Abstract:
:Recent reports suggest the possible beneficial effects of haemopoietic stem cell transplantation (HSCT) in autoimmune diseases such as multiple sclerosis (MS). The definition of the risk/benefit ratio for such a treatment is perceived as a major issue for the neurological community worldwide. The First Consensus Conference on Bone Marrow Transplantation in Patients with Multiple Sclerosis was held in Milan, Italy on 21 February 1998. Participants from 16 European, North American, and South American countries discussed the guidelines for performing HSCT in MS. This conference was organized in order to: (a) define criteria for patient selection; (b) define transplantation procedures to maximize efficacy of the treatment and minimize its toxicity; (c) standardize patient outcome evaluation; and (d) establish an international working group to evaluate the efficacy and safety of HSCT in MS and to study the immunological changes related to HSCT in MS patients. During the meeting in Milan agreement was reached on: (a) the preparation and distribution of a consensus report on HSCT in MS and (b) the design of an open trial for an initial assessment of the safety and efficacy of HSCT in MS. The consensus reached during the meeting and the design of the clinical trial are summarized in this contribution.
journal_name
J Neuroljournal_title
Journal of neurologyauthors
Comi G,Kappos L,Clanet M,Ebers G,Fassas A,Fazekas F,Filippi M,Hartung HP,Hertenstein B,Karussis D,Martino G,Tyndall A,van der Meché FGdoi
10.1007/s004150050605keywords:
subject
Has Abstractpub_date
2000-05-01 00:00:00pages
376-82issue
5eissn
0340-5354issn
1432-1459journal_volume
247pub_type
指南,杂志文章,实务指引abstract::Normal pressure hydrocephalus (NPH) is characterised by gait disturbance, urinary incontinence and dementia. Even though dementia is a cardinal symptom of NPH, there is few data available concerning cognitive functioning. The aim of this observational case-control study was to evaluate the use of neuropsychological (N...
journal_title:Journal of neurology
pub_type: 杂志文章
doi:10.1007/s00415-014-7489-2
更新日期:2014-12-01 00:00:00
abstract::We have studied the relationship between the apolipoprotein E gene (APOE) and the development of myoclonus, tremors, rigidity and seizures in 168 patients with probable early-onset Alzheimer's disease (AD). There was a statistically significantly lower risk of tremor for carriers of the epsilon 4 allele of APOE. This ...
journal_title:Journal of neurology
pub_type: 杂志文章
doi:10.1007/BF00900501
更新日期:1996-06-01 00:00:00
abstract::In a fatal case of neuroleptic malignant syndrome, a muscle sample taken within 1 h of death showed acute myopathic features with absence of muscle glycogen and neutral lipid. These features suggest that hyperpyrexia in this syndrome may be caused by heat production from uncoupled phosphorylation in muscle and imply t...
journal_title:Journal of neurology
pub_type: 杂志文章
doi:10.1007/BF00718024
更新日期:1987-12-01 00:00:00
abstract::Specific mutations in COL6A3 have recently been reported as the cause of isolated recessive dystonia, which is a rare movement disorder. In all patients, at least one mutation was located in Exons 41 and 42. In an attempt to replicate these findings, we assessed by direct sequencing the frequency of rare variants in E...
journal_title:Journal of neurology
pub_type: 杂志文章
doi:10.1007/s00415-016-8046-y
更新日期:2016-04-01 00:00:00
abstract::Unlike most neurodegenerative disorders, individuals at risk from Huntington's disease can be identified prior to the onset of clinical signs of the disease by virtue of it being an autosomal dominant condition. This provides the hypothetical opportunity to delay disease onset and/or slow down the progression of the d...
journal_title:Journal of neurology
pub_type: 杂志文章,评审
doi:10.1007/s00415-015-7700-0
更新日期:2015-08-01 00:00:00
abstract::During the last few years, deep brain stimulation (DBS) of the subthalamic nucleus (STN) has emerged as a promising therapy, alleviating major motor symptoms of Parkinson's disease (PD). However, in times of growing budgetary limitations, medical decisions are no longer merely based on clinical efficacy, but also on c...
journal_title:Journal of neurology
pub_type: 杂志文章
doi:10.1007/s00415-005-0640-3
更新日期:2005-02-01 00:00:00
abstract::Despite ongoing improvements in the acute treatment of cerebrovascular diseases and organization of stroke services, many stroke survivors are in need of neurorehabilitation, as more than two-thirds show persisting neurologic deficits. While early elements of neurorehabilitation are already taking place on the stroke ...
journal_title:Journal of neurology
pub_type: 杂志文章,评审
doi:10.1007/s00415-011-6247-y
更新日期:2012-05-01 00:00:00
abstract::Eighteen patients with dural arteriovenous fistulas or intradural arteriovenous malformations underwent clinical and neurophysiological examination. Bladder disturbances, pain, sensory abnormalities and involvement of both upper and lower motor neurons were commonly observed. Abnormal findings were obtained both in el...
