Abstract:
:We report a very rare case of Schwartz-Jampel syndrome associated with von Willebrand's disease. This association might be coincidental because of the different modes of inheritance of the two disorders. However, we speculate that there might be some link between the two disorders, for example in the locus of the affected gene.
journal_name
J Neuroljournal_title
Journal of neurologyauthors
Kuriyama M,Shinmyozu K,Osame M,Kawahira M,Igata Adoi
10.1007/BF00314041subject
Has Abstractpub_date
1985-01-01 00:00:00pages
49-51issue
1eissn
0340-5354issn
1432-1459journal_volume
232pub_type
杂志文章abstract::We report the effects of intravenous gamma-globulin (IVGG) in severe Guillain-Barré syndrome (GBS) in a small open study. Seven patients were given IVGG (0.4 g/kg/day) for 5 consecutive days. At the start of treatment all had progressing limb weakness and none could stand unaided. Within 24 h all but one patient start...
journal_title:Journal of neurology
pub_type: 杂志文章
doi:10.1007/BF00838447
更新日期:1993-01-01 00:00:00
abstract:INTRODUCTION:Duchenne muscular dystrophy (DMD) is induced by a wide spectrum of mutations such as exon deletions, duplications and small mutations in the dystrophin gene. This is the first study on the mutational spectrum in a cohort of DMD children from India, with an emphasis to compare the mutations in familial and ...
journal_title:Journal of neurology
pub_type: 杂志文章
doi:10.1007/s00415-019-09380-3
更新日期:2019-09-01 00:00:00
abstract::During recent years, evidence has come up that bipedal locomotion is based on a quadrupedal limb coordination. A task-dependent neuronal coupling of upper and lower limbs allows one to involve the arms during gait but to uncouple this connection during voluntarily guided arm/hand movements. Hence, despite the evolutio...
journal_title:Journal of neurology
pub_type: 杂志文章,评审
doi:10.1007/s00415-011-6063-4
更新日期:2011-08-01 00:00:00
abstract::Interferon beta (IFNbeta) therapy for multiple sclerosis (MS) is associated with a potential for the development of neutralising antibodies (NAbs) that negatively affect therapy. Several factors influence the development of NAbs, such as lack of complete sequence homology with the endogenous IFNbeta sequence, frequenc...
journal_title:Journal of neurology
pub_type: 杂志文章,评审
doi:10.1007/s00415-006-0486-3
更新日期:2007-07-01 00:00:00
abstract::The United Nations High Commissioner for Refugees (UNHCR) recognizes 43.7 million forcibly displaced persons and asylum seekers due to conflict and persecution worldwide. Neurological disorders have rarely been described in displaced persons but likely pose a significant burden of disease. We describe the disease spec...
journal_title:Journal of neurology
pub_type: 杂志文章
doi:10.1007/s00415-011-6248-x
更新日期:2012-04-01 00:00:00
abstract::Although awareness of non-motor symptoms in Parkinson's disease (PD) has recently increased, little is known about their recognition and treatment in routine clinical practice. We therefore applied non-motor rating scales for dementia, depression, anxiety and excessive daytime sleepiness to a community-ascertained coh...
journal_title:Journal of neurology
pub_type: 杂志文章
doi:10.1007/s00415-011-5972-6
更新日期:2011-08-01 00:00:00
abstract::A 73-year-old woman presented with multifocal cerebral dysfunction of 1 month's duration. Cranial CT scanning revealed unusual widespread abnormalities. Brain biopsy showed amyloid angiopathy affecting vessels in the meninges and cerebral cortex, with associated granulomatous angiitis. There was no clinical evidence o...
journal_title:Journal of neurology
pub_type: 杂志文章
doi:10.1007/BF00314491
更新日期:1988-09-01 00:00:00
abstract:AIM:To assess: (1) the prevalence of convexity subarachnoid hemorrhage (cSAH) in infective endocarditis (IE); (2) its relationship with IE features; (3) the associated lesions; (4) whether cSAH is a predictor of future hemorrhage; (5) whether cSAH could cause cortical superficial siderosis (cSS). METHODS:We retrospect...
journal_title:Journal of neurology
pub_type: 杂志文章
doi:10.1007/s00415-020-09953-7
更新日期:2020-10-01 00:00:00
abstract::Two patients are reported with a chronic progressive illness characterized by dementia, ataxia and spasticity. There were no myoclonic jerks and both had normal electroencephalograms (EEG). Pathological findings in three brain biopsies were those of viral meningoencephalitis with perivenous demyelination. Serological ...
