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 limited information about CADASIL in Chinese population. OBJECTIVES:To analyze the NOTCH3 mutations in ethnic Chinese in Taiwan with clinically suspected CADASIL and to characterize their clinical and molecular features. METHODS:Mutation analysis of NOTCH3 by direct nucleotide sequencing was performed in eight unrelated Chinese patients with clinically suspected CADASIL. Skin biopsy with ultrastructural studies by electronic microscopy was performed in four patients. RESULTS:Five NOTCH3 mutations, S118C, R141C, R332C, R544C and C977S, respectively, were identified from five patients, of which S118C and C977S are novel. None of these nucleotide sequence variations could be found among 50 healthy controls. Among the five mutations, two were in exon 4, and the other three were in exons 6, 11 and 18, respectively. Skin biopsy showed the presence of characteristic granular osmiophilic material only in the patient with the NOTCH3 mutation of R332C. CONCLUSION:Our study demonstrated the clinical and molecular features of CADASIL in Chinese patients and broadened the spectrum of NOTCH3 mutations. Lack of evidence of a strong clustering of mutations in a particular exon tentatively suggests that a comprehensive screening of NOTCH3 mutation is still necessary for molecular diagnosis of CADASIL in Chinese population.
journal_name
J Neurol Scijournal_title
Journal of the neurological sciencesauthors
Lee YC,Yang AH,Liu HC,Wong WJ,Lu YC,Chang MH,Soong BWdoi
10.1016/j.jns.2006.02.011subject
Has Abstractpub_date
2006-07-15 00:00:00pages
111-5issue
1-2eissn
0022-510Xissn
1878-5883pii
S0022-510X(06)00057-8journal_volume
246pub_type
杂志文章abstract:OBJECTIVE:Although there is evidence for a pathogenic role of humoral factors in multifocal motor neuropathy (MMN), plasma exchange (PE) is assumed to be an ineffective treatment. We set out to elucidate possible reasons for this apparent contradiction. METHODS:A retrospective analysis of seven patients with MMN, who ...
journal_title:Journal of the neurological sciences
pub_type: 临床试验,杂志文章
doi:10.1016/j.jns.2008.02.022
更新日期:2008-08-15 00:00:00
abstract::Nitric oxide (NO) may be involved in myelin and oligodendrocyte injury associated with multiple sclerosis (MS), a demyelinating disease of unknown etiology. The cerebrospinal fluid (CSF) from MS patients may provide an important signal inducing a pathologic process within the central nervous system (CNS). To investiga...
journal_title:Journal of the neurological sciences
pub_type: 杂志文章
doi:10.1016/0022-510x(96)00164-5
更新日期:1996-10-01 00:00:00
abstract:OBJECTIVE:To assess age-, gender, and subtype-specific incidence rates of dementia in three populations in central Spain using data from the Neurological Disorders in Central Spain (NEDICES), a population-based survey of elderly participants. METHODS:Individuals were evaluated at baseline (1994-1995) and at follow-up ...
journal_title:Journal of the neurological sciences
pub_type: 杂志文章
doi:10.1016/j.jns.2007.07.021
更新日期:2008-01-15 00:00:00
abstract::We report median and digital nerve somatosensory evoked potentials (SEPs) in 14 patients with probable progressive supranuclear palsy (PSP) along with transcortical long-loop reflexes, motor evoked potentials, and auditory startle responses. Enlarged cortical responses were found in 14 median and 13 digital nerve SEP ...
journal_title:Journal of the neurological sciences
pub_type: 杂志文章
doi:10.1016/s0022-510x(00)00383-x
更新日期:2000-10-01 00:00:00
abstract::Neuropathological evidence of demyelination was found in the brain and sciatic nerve of diabetic patients at autopsy. The activity of acid proteinase was somewhat increased in the white matter but decreased in the gray matter of diabetic patients. No increase was observed in the activity of neutral proteinase in diabe...
