Abstract:
:The article The immediate impact of the COVID‑19 pandemic on motor neuron disease services and mortality in Scotland, written by Stella A. Glasmacher, Juan Larraz, Arpan R. Mehta, Patrick K. A. Kearns, Michael Wong, Judith Newton, Richard Davenport, George Gorrie, Ian Morrison, Javier Carod Artal, Siddharthan Chandran, Suvankar Pal and CARE-MND Consortium, was originally published online on 5 September 2020 with Open Access under a Creative Commons Attribution 4.0 International License, which permits use, sharing, adaptation, distribution and reproduction in any medium or format, as long as you give appropriate credit to the original author(s) and the source, provide a link to the Creative Commons licence, and indicate if changes were made.
journal_name
J Neuroljournal_title
Journal of neurologyauthors
Glasmacher SA,Larraz J,Mehta AR,Kearns PKA,Wong M,Newton J,Davenport R,Gorrie G,Morrison I,Carod Artal J,Chandran S,Pal S,CARE-MND Consortium.doi
10.1007/s00415-020-10256-0subject
Has Abstractpub_date
2020-10-20 00:00:00eissn
0340-5354issn
1432-1459pii
10.1007/s00415-020-10256-0pub_type
已发布勘误abstract:BACKGROUND:Spinal muscular atrophy (SMA) is caused by a homozygous deletion of the survival motor neuron (SMN)1 gene. The nearly identical SMN2 gene plays a disease modifying role. SMA is classified into four different subtypes based on age of onset and clinical course (SMA types 1-4). The natural history of early onse...
journal_title:Journal of neurology
pub_type: 杂志文章
doi:10.1007/s00415-008-0929-0
更新日期:2008-09-01 00:00:00
abstract::This study aims to explore the clinical features, radiological findings, management and the factors influencing prognosis in PCR-confirmed herpes simplex virus encephalitis (HSE). This is a retrospective review of consecutive patients diagnosed with HSE at Mayo Clinic, Rochester, MN, between January 1995 and December ...
journal_title:Journal of neurology
pub_type: 杂志文章
doi:10.1007/s00415-015-7960-8
更新日期:2016-02-01 00:00:00
abstract:BACKGROUND:The cerebellum is a predilection site of pathology in progressive multiple sclerosis (PMS) patients, contributing to cognitive deficits. Aim of this study was to investigate lobular cerebellar functional connectivity (FC) in PMS patients in relation to cognition. METHODS:In this cross-sectional study, resti...
journal_title:Journal of neurology
pub_type: 杂志文章
doi:10.1007/s00415-018-8985-6
更新日期:2018-10-01 00:00:00
abstract::The aim of the present study was to assess the efficacy and safety of chronic subthalamic nucleus deep-brain stimulation (STN-DBS) in patients with Parkinson's disease (PD). 18 consecutive severely affected PD patients were included (mean age, SD: 56.9+/-6 years; mean disease duration: 13.5+/-4.4 years). All the patie...
journal_title:Journal of neurology
pub_type: 临床试验,杂志文章
doi:10.1007/s004150200059
更新日期:2002-05-01 00:00:00
abstract::Mutations in SCN2A cause epilepsy syndromes of variable severity including neonatal-infantile seizures. In one case, we previously described additional childhood-onset episodic ataxia. Here, we corroborate and detail the latter phenotype in three further cases. We describe the clinical characteristics, identify the ca...
journal_title:Journal of neurology
pub_type: 杂志文章
doi:10.1007/s00415-015-7984-0
更新日期:2016-02-01 00:00:00
abstract::Aquaporin-4 antibody (AQP4-Ab)-positive neuromyelitis optica spectrum disorder (NMOSD) is a rare but often severe autoimmune disease with median onset around 40 years of age. We report characteristics of three very-late-onset NMOSD (including complete NMO) patients >75 years of age, in whom this diagnosis initially se...
journal_title:Journal of neurology
pub_type: 杂志文章
doi:10.1007/s00415-015-7766-8
更新日期:2015-05-01 00:00:00
abstract::Quality of life is an important issue in the treatment of Parkinson's disease. Both general and disease specific quality of life scales are now being used in interventional trials. In the Sinemet CR First trial, the long-acting preparation was found to be superior to the immediate release preparation in several measur...
journal_title:Journal of neurology
pub_type: 杂志文章
doi:10.1007/pl00007735
更新日期:1998-05-01 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:BACKGROUND AND OBJECTIVE:An optimal management of vascular risk factors, associated with antithrombotic drugs and carotid surgery when appropriate, reduces the risk of a new vascular event after stroke. Although secondary prevention is not optimal in many patients in practice, the question of whether there is an improv...
