Abstract：
:Presymptomatic studies in ALS have consistently captured considerable disease burden long before symptom manifestation and contributed important academic insights. With the emergence of genotype-specific therapies, however, there is a pressing need to address practical objectives such as the estimation of age of symptom onset, phenotypic prediction, informing the optimal timing of pharmacological intervention, and identifying a core panel of biomarkers which may detect response to therapy. Existing presymptomatic studies in ALS have adopted striking different study designs, relied on a variety of control groups, used divergent imaging and electrophysiology methods, and focused on different genotypes and demographic groups. We have performed a systematic review of existing presymptomatic studies in ALS to identify common themes, stereotyped shortcomings, and key learning points for future studies. Existing presymptomatic studies in ALS often suffer from sample size limitations, lack of disease controls and rarely follow their cohort until symptom manifestation. As the characterisation of presymptomatic processes in ALS serves a multitude of academic and clinical purposes, the careful review of existing studies offers important lessons for future initiatives.
journal_name
J Neuroljournal_title
Journal of neurologyauthors
Chipika RH,Siah WF,McKenna MC,Li Hi Shing S,Hardiman O,Bede Pdoi
10.1007/s00415-020-10289-5subject
Has Abstractpub_date
2020-10-31 00:00:00eissn
0340-5354issn
1432-1459pii
10.1007/s00415-020-10289-5pub_type
杂志文章,评审abstract：:A night-time polygraphic sleep recording with continuous HbSaO2 monitoring was performed in 11 chair-bound Duchenne muscular dystrophy patients with severe restrictive lung disease but with blood gas values within normal limits when awake. No abnormalities of sleep pattern were detected. Nocturnal sleep did not have s...
journal_title：Journal of neurology
pub_type： 杂志文章
doi：10.1007/BF00314896
更新日期：1989-10-01 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：:We evaluated cyclosporine A (CsA) treatment in 9 patients (6 female and 3 male), 16-63 years old, with severe myasthenia gravis (MG) for a mean period of 2 years (range 16-36 months). All of the patients had been previously treated either with corticosteroids or by combined immunotherapy, and 5 needed periodic plasma ...
journal_title：Journal of neurology
pub_type： 临床试验,杂志文章
doi：10.1007/s004150050141
更新日期：1997-09-01 00:00:00
abstract：:We evaluated the health economic burden of patients with Gilles de la Tourette's syndrome (GTS) in Germany over a 3-month observation period. Direct and indirect costs were evaluated in 200 outpatients with GTS (mean age 35 +/- 11.5 years) in Germany. Patients were recruited from three outpatient departments that spec...
journal_title：Journal of neurology
pub_type： 杂志文章
doi：10.1007/s00415-010-5458-y
更新日期：2010-07-01 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：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：:The etiology of spontaneous cervical artery dissection (sCAD) is unknown. An underlying connective tissue disorder has been suggested. As a collagen disease is conceivable several genes encoding fibrillar collagens have been condsidered as candidate genes for sCAD. We analysed the COL3A1 gene in patients with spontane...
journal_title：Journal of neurology
pub_type： 杂志文章
doi：10.1007/s00415-002-0745-x
更新日期：2002-07-01 00:00:00
abstract：:We examined the effect of bilateral subthalamic nucleus stimulation on levodopa-resistant balance impairment in 14 patients with Parkinson's disease and 18 matched controls. Instability was quantitatively assessed using standardized multidirectional dynamic posturography. Patients were tested after taking a suprathres...
journal_title：Journal of neurology
pub_type： 杂志文章
doi：10.1007/s00415-008-0636-x
更新日期：2008-02-01 00:00:00
abstract：:A retrospective study was performed to investigate seasonal variation in stroke incidence and to evaluate the hypothesis that cold might be a risk factor. Data were obtained from the central registry of the Hospital de S. João, Porto, Portugal, concerning 4048 patients consecutively admitted for cerebrovascular diseas...
journal_title：Journal of neurology
pub_type： 杂志文章
doi：10.1007/BF00919594
更新日期：1995-03-01 00:00:00
abstract：:A myasthenia gravis (MG) patient who seems to have recovered can later have recurrence of myasthenic signs. Clearly clinical remission does not always correspond to the normalization of all the factors involved in the pathogenesis of the disease. In ten patients who had apparently recovered from MG, electromyographic ...
journal_title：Journal of neurology
pub_type： 杂志文章
doi：10.1007/BF00313771
更新日期：1982-01-01 00:00:00
abstract：:Movement disorder emergencies include any movement disorder which evolves over hours to days, in which failure to appropriately diagnose and manage can result in patient morbidity or mortality. It is crucial that doctors recognize these emergencies with accuracy and speed by obtaining the proper history and by being f...
journal_title：Journal of neurology
pub_type： 杂志文章,评审
doi：10.1007/s00415-008-4002-9
更新日期：2008-08-01 00:00:00
abstract：:Ten female patients suffering from catamenial epilepsy were treated with a synthetic analogue of the gonadotrophin releasing hormone (GnRH) in addition to antiepileptic drugs. Three of the patients became seizure free, in four patients seizure frequency decreased and in one patient seizures were of shorter duration. I...