journal_title:Journal of the neurological sciences
pub_type: 杂志文章
doi:10.1016/0022-510x(77)90191-5
更新日期:1977-08-01 00:00:00
abstract::Based on the assumption that brain ischemia and hypoxia are central causes of brain damage, the maintenance of an adequate tissue oxygenation is a primary objective in the field of neurocritical care. Thus, monitoring brain tissue oxymetry, allowing the possibility to discriminate between normal and critically impaire...
journal_title:Journal of the neurological sciences
pub_type: 杂志文章,评审
doi:10.1016/j.jns.2007.04.026
更新日期:2007-10-15 00:00:00
abstract::Multiple sclerosis is a chronic inflammatory disease of the white and grey matter which results in irrevocable axonal and neuronal damage. Grey matter injury is widespread and reflects disability to a greater extent than do white matter lesions. Growing understanding of the immunopathology of multiple sclerosis is lea...
journal_title:Journal of the neurological sciences
pub_type: 杂志文章
doi:10.1016/S0022-510X(11)70003-X
更新日期:2011-12-01 00:00:00
abstract:BACKGROUND:Antiplatelet therapies for secondary prevention of ischemic stroke or transient ischemic attack (TIA) is a highly active research topic with five critical drugs obtained by visual analysis. We aimed to compare and rank multiple antiplatelet therapies using a network meta-analysis. METHODS:Relevant medical d...
journal_title:Journal of the neurological sciences
pub_type: 杂志文章,meta分析
doi:10.1016/j.jns.2019.02.037
更新日期:2019-04-15 00:00:00
abstract::We recently detected varicella zoster virus (VZV) in the temporal arteries (TA) of 5/24 patients with clinically suspect giant cell arteritis (GCA) whose TAs were GCA-negative pathologically; in those GCA-negative, VZV+TAs, virus antigen predominated in the arterial adventitia, but without medial necrosis and multinuc...
journal_title:Journal of the neurological sciences
pub_type: 杂志文章
doi:10.1016/j.jns.2013.09.034
更新日期:2013-12-15 00:00:00
abstract:INTRODUCTION:Cerebral infarction secondary to Aspergillus arteritis or septic embolism is an exceptional finding. We present a case of multiple systemic embolism and cerebral infarction resulting from Aspergillus aortitis in an immunocompetent patient. PATIENT:A 65-year-old male with hypertension, hyperglycaemia and m...
journal_title:Journal of the neurological sciences
pub_type: 杂志文章
doi:10.1016/j.jns.2009.04.037
更新日期:2009-09-15 00:00:00
abstract::A method has been adapted to produce membrane vesicles suitable for routine membrane patch clamping from neonate rat skeletal muscle. Single K+ channel activity was recorded from cell-free inside-out patches. Most Ca2(+)-activated voltage sensitive channels had large conductances of up to 300 pS, as determined from th...
journal_title:Journal of the neurological sciences
pub_type: 杂志文章
doi:10.1016/0022-510x(90)90142-a
更新日期:1990-05-01 00:00:00
abstract::Myorhythmia, characterized by relatively rhythmic and regular 1- to 3-Hz muscle contractions, may involve isolated limbs or in combination with other various body regions. Isolated facial myorhythmia is rare. We highlight the clinical and electrophysiologic features of a unique case of isolated facial myorhythmia. Ext...
journal_title:Journal of the neurological sciences
pub_type: 杂志文章
doi:10.1016/j.jns.2006.10.009
更新日期:2007-01-15 00:00:00
abstract::High plasma homocysteine (tHcy) is a risk factor for cardiovascular disease and stroke and Alzheimer's disease (AD). An inverse relationship has been reported between tHcy and plasma B12 and folate levels. Seventy-nine AD patients and 156 controls from three Arab villages in northern Israel participated. Plasma tHcy, ...
journal_title:Journal of the neurological sciences
pub_type: 杂志文章
doi:10.1016/j.jns.2004.08.011
更新日期:2004-12-15 00:00:00
abstract:BACKGROUND AND PURPOSE:It is well known that inflammation influence chronic subdural hematoma (CSDH) formation to a large extent. Atorvastatin has pleiotropic effects on restraining inflammation and promoting angiogenesis besides its cholesterol-lowering function. Hence, atorvastatin may induce anti-inflammation effect...
