Abstract：
:We studied the limitations to early diagnosis in amyotrophic lateral sclerosis (ALS). The diagnostic process was assessed in 120 consecutive patients, including onset, interval to diagnosis, investigations, specialist assessment and pre-diagnostic management. Times from onset to first consultation (T1), second consultation (T2) and diagnosis (TD) were considered. Predictors of diagnostic delay were determined by multivariate logistic regression, adjusted for gender, age, clinical manifestations, and specialism of the first and second consultants. There were 101 consecutive ALS patients with complete datasets (69% men; median age at diagnosis 61.5 years). The mean TD and median TD were respectively 10.1 and 9.5 months. In 55%, the first consultant was a general practitioner (GP), in 16% a neurologist and in 14% an orthopedist. The diagnosis of ALS was made by non-neurologists in 9 patients. The odds of delayed diagnosis (≥ 12 months) were higher (1.56; 0.19-12.56) in younger patients (≤ 45 years) (p<0.05). Female gender (0.56; 0.29-1.70) and bulbar-onset (0.56; 0.29-1.70) were independently associated with earlier diagnosis (p<0.05). Assessment by a neurologist at the first (0.32; 0.19-2.46) or second consultation (0.87; 0.21-1.21) was associated with a shorter diagnosis time (< 12 months) (p<0.05). We conclude that diagnostic delay mainly resulted from delayed referral from non-neurologist physicians to a neurologist. Moreover, incomplete neurophysiological investigation had a relevant impact.
journal_name
J Neurol Scijournal_title
Journal of the neurological sciencesauthors
Nzwalo H,de Abreu D,Swash M,Pinto S,de Carvalho Mdoi
10.1016/j.jns.2014.06.003subject
Has Abstractpub_date
2014-08-15 00:00:00pages
173-5issue
1-2eissn
0022-510Xissn
1878-5883pii
S0022-510X(14)00373-6journal_volume
343pub_type
杂志文章abstract：OBJECTIVE:Multiple sclerosis (MS) is a disabling idiopathic inflammatory disorder with evidence of immune dysfunction. Current therapies for MS include preparations of beta-interferon (beta IFN). We studied the gene expression patterns in peripheral blood mononuclear cells from relapsing-remitting MS patients undergoin...
journal_title：Journal of the neurological sciences
pub_type： 杂志文章
doi：10.1016/j.jns.2007.02.034
更新日期：2007-07-15 00:00:00
abstract：BACKGROUND:Intracerebral hemorrhage (ICH) growth is an important independent predictor of clinical deterioration and outcome. Little is known about the association between etiology of ICH and occurrence of hematoma expansion (HE). The aim of the present study was to assess whether ICH etiologic subtype may influence th...
journal_title：Journal of the neurological sciences
pub_type： 杂志文章
doi：10.1016/j.jns.2015.11.024
更新日期：2015-12-15 00:00:00
abstract：BACKGROUND:Longitudinally extensive transverse myelitis (LETM) is a frequent manifestation of neuromyelitis optica spectrum disorder (NMOSD). However, it can also occur in other immune-mediated diseases of the central nervous system (CNS). Positive aquoporin-4 antibodies (AQP4-ab) predict higher relapse rate after LETM...
journal_title：Journal of the neurological sciences
pub_type： 杂志文章
doi：10.1016/j.jns.2016.12.033
更新日期：2017-02-15 00:00:00
abstract：PURPOSE:To investigate the presence of an ethnicity bias within patients presenting with optic neuritis in London. DESIGN:Observational cross-sectional study. METHODS:The ethnicity profile of all patients attending a neuro-ophthalmology clinic in central London with acute optic neuritis over a 16month period (n=86) w...
journal_title：Journal of the neurological sciences
pub_type： 杂志文章
doi：10.1016/j.jns.2011.08.030
更新日期：2012-01-15 00:00:00
abstract：INTRODUCTION:Encephalitis is a rare complication of primary varicella-zoster virus (VZV) infection in immunocompetent children. METHODS:The clinical and laboratory findings of two girls with VZV-related encephalitis are reported. RESULTS:Both children presented with focal epileptic seizures, corresponding to cortical...