journal_title:Journal of neurology
pub_type: 杂志文章
doi:10.1007/s00415-005-0591-8
更新日期:2005-01-01 00:00:00
abstract::Functional changes in the organisation of neuronal circuitries are generally used to explain parkinsonian motor symptoms and levodopa-induced dyskinesias. Based on information from histology and neurophysiological microrecordings of specific basal ganglia nuclei, the most widely accepted scheme is based on a central l...
journal_title:Journal of neurology
pub_type: 杂志文章,评审
doi:10.1007/pl00007765
更新日期:2000-04-01 00:00:00
abstract::Advances in molecular biology have resulted in novel therapy for neurofibromatosis 2-related (NF2) tumours, highlighting the need for robust outcome measures. The disease-focused NF2 impact on quality of life (NFTI-QOL) patient questionnaire was assessed as an outcome measure for treatment in a multi-centre study. NFT...
journal_title:Journal of neurology
pub_type: 杂志文章,多中心研究
doi:10.1007/s00415-014-7303-1
更新日期:2014-05-01 00:00:00
abstract::The frequency of malignant diseases among 1866 living and 340 deceased multiple sclerosis (MS) patients was investigated in Finland. The study revealed a low prevalence (0.64%) and mortality (0.07%) rate of cancer among MS patients. The difference between MS patients and general population was significant. The highest...
journal_title:Journal of neurology
pub_type: 杂志文章
doi:10.1007/BF00313623
更新日期:1977-10-07 00:00:00
abstract::The type and frequency of neurological manifestations of Behçet's disease (BD) vary with ethnicity. We analyzed the neurological manifestations of BD in Japanese patients. All patients undergoing treatment at one of the two Yokohama City University hospitals from July 1991 to December 2007 and who fulfilled the Japane...
journal_title:Journal of neurology
pub_type: 杂志文章,多中心研究
doi:10.1007/s00415-010-5454-2
更新日期:2010-06-01 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::Using high-performance liquid chromatography, adrenoleukodystrophy (ALD) and adrenomyeloneuropathy (AMN) were diagnosed by the analysis of fatty acids in sphingomyelin. The analytical method was simple, sensitive and accurate. In ALD and AMN patients, very long chain fatty acids (C26:0, C25:0 and C24:0 on the base of ...
journal_title:Journal of neurology
pub_type: 杂志文章
doi:10.1007/BF00313696
更新日期:1983-01-01 00:00:00
abstract:PURPOSE:The role of thalamus and brainstem in generalized epilepsy has been suggested in previous studies. The aim of the present study was to assess regional cerebral blood flow (rCBF) abnormality in juvenile myoclonic epilepsy (JME) patients. METHODS:(99m)Tc-ethylcysteinate dimer brain single photon emission compute...
journal_title:Journal of neurology
pub_type: 杂志文章
doi:10.1007/s00415-006-0491-6
更新日期:2007-08-01 00:00:00
abstract::The various clinical features of multiple system atrophy (MSA) make the diagnosis of the disease difficult, especially in its early stages, when signs of differentiated neuroanatomical system involvement have not yet appeared. Mortality studies may be affected by the variability of the diagnostic criteria and selectio...
journal_title:Journal of neurology
pub_type: 杂志文章
doi:10.1007/BF00868999
更新日期:1996-05-01 00:00:00
abstract::Few regional and seasonal Guillain-Barré syndrome (GBS) clusters have been reported so far. It is unknown whether patients suffering from sporadic GBS differ from GBS clusters with respect to clinical and paraclinical parameters, HLA association and antibody response to glycosphingolipids and Campylobacter jejuni (Cj)...
journal_title:Journal of neurology
pub_type: 杂志文章
doi:10.1007/s00415-016-8237-6
更新日期:2016-10-01 00:00:00
abstract::An 8-year-old boy with galactose-1-phosphate uridyl transferase (GALT) deficiency presented with hypotonia, muscle hypotrophy, hepatomegaly, bilateral cataract and mild mental retardation. Two brothers showed a GALT activity consistent with a homozygotic condition and both parents were found to be heterozygotes for th...
journal_title:Journal of neurology
pub_type: 杂志文章
doi:10.1007/BF00838160
更新日期:1993-05-01 00:00:00
abstract::Suicide is a leading cause of death in Huntington's disease (HD), following pneumonia. Up to one-fifth of individuals with HD report suicidal ideation. Identifying the risk factors of suicidal ideation in this clinical population is thus pivotal. Here, we review the literature on prevalence rates and risk factors of s...