journal_title:Journal of the neurological sciences
pub_type: 杂志文章
doi:10.1016/j.jns.2014.04.009
更新日期:2014-06-15 00:00:00
abstract:BACKGROUND:Fatigue is a common non-motor symptom in Parkinson's disease patients. The reasons for its perception are not completely understood. One suggested possibility might be that perceived fatigue is related with abnormal interpretation of somatic symptoms. It has been described that somatic markers misinterpretat...
journal_title:Journal of the neurological sciences
pub_type: 杂志文章
doi:10.1016/j.jns.2013.12.003
更新日期:2014-02-15 00:00:00
abstract::We investigated superoxide dismutase (SOD) activity in human cerebrospinal fluid (CSF) as an index of the aging process in the central nervous system (CNS). The subjects were 61 individuals aged 21-77 years, comprising 24 men and 37 women without organic disorders of the nervous system. SOD activity in CSF was measure...
journal_title:Journal of the neurological sciences
pub_type: 杂志文章
doi:10.1016/0022-510x(96)00160-8
更新日期:1996-09-15 00:00:00
abstract::Controversy exists regarding the apolipoprotein E (ApoE) epsilon 4 allele association with vascular dementia (VaD). The results range from increased epsilon 4 frequency, similar to that found for Alzheimer's disease (AD), to no association at all. Our objective was to clarify the relationship between ApoE epsilon 4 al...
journal_title:Journal of the neurological sciences
pub_type: 临床试验,杂志文章
doi:10.1016/s0022-510x(02)00287-3
更新日期:2002-11-15 00:00:00
abstract::Adult onset cerebral X-ALD (AOCALD) is a rare disease, but should be considered an important differential diagnosis in adults presenting with leukencephalopathy. We here report the case of a 40-year-old man with a history of progressive cognitive decline who presented with a first-time seizure. Initial workup included...
journal_title:Journal of the neurological sciences
pub_type: 杂志文章
doi:10.1016/j.jns.2009.06.012
更新日期:2009-10-15 00:00:00
abstract::129 patients aged 18-84 in early rehabilitation period of the first hemispheric ischemic stroke and 48 patients with cerebrovascular disorders without stroke in anamnesis were observed. Cognitive functions (MMSE, FAB, Clock Drawing Test, the 5-Word test, attention assessment, Semantic Verbal Fluency test) and emotiona...
journal_title:Journal of the neurological sciences
pub_type: 杂志文章
doi:10.1016/j.jns.2012.11.013
更新日期:2013-02-15 00:00:00
abstract::Eclampsia accounts for a third of maternal mortality in developing countries. The neurological manifestations of eclampsia consist of seizures and alteration of sensorium or coma on a background of pre-eclampsia. Occasionally there can be focal neurological deficits too. Recent studies with CT scan and MRI have demons...
journal_title:Journal of the neurological sciences
pub_type: 杂志文章,评审
doi:10.1016/s0022-510x(97)00274-8
更新日期:1998-02-18 00:00:00
abstract::The size and the distribution of type I and tye II fibres was determined in the gluteus maximus (21 cases), gluteus medius (56 cases) and tensor faciae latae (27 cases) muscles of patients with osteoarthritis of the hip. The patients were of both sexes, aged between 37 and 64 years (younger group) and between 65 and 7...
journal_title:Journal of the neurological sciences
pub_type: 杂志文章
doi:10.1016/0022-510x(80)90123-9
更新日期:1980-01-01 00:00:00
abstract::The case of an 18-year-old woman is reported who had developed progressive inability to use her left limbs since the age of 13 years. Ataxic hemiparesis was noted on the left side. A CT scan of the brain revealed a non-enhancing hypodense lesion in the cerebellopontine angle with a supratentorial extension consistent ...