journal_title：Journal of the neurological sciences
pub_type： 杂志文章
doi：10.1016/s0022-510x(02)00017-5
更新日期：2002-03-30 00:00:00
abstract：BACKGROUND:Neural tube defects (NTD) are complex malformations rare in black Americans and Japanese. The incidence related to births or community-based studies have not been published in Cameroon or in black sub-Saharan countries, except one study in the Nigerian middle belt [Airede KI. Neural tube defects in the middl...
journal_title：Journal of the neurological sciences
pub_type： 杂志文章,多中心研究
doi：10.1016/j.jns.2008.01.010
更新日期：2008-07-15 00:00:00
abstract：:This paper describes 2 brothers with increasingly severe exercise-induced muscle pain and stiffness, beginning in adolescence. Histochemical studies showed that myoadenylate deaminase activity was absent in the propositus, but present in his younger brother. Biochemical examination of muscle homogenates confirmed thes...
journal_title：Journal of the neurological sciences
pub_type： 杂志文章
doi：10.1016/0022-510x(82)90086-7
更新日期：1982-01-01 00:00:00
abstract：BACKGROUND:CYP2D6 gene encoding CYP2D6 enzyme belonging to the cytochrome P450 system has aroused long attention being a candidate gene for Alzheimer's disease (AD), but the results remain inconsistent and underpowered. OBJECTIVES:To investigate the contradictory results, the effect of single CYP2D6 polymorphism- CYP2...
journal_title：Journal of the neurological sciences
pub_type： 杂志文章,meta分析
doi：10.1016/j.jns.2014.05.033
更新日期：2014-08-15 00:00:00
abstract：:Myositis was proven histopathologically in 4 patients (age range 36-66 years) who suffered from early or late stages of Borrelia burgdorferi infection. Muscle weakness was present in 3 patients, 1 complaining of additional myalgias. One man came to medical attention because of skin discoloration and swelling of one le...
journal_title：Journal of the neurological sciences
pub_type： 杂志文章
doi：10.1016/0022-510x(89)90089-0
更新日期：1989-06-01 00:00:00
abstract：PURPOSE:MRI helps in detecting the etiology of epilepsy, which may assist in better management. However its role in emergency situations like status epilepticus (SE) is still not clear. We analyzed the MRI findings in various subtypes of SE and tried to find out if etiological diagnosis improves by doing MRI over and a...
journal_title：Journal of the neurological sciences
pub_type： 杂志文章
doi：10.1016/j.jns.2008.05.013
更新日期：2008-09-15 00:00:00
abstract：:In Creutzfeldt-Jakob disease (CJD), there are prominent ultrastructural alterations of the plasma membrane, which contains many glycolipids and glycoproteins. Glycosidases can degrade glycolipids and glycoproteins. Gangliosides, a subset of glycolipids, are decreased in amount at the terminal stages of CJD, and CJD in...
journal_title：Journal of the neurological sciences
pub_type： 杂志文章
doi：10.1016/0022-510x(88)90178-5
更新日期：1988-03-01 00:00:00
abstract：BACKGROUND:Allelic heterogeneity and phenotype variability-especially in age at onset, penetrance and progression-are reported in ALS1 families. For this reason, SOD1 gene mutation data in ALS1 patients are currently being gathered to better understand the genotype-phenotype relationship in this disorder. Here, we repo...
journal_title：Journal of the neurological sciences
pub_type： 杂志文章
doi：10.1016/j.jns.2003.10.018
更新日期：2004-04-15 00:00:00
abstract：:Recently described techniques for separating myosin isoenzymes have been adapted for analysis of myosins from diseased and developing human skeletal muscle. The method is highly suitable for analysis of human myosins because only 2 - 3 mg of muscle are required for routine analyses. Human embryonic/foetal myosins are ...
