
更新日期:2002-09-01 00:00:00
abstract::Natalizumab (TYSABRI(®)), a specific α4-integrin antagonist, is approved as a second-line treatment of relapsing-remitting MS (RRMS) patients who fail therapy with interferons or as first-line treatment of patients with highly active relapsing-remitting disease. Since the market introduction of natalizumab as a monoth...
journal_title:Journal of neurology
pub_type: 杂志文章,评审
doi:10.1007/s00415-011-6116-8
更新日期:2011-11-01 00:00:00
abstract::Acquired copper deficiency has been recognised as a rare cause of anaemia and neutropenia for over half a century. Copper deficiency myelopathy (CDM) was only described within the last decade, and represents a treatable cause of non-compressive myelopathy which closely mimics subacute combined degeneration due to vita...
journal_title:Journal of neurology
pub_type: 杂志文章,评审
doi:10.1007/s00415-010-5511-x
更新日期:2010-06-01 00:00:00
abstract::This study aimed at identifying gender-specific differences in stroke knowledge, stroke risk perception and the educational effects of a multimodal educational intervention. We performed computer-assisted telephone surveys among an average sample of 500 members of the general public (44.0% male, 56.0% female), before ...
journal_title:Journal of neurology
pub_type: 杂志文章
doi:10.1007/s00415-009-5326-9
更新日期:2010-03-01 00:00:00