journal_title:Journal of the neurological sciences
pub_type: 杂志文章
doi:10.1016/0022-510x(94)90038-8
更新日期:1994-09-01 00:00:00
abstract::Two young women with ischemic stroke successfully underwent intra-arterial thrombolysis (IAT) 10 and 11h, respectively after stroke onset. A 23-year-old (case 1) and a 22-year-old woman (case 2) who developed severe neurological deficits (NIHSS 20 and 13, respectively) were presented to our hospital 9h after onset of ...
journal_title:Journal of the neurological sciences
pub_type: 杂志文章
doi:10.1016/j.jns.2009.10.003
更新日期:2010-01-15 00:00:00
abstract::We have monitored the cell surface phenotypic changes occurring in T, B and NK cells of chronic progressive multiple sclerosis (MS) patients after total lymphoid irradiation (TLI) plus low-dose prednisone (TLI-LDP) therapy in comparison to sham TLI-LDP. TLI-LDP resulted in a marked reduction in the relative and absolu...
journal_title:Journal of the neurological sciences
pub_type: 临床试验,杂志文章,多中心研究,随机对照试验
doi:10.1016/s0022-510x(97)00156-1
更新日期:1997-11-25 00:00:00
abstract::There is evidence that visuo-spatial capacity can become overloaded when processing a secondary visual task (Dual Task, DT), as occurs in daily life. Hence, we investigated the influence of the visuo-spatial interference in the identification of emotional facial expressions (EFEs) in early stages of Parkinson's diseas...
journal_title:Journal of the neurological sciences
pub_type: 杂志文章
doi:10.1016/j.jns.2011.09.041
更新日期:2012-02-15 00:00:00
abstract::Morphologic alterations in biopsies of central and peripheral nervous tissue were investigated at the light-and electron-microscopic level in the first cases of lysosomal alpha-N-acetylgalactosaminidase deficiency. Widespread spheroid formation was observed in terminal and preterminal axons. Neocortical and peripheral...
journal_title:Journal of the neurological sciences
pub_type: 杂志文章
doi:10.1016/0022-510x(95)00124-k
更新日期:1995-09-01 00:00:00
abstract:OBJECTIVE:To determine the relative contribution of various risk factors to the development of Parkinson's disease (PD). METHODS:Ten variables that were independently associated with PD in a health system population-based case-control study of epidemiological risk factors for the disease were jointly assessed. Stepwis...
journal_title:Journal of the neurological sciences
pub_type: 杂志文章
doi:10.1016/j.jns.2003.09.014
更新日期:2004-02-15 00:00:00
abstract::Friedreich Ataxia (FRDA) is an autosomal recessive neurodegenerative disorder most commonly caused by guanine-adenine-adenine (GAA) trinucleotide repeat expansions in both alleles of the FXN gene. Although progressive ataxia remains the hallmark clinical feature, patients with FRDA are at high risk of developing cardi...
journal_title:Journal of the neurological sciences
pub_type: 杂志文章
doi:10.1016/j.jns.2017.01.027
更新日期:2017-04-15 00:00:00
abstract::The neurobiological mechanisms underlying the development of post-traumatic stress disorder (PTSD) remain elusive. One of the hypotheses is the dysfunction of serotonin (5-HT) neurotransmission, which is critically regulated by serotonin transporter (SERT). Therefore, we hypothesized that attenuation of SERT gene expr...
journal_title:Journal of the neurological sciences
pub_type: 杂志文章
doi:10.1016/j.jns.2015.11.056
更新日期:2016-01-15 00:00:00
abstract::Centronuclear myopathy, like myotonic dystrophy, is characterized by muscle wasting and type 1 fiber atrophy. To determine whether this disorder might include a derangement in carbohydrate metabolism similar to that in myotonic dystrophy, 3 comparably wasted patients with centronuclear myopathy, myotonic dystrophy, an...
journal_title:Journal of the neurological sciences
pub_type: 杂志文章
doi:10.1016/0022-510x(78)90127-2
更新日期:1978-12-01 00:00:00