journal_title:Journal of neurology
pub_type: 杂志文章
doi:10.1007/BF00878524
更新日期:1996-01-01 00:00:00
abstract::We assessed the prevalence of vertebral artery (VA) stenosis or occlusion and its influence on outcome in patients with acute basilar artery occlusion (BAO). We studied 141 patients with acute BAO enrolled in the Basilar Artery International Cooperation Study (BASICS) registry of whom baseline CT angiography (CTA) of ...
journal_title:Journal of neurology
pub_type: 杂志文章
doi:10.1007/s00415-014-7583-5
更新日期:2015-02-01 00:00:00
abstract::Long-term treatment studies with any antiparkinsonian drug are rather limited. Especially, double-blind, randomized and multicenter studies do not exist except for some rare exceptions. Nonetheless, such studies are mandatory to prove certain therapy regimens. This overview reports on the comparison between dopamine a...
journal_title:Journal of neurology
pub_type: 杂志文章,评审
doi:10.1007/pl00007768
更新日期:2000-09-01 00:00:00
abstract::Alemtuzumab is an anti-CD52 monoclonal antibody recently licensed for use in relapsing-remitting multiple sclerosis. Here, we report our experience of its use in neuromyelitis optica (NMO) spectrum disorders. A retrospective case review of patients treated with alemtuzumab in Cambridge, UK, was conducted to identify t...
journal_title:Journal of neurology
pub_type: 杂志文章
doi:10.1007/s00415-015-7925-y
更新日期:2016-01-01 00:00:00
abstract::As there are scarce data regarding the outcomes of acute ischemic stroke (AIS) patients treated with intravenous thrombolysis (IVT) within 60 min from symptom onset ("golden hour"), we sought to compare outcomes between AIS patients treated within [GH(+)] and outside [GH(-)] the "golden hour" by analyzing propensity s...
journal_title:Journal of neurology
pub_type: 杂志文章
doi:10.1007/s00415-017-8461-8
更新日期:2017-05-01 00:00:00
abstract::Discontinuation of natalizumab can lead to severe rebound of disease activity in patients with relapsing-remitting multiple sclerosis (RRMS); nevertheless, the treatment regimen in this clinical situation remains controversial. We report the case of a 25-year-old male patient with RRMS who was clinically stable under ...
journal_title:Journal of neurology
pub_type: 杂志文章
doi:10.1007/s00415-017-8622-9
更新日期:2017-12-01 00:00:00
abstract::Thirty-five patients with intraventricular haemorrhage shown by CT underwent cerebral arteriography. In 15 patients arteriography showed an occlusion of a carotid or middle cerebral artery. Secondary bleeding into an infarction caused the intraventricular haemorrhage. All 15 patients were aged over 40 years. ...
journal_title:Journal of neurology
pub_type: 杂志文章
doi:10.1007/BF00313641
更新日期:1983-01-01 00:00:00
abstract:OBJECTIVES:Evidences from either small series or spontaneous reporting are accumulating that SARS-CoV-2 involves the Nervous Systems. The aim of this study is to provide an extensive overview on the major neurological complications in a large cohort of COVID-19 patients. METHODS:Retrospective, observational analysis o...
journal_title:Journal of neurology
pub_type: 杂志文章
doi:10.1007/s00415-020-10251-5
更新日期:2020-10-07 00:00:00
abstract::Facioscapulohumeral muscular dystrophy (FSHD) is the third most common muscular dystrophy and usually follows an autosomal dominant trait. Clinically, FSHD affects facial muscles and proximal upper limb and girdle muscles, but may present with variable clinical phenotypes even within the same family. Most genetically ...
journal_title:Journal of neurology
pub_type: 杂志文章
doi:10.1007/s00415-010-5471-1
更新日期:2010-07-01 00:00:00
abstract:BACKGROUND AND PURPOSE:Protein Z (PZ), a vitamin Kdependent protein, plays a role in inhibiting coagulation. Its plasma level or PZ gene polymorphisms have been discussed as risk factors for stroke with conflicting results reported between various studies. Only one of these polymorphisms was studied in a cohort of pati...
journal_title:Journal of neurology
pub_type: 杂志文章
doi:10.1007/s00415-008-0958-8
更新日期:2008-10-01 00:00:00
abstract::The spinocerebellar ataxias (SCAs) with autosomal dominant inheritance are a clinically and genetically heterogeneous group of neurological disorders with overlapping as well as highly variable phenotypes primarily affecting the cerebellum. To date, 28 different loci have been identified. Nine SCAs are caused by repea...
journal_title:Journal of neurology
pub_type: 杂志文章
doi:10.1007/s00415-009-5209-0
更新日期:2009-11-01 00:00:00
abstract::Leukoencephalopathy with brainstem and spinal cord involvement and elevated lactate (LBSL) is a rare, autosomal recessive disorder caused by mutations in the gene encoding a mitochondrial aspartyl-tRNA synthetase, DARS2. The disease is characterized by progressive spastic ataxia and magnetic resonance imaging (MRI) sh...