journal_title：Journal of the neurological sciences
pub_type： 杂志文章
doi：10.1016/0022-510x(81)90018-6
更新日期：1981-11-01 00:00:00
abstract：PURPOSE:We compared clinical characteristics and outcomes of the early-onset seizure post-stroke patients who had seizures occurring at stroke presentation (SSP) with other patients without SSP at a single institution in Eastern China. METHODS:We reviewed 20,947 ischemic stroke patients in our hospital electronic medi...
journal_title：Journal of the neurological sciences
pub_type： 杂志文章
doi：10.1016/j.jns.2018.01.028
更新日期：2018-04-15 00:00:00
abstract：:A Finnish family is described with 9 cases of presenile dementia in 3 generations. The mean age at onset was 52 years (range 46--62 years). Progressive dementia, upper motor neuron signs, muscular rigidity, and twitching, irregular tremors were consistent features in the 6 clinically investigated patients and were ass...
journal_title：Journal of the neurological sciences
pub_type： 杂志文章
doi：10.1016/0022-510x(79)90171-0
更新日期：1979-08-01 00:00:00
abstract：:We found that fused human muscle in culture supports neurotropic influenza A viral infection, as demonstrated by viral growth experiments, hemadsorption, observation of cytopathic changes and detection of intracellular viral antigen. The time of peak virion production and the appearance of cytopathic effects in these ...
journal_title：Journal of the neurological sciences
pub_type： 杂志文章
doi：10.1016/0022-510x(78)90101-6
更新日期：1978-01-01 00:00:00
abstract：:Hypnic headache (HH) is a rare benign disorder described initially by Raskin in 1988. It is characterized by recurrent nocturnal episodes of headache that periodically awaken the sleeping patient and usually occur in the elderly. This review is aimed at describing the clinical features of the HH cases in childhood tha...
journal_title：Journal of the neurological sciences
pub_type： 杂志文章,评审
doi：10.1016/j.jns.2015.06.048
更新日期：2015-09-15 00:00:00
abstract：:Fibroblasts obtained from patients with Friedreich's ataxia and normal control subjects were studied by immunocytochemistry for intermediate filament vimentin and also for in vitro proliferation. Trypsinized cells were seeded on coverslips and incubated for 1.5 h and 24 h. The expression of vimentin in cells was inves...
journal_title：Journal of the neurological sciences
pub_type： 杂志文章
doi：10.1016/0022-510x(93)90168-x
更新日期：1993-07-01 00:00:00
abstract：IMPORTANCE:Natalizumab was approved in 2004 by the US Food and Drug Administration (US-FDA) for treatment of multiple sclerosis (MS), however it was temporarily withdrawn after its use was associated with progressive multifocal leukoencephalopathy (PML). Other reported adverse events have included melanoma, primary cen...
journal_title：Journal of the neurological sciences
pub_type： 杂志文章
doi：10.1016/j.jns.2014.03.007
更新日期：2014-05-15 00:00:00
abstract：INTRODUCTION:Whether motor neuron diseases (MNDs) can be considered in some cases of paraneoplastic syndromes is controversial. We report a case of rapidly progressive motor neuronopathy following a diagnosis of breast carcinoma, with a presence of anti-Ri antibodies, and a novel SOD1 gene mutation. OBSERVATION:An 80-...
journal_title：Journal of the neurological sciences
pub_type： 杂志文章
doi：10.1016/j.jns.2013.11.025
更新日期：2014-02-15 00:00:00
abstract：:Fatty acid compositions of erythrocyte membrane phospholipids including phosphatidylethanolamine subclasses, blood plasma and mononuclear cells of 8 patients with myotonic dystrophy (MyD) and 8 normal controls were analyzed by high performance liquid chromatography. Slight changes (decreased C18:2 and increased C16:0)...
journal_title：Journal of the neurological sciences
pub_type： 杂志文章
doi：10.1016/0022-510x(85)90077-2
更新日期：1985-12-01 00:00:00
abstract：OBJECTIVE:To determine the sensitivity and specificity of clonal immunoglobulin heavy chain gene rearrangement (IGHR) analysis in the distinction of benign and malignant lymphoproliferative diseases. METHODS:A retrospective analysis was conducted of patients in whom a malignant lymphoproliferative process was suspecte...