journal_title:Journal of neurology
pub_type: 杂志文章,评审
doi:10.1007/s00415-018-9013-6
更新日期:2018-11-01 00:00:00
abstract:BACKGROUND:Rapid eye movement sleep behavior disorder (RBD) is highly comorbid with Parkinson's disease (PD). Emerging evidence suggests that dopamine-replacement therapies (DRTs) for PD may modify the course of RBD, yet the nature of the association between DRTs and RBD remains unclear. To begin addressing this issue,...
journal_title:Journal of neurology
pub_type: 杂志文章
doi:10.1007/s00415-020-09956-4
更新日期:2020-10-01 00:00:00
abstract::Myasthenia gravis (MG) is the archetypic disorder of both the neuromuscular junction and autoantibody-mediated disease. In most patients, IgG1-dominant antibodies to acetylcholine receptors cause fatigable weakness of skeletal muscles. In the rest, a variable proportion possesses antibodies to muscle-specific tyrosine...
journal_title:Journal of neurology
pub_type: 杂志文章,评审
doi:10.1007/s00415-015-7963-5
更新日期:2016-04-01 00:00:00
abstract::We have investigated how the abnormal head posture and motility in spasmodic torticollis interferes with ecological movements such as combined eye-to-foot whole-body reorientations to visual targets. Eight mildly affected patients and 10 controls voluntarily rotated eyes and body in response to illuminated targets of ...
journal_title:Journal of neurology
pub_type: 杂志文章
doi:10.1007/s00415-013-6937-8
更新日期:2013-08-01 00:00:00
abstract::Mutations in the mitofusin 2 (MFN2) gene are a major cause of primary axonal Charcot- Marie-Tooth (CMT) neuropathy. This study aims at further characterization of cerebral white matter alterations observed in patients with MFN2 mutations. Molecular genetic, magnetic resonance imaging (MRI), magnetic resonance spectros...
journal_title:Journal of neurology
pub_type: 杂志文章
doi:10.1007/s00415-008-0847-1
更新日期:2008-07-01 00:00:00
abstract::X-linked adrenoleukodystrophy (XALD), a neurological disorder caused by mutations in the peroxisomal membrane protein gene ABCD1, presents as a rapidly progressing, inflammatory cerebral demyelination (cerebral cases) or a slowly progressing, distal axonopathy (non-cerebral cases). Specific ABCD1 defects do not explai...
journal_title:Journal of neurology
pub_type: 杂志文章
doi:10.1007/s00415-011-6371-8
更新日期:2012-07-01 00:00:00
abstract::Sudden death has been reported in patients with multiple system atrophy (MSA), although the frequency of this event has not been well delineated. We investigated the frequency and potential causes of sudden death in patients with MSA. During the 5-year observation period, 10 of 45 patients with probable MSA died. The ...
journal_title:Journal of neurology
pub_type: 杂志文章
doi:10.1007/s00415-008-0941-4
更新日期:2008-10-01 00:00:00
abstract::From a family with essential familial myoclonus, 150 members in eight generations were studied. Twenty-five of them suffered from myoclonus of varying severity. The findings in routine examinations of blood, urine and cerebrospinal fluid, EEG and skull radiographs were normal. Therapeutic trials did not produce lastin...
journal_title:Journal of neurology
pub_type: 杂志文章
doi:10.1007/BF00313626
更新日期:1983-01-01 00:00:00
abstract:OBJECTIVES:Recent retrospective studies found sleep disorders, including obstructive sleep apnea and its symptoms to occur more often in patients following aneurysmal subarachnoid hemorrhage, but studies investigating the incidence of subarachnoid hemorrhage in patients with diagnosed obstructive sleep apnea [OSA] comp...
journal_title:Journal of neurology
pub_type: 杂志文章
doi:10.1007/s00415-019-09265-5
更新日期:2019-06-01 00:00:00
abstract::The objective was to identify factors associated with decisions made by patients with amyotrophic lateral sclerosis (ALS) to accept or decline non-invasive ventilation (NIV) and/or gastrostomy in a prospective population-based study. Twenty-one people with ALS, recruited from the South-East ALS Register who made an in...
journal_title:Journal of neurology
pub_type: 杂志文章
doi:10.1007/s00415-015-7665-z
更新日期:2015-01-01 00:00:00
abstract::Even though trigeminovestibular connections are well established in animals, mastication-induced dizziness has been described only as a vascular steal phenomenon in humans. We determined induction or modulation of nystagmus in two index patients with mastication-induced vertigo, 12 normal controls, and 52 additional p...
journal_title:Journal of neurology
pub_type: 杂志文章
doi:10.1007/s00415-013-7221-7
更新日期:2014-03-01 00:00:00