journal_title:Journal of neurology
pub_type: 杂志文章
doi:10.1007/BF00313048
更新日期:1979-09-01 00:00:00
abstract::Risk of relapse after natalizumab (NAT) cessation and switch to dimethyl fumarate (DMF) is unknown. The objective of this paper is to identify the risk and associated risk factors for relapse after switching from NAT to DMF in relapsing-remitting multiple sclerosis. Patients (n = 30) were treated with NAT for ≥12 mont...
journal_title:Journal of neurology
pub_type: 杂志文章
doi:10.1007/s00415-016-8162-8
更新日期:2016-08-01 00:00:00
abstract:OBJECTIVE:Patient reported outcome measures (PROMs) can provide researchers with a direct view of patients' experiences. They are becoming increasingly important tools for evaluating clinical care and research outcomes. There has been little data on the application of PROMs to amyotrophic lateral sclerosis (ALS) care. ...
journal_title:Journal of neurology
pub_type: 杂志文章
doi:10.1007/s00415-020-09774-8
更新日期:2020-06-01 00:00:00
abstract:BACKGROUND AND OBJECTIVE:To identify the most responsive and sensitive clinical outcome measures in GNE myopathy. METHODS:ClinBio-GNE is a natural history study in GNE myopathy. Patients were assessed prospectively by clinical, functional and quantitative nuclear magnetic resonance imaging (qNMRI) evaluations. Strengt...
journal_title:Journal of neurology
pub_type: 杂志文章
doi:10.1007/s00415-019-09569-6
更新日期:2020-01-01 00:00:00
abstract::Histopathological and magnetic resonance imaging (MRI) studies have shown white matter (WM) damage in early stages of multiple sclerosis (MS) beyond the apparent T2-hyperintense lesions. These changes in normal appearing WM (NAWM) are important with regard to the clinical picture and prognosis. However, the detection ...
journal_title:Journal of neurology
pub_type: 杂志文章
doi:10.1007/s00415-016-8156-6
更新日期:2016-08-01 00:00:00
abstract::Whole genome screening is increasingly used to identify genetic risk factors for complex diseases. In this study, a genome wide linkage disequilibrium (LD) screen was performed in a cohort of Parkinson's disease (PD) patients from the UK (n = 195) using pooled DNA to facilitate efficient genotyping of 5546 microsatell...
journal_title:Journal of neurology
pub_type: 杂志文章
doi:10.1007/s00415-005-0686-2
更新日期:2005-05-01 00:00:00
abstract::Weight loss is a common symptom of Parkinson's disease and is associated with impaired quality of life. Predictors of weight loss have not been studied in large clinical cohorts. We previously observed an association between change in body mass index and change in Unified Parkinson's Disease Rating Scale (UPDRS) motor...
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/s00415-017-8562-4
更新日期:2017-08-01 00:00:00
abstract::Degeneration of central dopaminergic neurons is the most characteristic pathological feature of Parkinson's disease. It remains to be established to what extent these lesions explain the motor, cognitive and affective disorders observed in patients, but there are now some interesting clues to a possible solution. ...
journal_title:Journal of neurology
pub_type: 杂志文章,评审
doi:10.1007/BF00819560
更新日期:1992-01-01 00:00:00
abstract::Parkinson's disease (PD) is a neurodegenerative disorder of the aging population with unknown etiopathogenesis. It is assumed that the underlying pathobiochemical processes comprise multifactorial and multigenetic disturbances leading to a progressive and devastating disorder without remission. Subtypes exist suggesti...
journal_title:Journal of neurology
pub_type: 杂志文章,评审
doi:10.1007/pl00007777
更新日期:2000-09-01 00:00:00
abstract::Epileptic syndromes are distinctive disorders with specific features, which when taken together, permit a specific diagnosis. There is actually a debate on that medial temporal lobe epilepsy with hippocampal sclerosis is an epileptic syndrome. To address this issue, we searched for discriminative semiological features...
journal_title:Journal of neurology
pub_type: 杂志文章
doi:10.1007/s00415-017-8441-z
更新日期:2017-05-01 00:00:00
abstract::Hearing deficits associated with cognitive impairment have attracted much recent interest, motivated by emerging evidence that impaired hearing is a risk factor for cognitive decline. However, dementia and hearing impairment present immense challenges in their own right, and their intersection in the auditory brain re...
journal_title:Journal of neurology
pub_type: 杂志文章,评审
doi:10.1007/s00415-016-8208-y
更新日期:2016-11-01 00:00:00
abstract::Progressive multifocal leukoencephalopathy (PML) is a subacute demyelinating disease of the brain caused by the JC virus that occurs mainly in immunocompromised patients. The prognosis is very poor. As the lesion looks like non- specific leukoencephalopathy, making a diagnosis at the early stage is very difficult. We ...