journal_title：Journal of the neurological sciences
pub_type： 杂志文章
doi：10.1016/j.jns.2006.05.044
更新日期：2006-09-25 00:00:00
abstract：:Ninety-four asymptomatic patients with internal carotid artery occlusion were followed for a mean of 44 months, 16% suffered strokes and 11.7% reported transient ischemic attacks (TIA). The annual stroke and TIA rates were 4.4% and 3.2%, respectively, the annual mortality was 11.3%. In 27 asymptomatic patients progres...
journal_title：Journal of the neurological sciences
pub_type： 杂志文章
doi：10.1016/0022-510x(90)90262-l
更新日期：1990-09-01 00:00:00
abstract：:Dietary supplements containing Ephedra used for weight loss and physical performance enhancement such as "herbal ecstasy" are widely available, and it is estimated that at least 1% of the adult population have taken these products. Ephedra products including Ephedra alkaloids such as phenylpropanolamine or other ephed...
journal_title：Journal of the neurological sciences
pub_type： 杂志文章
doi：10.1016/j.jns.2003.08.012
更新日期：2004-01-15 00:00:00
abstract：OBJECTIVE:GM1 ganglioside has been suggested as a treatment for Parkinson's disease (PD), potentially having symptomatic and disease modifying effects. The current pilot imaging study was performed to examine effects of GM1 on dopamine transporter binding, as a surrogate measure of disease progression, studied longitud...
journal_title：Journal of the neurological sciences
pub_type： 临床试验,杂志文章
doi：10.1016/j.jns.2015.06.028
更新日期：2015-09-15 00:00:00
abstract：:Post-stroke epilepsy (PSE) is defined as "recurrent seizures following stroke with confirmed diagnosis of epilepsy". Our objective was to describe the epidemiological, clinical and therapeutic PSE aspects at the Yalgado Ouedraogo Teaching Hospital, the main reference centre for neurological conditions in Burkina Faso....
journal_title：Journal of the neurological sciences
pub_type： 杂志文章
doi：10.1016/j.jns.2016.06.038
更新日期：2016-09-15 00:00:00
abstract：:We report a family with a novel CSF1R mutation causing hereditary diffuse leucoencephalopathy with axonal spheroids. Family members presented with neuropsychiatric and behavioural symptoms, with subsequent development of motor symptoms and gait disturbance. MRI brain showed extensive white matter change with a frontal...
journal_title：Journal of the neurological sciences
pub_type： 杂志文章
doi：10.1016/j.jns.2013.06.007
更新日期：2013-09-15 00:00:00
abstract：:Adoptive transfer of experimental allergic encephalomyelitis (EAE) was achieved in Lewis rats using spleen cells incubated in vitro with various lectins. When stimulated with concanavalin A (Con A), its derivative succinyl-Con A, Lens culinaris or Pisum sativum agglutinin, spleen cells obtained from rats immunized wit...
journal_title：Journal of the neurological sciences
pub_type： 杂志文章
doi：10.1016/0022-510x(84)90014-5
更新日期：1984-11-01 00:00:00
abstract：BACKGROUND:Cerebral autosomal dominant arteriopathy with subcortical infarcts and leukoencephalopathy (CADASIL) is a hereditary disorder caused by NOTCH3 mutations, usually localized to exons 3 and 4, and characterized by recurrent subcortical infarctions, dementia and leukoencephalopathy. So far, there has been only l...
journal_title：Journal of the neurological sciences
pub_type： 杂志文章
doi：10.1016/j.jns.2006.02.011
更新日期：2006-07-15 00:00:00
abstract：:Menkes' disease is an inherited disturbance of copper metabolism. Addition of copper to the medium of cultured fibroblasts and lymphoblasts from patients with Menkes' disease results in an increased induction of metallothionein. We investigated the metallothionein induction in response to copper and zinc in muscle cel...
journal_title：Journal of the neurological sciences
pub_type： 杂志文章
doi：10.1016/0022-510x(90)90012-c
更新日期：1990-12-01 00:00:00