journal_title:Journal of neurology
pub_type: 杂志文章
doi:10.1007/s00415-011-6176-9
更新日期:2012-02-01 00:00:00
abstract::Movement-associated cortical potentials (MP) associated with thumb-opposition or fist-clenching were studied in 20 patients with unilateral cerebral lesions and in 8 healthy subjects. MP was abnormal in 16 patients. The most frequent abnormality was an attenuation of the N component or readiness potential, recorded on...
journal_title:Journal of neurology
pub_type: 杂志文章
doi:10.1007/BF00312541
更新日期:1975-07-02 00:00:00
abstract::A rare form of plasma cell dyscrasia characterized by associated polyneuropathy, organomegaly, endocrinopathy, M protein and skin changes has been termed the POEMS syndrome. The pathophysiology is unknown; plasma cell dyscrasia is essential; secondary manifestations are unexplained. We report a 67-year-old man with a ...
journal_title:Journal of neurology
pub_type: 杂志文章
doi:10.1007/BF00839213
更新日期:1992-01-01 00:00:00
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 allel...
journal_title:Journal of neurology
pub_type: 杂志文章
doi:10.1007/s00415-005-0957-y
更新日期:2006-02-01 00:00:00
abstract::Autonomic nervous system (ANS) involvement is frequently found in Parkinson's disease (PD), but its causal relationship to the disease itself and its medication is unclear. We evaluated the effects of PD medications on cardiovascular ANS functions. Heart rate (HR) responses to normal and deep breathing, the Valsalva m...
journal_title:Journal of neurology
pub_type: 临床试验,杂志文章,随机对照试验
doi:10.1007/s004150070075
更新日期:2000-11-01 00:00:00
abstract::We wanted to determine the neurocognitive profile of adult patients with moyamoya disease prior to neurosurgical intervention. The experience of three United States medical centers, Columbia University, University of Illinois at Chicago, and the University of Texas Southwestern Medical Center at Dallas, were combined....
journal_title:Journal of neurology
pub_type: 杂志文章,多中心研究
doi:10.1007/s00415-009-5424-8
更新日期:2010-05-01 00:00:00
abstract::Central nervous system (CNS) involvement in systemic lupus erythematosus (SLE) remains difficult to diagnose, particularly since structural abnormalities may not be revealed by magnetic resonance imaging (MRI). Glucose utilisation was measured by positron emission tomography (PET) in 35 SLE patients to detect signs of...
journal_title:Journal of neurology
pub_type: 杂志文章
doi:10.1007/s004150050071
更新日期:1997-03-01 00:00:00
abstract:OBJECTIVE:Spinal and bulbar muscular atrophy (SBMA) is caused by an abnormal expansion of the CAG repeat in the androgen receptor gene. This study aimed to systematically phenotype a German SBMA cohort (n = 80) based on laboratory markers for neuromuscular, metabolic, and endocrine status, and thus provide a basis for ...
journal_title:Journal of neurology
pub_type: 杂志文章
doi:10.1007/s00415-018-8790-2
更新日期:2018-05-01 00:00:00
abstract::Pontocerebellar hypoplasia type 2 (PCH2) is a very rare autosomal recessive disorder. We report two unrelated female patients born to consanguineous parents presenting with this condition. Patient 1 showed a classical clinical/neuroradiological phenotype of PCH2 with dyskinesia/dystonia. Patient 2 had a neonatal onset...
journal_title:Journal of neurology
pub_type: 杂志文章
doi:10.1007/s004150200069
更新日期:2002-05-01 00:00:00
abstract::Gilles de la Tourette's syndrome (GTS) and restless legs syndrome (RLS) are two different neurological disorders with common features such as involuntary movements. In both disorders a disturbance of the dopaminergic system has been considered among other possible mechanisms. Since periodic leg movements (PLMS) during...
journal_title:Journal of neurology
pub_type: 杂志文章
doi:10.1007/s004150050136
更新日期:1997-08-01 00:00:00
abstract::Cerebellar ataxias (CAs) represent a heterogeneous group of sporadic or inherited disorders. The clinical spectrum of CAs is continuously expanding. Our understanding of the mechanisms leading to the clinical deficits has improved over these last decades, in particular thanks to progress in genetics, neuroimaging and ...
journal_title:Journal of neurology
pub_type: 杂志文章,评审
doi:10.1007/s00415-020-09717-3
更新日期:2020-04-01 00:00:00
abstract::Fibrodysplasia ossificans progressiva (FOP) is a rare genetic disorder of progressive heterotopic ossification (HO) caused by a recurrent activating mutation of ACVR1/ALK2, a bone morphogenetic protein (BMP) type I receptor. FOP is characterized by progressive HO, which is associated with inflammation in the setting o...
journal_title:Journal of neurology
pub_type: 杂志文章
doi:10.1007/s00415-012-6563-x
更新日期:2012-12-01 00:00:00