journal_title:Journal of neurology
pub_type: 杂志文章
doi:10.1007/s00415-014-7500-y
更新日期:2014-12-01 00:00:00
abstract::The APOE*4 allele of the apolipoprotein E gene increases the risk of Alzheimer's disease (AD), but whether it also affects the course of the disease is controversial. However, all studies on this issue until now have been based on patients at various stages of disease. In the present population-based study, 97 patient...
journal_title:Journal of neurology
pub_type: 杂志文章
doi:10.1007/s004150050351
更新日期:1999-04-01 00:00:00
abstract::The three main immunoglobulin classes obey the basic principles of passive protein transfer at the blood-CSF barrier and the serum-derived portions could therefore be quantified with the help of the permeability marker albumin. The Ig fractions secreted into the CSF by sessile plasma cell clones have been determined i...
journal_title:Journal of neurology
pub_type: 杂志文章
doi:10.1007/BF00313413
更新日期:1982-01-01 00:00:00
abstract::The development of Guillain-Barré syndrome is reported in a patient, who had previously received botulinum toxin type A injections into both orbicularis oculi muscles to treat idiopathic blepharospasm. The possibility of a causal relationship is discussed with consideration of the literature on adverse effects of vacc...
journal_title:Journal of neurology
pub_type: 杂志文章
doi:10.1007/BF00319673
更新日期:1990-02-01 00:00:00
abstract::We report two adult Japanese sisters with L-2-hydroxy-glutaric aciduria (acidemia), both of whom were much older (aged 57, 47 years old) than previously reported patients (from neonate to 44 years old), and who presented with differing severity. Magnetic resonance imaging revealed typical subcortical white matter lesi...
journal_title:Journal of neurology
pub_type: 杂志文章
doi:10.1007/s004150050367
更新日期:1999-05-01 00:00:00
abstract::Recessive mutations in GJC2, the gene-encoding connexin 47 (Cx47), cause Pelizaeus-Merzbacher-like disease type 1, a severe dysmyelinating disorder. One recessive mutation (p.Ile33Met) has been associated with a much milder phenotype--hereditary spastic paraplegia type 44. Here, we present evidence that a novel Arg98L...
journal_title:Journal of neurology
pub_type: 杂志文章
doi:10.1007/s00415-014-7429-1
更新日期:2014-10-01 00:00:00
abstract:AIM:To investigate whether primary lateral sclerosis (PLS) represents part of the amyotrophic lateral sclerosis-frontotemporal dementia (ALS-FTD) spectrum of diseases. METHODS:Comprehensive assessment was taken on 21 patients with PLS and results were compared to patients diagnosed with pure motor ALS (n = 27) and ALS...
journal_title:Journal of neurology
pub_type: 杂志文章
doi:10.1007/s00415-018-8917-5
更新日期:2018-08-01 00:00:00
abstract::We studied the diagnostic value of computed tomographic angiography (CTA) in the posterior circulation as a noninvasive substitute for intra-arterial digital subtraction angiography (DSA). We prospectively investigated 103 patients with acute stroke in the posterior circulation. All patients underwent CTA and Doppler ...
journal_title:Journal of neurology
pub_type: 临床试验,杂志文章
doi:10.1007/s004150070089
更新日期:2000-10-01 00:00:00
abstract::Cognitive features, which begin before manifestation of the motor features, are an integral part of Huntington's disease and profoundly affect quality of life. A number of neuropsychological batteries have been used to assess this aspect of the condition, many of which are difficult to administer and time consuming, e...
journal_title:Journal of neurology
pub_type: 杂志文章
doi:10.1007/s00415-013-7061-5
更新日期:2013-11-01 00:00:00
abstract::The effect of local cooling was studied in 28 patients with myastenia gravis. We stimulated the ulnar nerve with single stimuli and trains at 3/s for 2s and at 50/s for 1.5 s. The compound muscle action potential (MAP), the muscle twitch and the isometric tetanic force of the adductor pollicis were registered. 1. At 3...
journal_title:Journal of neurology
pub_type: 杂志文章
doi:10.1007/BF00314051
更新日期:1977-11-01 00:00:00
abstract:OBJECTIVE:To determine the response to treatment and the long-term outcome of patients with the antisynthetase syndrome associated with anti-Jo-1-antibodies. PATIENTS AND METHODS:A total of 12 patients with histologically proven myositis and anti-Jo-1-autoantibodies were evaluated over a mean follow-up period of 66.4 ...
journal_title:Journal of neurology
pub_type: 杂志文章
doi:10.1007/s00415-004-0449-5
更新日期:2004-07-01 00:00:00