journal_title：Journal of neurology
pub_type： 杂志文章
doi：10.1007/BF00810354
更新日期：1992-05-01 00:00:00
abstract：:We present a clinical, neuro-radiological and genetic study on a family with members suffering from an autosomal dominantly inherited syndrome characterised by epilepsy, cerebral calcifications and cysts, bone abnormalities; progressive neuro-cognitive deterioration and paranasal sinusitis. This syndrome shares severa...
journal_title：Journal of neurology
pub_type： 杂志文章
doi：10.1007/s00415-014-7393-9
更新日期：2014-10-01 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：: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：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：INTRODUCTION:Ataxic polyneuropathy, which occurs in endemic form in an area in southwest Nigeria, is attributed to exposure to cyanide from cassava foods. Exposure to cyanide from cassava is, however, not exclusive to this endemic area. In this study, the occurrence of ataxic polyneuropathy was compared in two communit...
journal_title：Journal of neurology
pub_type： 杂志文章
doi：10.1007/s00415-002-0779-0
更新日期：2002-08-01 00:00:00
abstract：:A total of 21 patients with normal-pressure hydrocephalus were examined. Cerebrospinal fluid (CSF) was collected before and after operation with a ventriculoperitoneal shunt. A slight plasma-like protein pattern indicating a blood-brain barrier (BBB) dysfunction was seen in 38% of the patients before operation. No cha...
journal_title：Journal of neurology
pub_type： 杂志文章
doi：10.1007/BF00313729
更新日期：1982-01-01 00:00:00
abstract：:The management of high-grade glioma (HGG) has evolved significantly over the last decade. Patients are managed in a multidisciplinary team setting in order to ensure their care is guided by the most current evidenced based treatments. The outcome in patients with HGG, while still poor, has improved in terms of both su...
journal_title：Journal of neurology
pub_type： 杂志文章,评审
doi：10.1007/s00415-013-7032-x
更新日期：2014-04-01 00:00:00
abstract：:Cognitive impairment belongs to the core symptoms in MS affecting quality of life, self-esteem, and social as well as occupational functioning. Due to this high impact on patients' well-being efficient treatment concepts are required. Imaging studies on cognition have shown that functional reorganisation takes place s...
journal_title：Journal of neurology
pub_type： 杂志文章,评审
doi：10.1007/s00415-007-2013-6
更新日期：2007-05-01 00:00:00
abstract：:The safety and efficacy of intravenous thrombolysis (IVT) in dissection-related ischemic stroke (DRIS) has not been established. We sought to determine safety and recovery rates of IVT in DRIS using prospective, international, multicenter data and by conducting a comprehensive meta-analysis of reported case series. We...
journal_title：Journal of neurology
pub_type： 杂志文章,meta分析,多中心研究
doi：10.1007/s00415-015-7829-x
更新日期：2015-09-01 00:00:00
abstract：:There is increasing evidence that inflammation plays an important role in the progression of acute ischemic stroke (AIS). The primary aims of this study were to examine the serum levels of 13 cytokines, C-reactive protein (CRP), glucose, and hemoglobin in AIS patients, and their relationship to stroke lateralization, ...
journal_title：Journal of neurology
pub_type： 杂志文章
doi：10.1007/s00415-011-6006-0
更新日期：2011-04-01 00:00:00
abstract：:The electrically elicited blink reflex was investigated in 25 patients with ischaemic lesions of the pons or the medulla oblongata. Only patients with a lesion on MRI appropriate to the clinical syndrome were included. Twenty patients had an infarction of the pons, bilateral in 5. Additional 5 patients had an infarcti...
journal_title：Journal of neurology
pub_type： 杂志文章
doi：10.1007/BF00870670
更新日期：1993-11-01 00:00:00
abstract：BACKGROUND:Adequate cerebral blood flow (CBF) is mainly governed by neurovascular coupling (NC) which adapts local CBF to underlying cortical activity,and cerebral autoregulation (CA)that tends to maintain constant CBF despite changes in arterial blood pressure (BP). Since it was suggested that resistance vessels play ...
journal_title：Journal of neurology
pub_type： 杂志文章
doi：10.1007/s00415-006-0338-1
更新日期：2007-02-01 00:00:00
abstract：:Mal de debarquement (MdD) is a subjective perception of self-motion after exposure to passive motion, in most cases sea travel, hence the name. Mal de debarquement occurs quite frequently in otherwise healthy individuals for a short period of time (several hours). However, in some people symptoms remain for a longer p...
journal_title：Journal of neurology
pub_type： 杂志文章,评审
doi：10.1007/s00415-015-7962-6
更新日期：2016-05-01 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：:Cluster headache (CH) is characterized by attacks of severe, strictly unilateral pain that is orbital, supraorbital, temporal, or any combination of these, lasts 15-180 min, and occurs from once every other day to eight times a day. The pain is associated with ipsilateral conjunctival injection, lacrimation, nasal con...
journal_title：Journal of neurology
pub_type： 杂志文章,评审
doi：10.1007/s00415-018-9007-4
更新日期：2019-05-01 00:00:00
abstract：:Although silent infarcts (SIs) are frequent in stroke patients, their clinical significance remains controversial, and their effect on stroke outcome remains unclear. This study evaluated the prevalence of SI on computed tomography, associated factors, and the effect on outcome in stroke patients. We studied 202 conse...
journal_title：Journal of neurology
pub_type： 杂志文章
doi：10.1007/s004150170200
更新日期：2001-04-01 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
