Abstract:
:By observing the effect of 0.08 and 0.02 mg/ml linoleic acid (LA on the electrophoretic mobility of fresh red blood cells derived from the parents of a subject with DMD, it has been shown that all of 16 fathers as well as 15 mothers, consistently differ from normal. In normal subjects, whilst 0.08 mg/ml LA causes increased mobility, 0.02 mg/ml causes reduced mobility (P less than 0.001). In both parents this reversal is abolished and 0.02 mg/ml LA gives the same increased electrophoretic mobility of the RBC as does 0.08 mg/ml. This indicates that there is qualitative alteration of the RBC membrane in both, apparently genetically determined. Only when such an abnormal male mates with an abnormal female can DMD occur in a male offspring; other children appear either normal or showing the same abnormality as do the parents, thus continuing the production of DMD parents, the chance mating of whom produces further DMD. The evidence supports the hypothesis that in DMD there is a widespread membrane disturbance. Other relatives have also been explored. It would appear that the common DMD of children is of autosomal recessive origin with strong limitation to the male.
journal_name
J Neurol Scijournal_title
Journal of the neurological sciencesauthors
Field EJ,Joyce Gdoi
10.1016/0022-510x(87)90021-9subject
Has Abstractpub_date
1987-12-01 00:00:00pages
245-55issue
1-3eissn
0022-510Xissn
1878-5883pii
0022-510X(87)90021-9journal_volume
82pub_type
杂志文章abstract::The excitotoxin kainic acid (10 nmol/microliter) was used to produce bilateral lesions in the nucleus basalis magnocellularis (NBM) of rats which provides extensive cholinergic innervation to the cerebral cortex. The behavioral effects of physostigmine, THA (9-amino-1,2,3,4-tetrahydroacridine hydrochloride) and NIK-24...
journal_title:Journal of the neurological sciences
pub_type: 杂志文章
doi:10.1016/0022-510x(89)90041-5
更新日期:1989-03-01 00:00:00
abstract::In an attempt to obtain insight into the pathogenesis of proteolipid apoprotein (PLP)-induced experimental allergic encephalomyelitis (EAE) in Lewis rats (Yamamura et al. 1986), PLP-sensitized lymph node cells or spleen cells were passively transferred into normal or irradiated (400 rad) recipients after incubation wi...
journal_title:Journal of the neurological sciences
pub_type: 杂志文章
doi:10.1016/0022-510x(86)90174-7
更新日期:1986-12-01 00:00:00
abstract::The purpose of this study is to compare the therapeutic effects between autologous and allogenic bone-marrow-derived mesenchymal stem cell (MSC) transplantation in experimentally-induced spinal cord injury (SCI) of dogs. Thirty adult Beagle dogs (control group=10, autologous group=10, and allogenic group=10) were used...
journal_title:Journal of the neurological sciences
pub_type: 杂志文章
doi:10.1016/j.jns.2009.05.027
更新日期:2009-10-15 00:00:00
abstract::The presence of postural disturbance in patients with Parkinson's disease (PD) was assessed by the displacement of the centre of foot pressure (CFP) and by changes in the amplitude of the soleus H-reflex when patients maintained an upright standing posture, followed by a forward-leaning posture. Thirteen patients and ...
journal_title:Journal of the neurological sciences
pub_type: 临床试验,杂志文章
doi:10.1016/s0022-510x(97)00175-5
更新日期:1997-12-09 00:00:00
abstract::Recently, TAR DNA-binding protein of 43-kDa (TDP-43) was identified as a major component of ubiquitinated neuronal cytoplasmic inclusions observed in lower motor neurons in amyotrophic lateral sclerosis (ALS) and frontotemporal lobar degeneration with ubiquitinated inclusions. We herein investigated the relationship b...
journal_title:Journal of the neurological sciences
pub_type: 杂志文章
doi:10.1016/j.jns.2007.12.016
更新日期:2008-06-15 00:00:00
abstract::Electron microscopical (EM) studies were carried out on the retinas of 2-3-(baby), 12-, 14- and 21-28-day-old (adult) mice infected with avirulent (A774) Semliki Forest virus (SFV). Virions (mature virus), spherules and advanced stages of virus replication, cytopathic vacuoles type II (CPV II), were seen in the retina...
journal_title:Journal of the neurological sciences
pub_type: 杂志文章
doi:10.1016/0022-510x(88)90038-x
更新日期:1988-05-01 00:00:00
abstract::Nutritional deficiency may be the cause of a genuine optic neuropathy, sometimes associated with involvement of the peripheral nervous system. Nutritional optic neuropathies are usually bilateral, painless, chronic, insidious and slowly progressive. Most often, they present as a non-specific retrobulbar optic neuropat...
journal_title:Journal of the neurological sciences
pub_type: 杂志文章,评审
doi:10.1016/j.jns.2007.06.038
更新日期:2007-11-15 00:00:00
abstract::In-situ hybridization with labeled oligonucleotide probes was applied to explore cytokine and chemokine mRNA expression in sections of striated muscle, the target organ in experimental autoimmune myasthenia gravis (EAMG), induced in Lewis rats by immunization with acetylcholine receptor (AChR) and complete Freund's ad...
journal_title:Journal of the neurological sciences
pub_type: 杂志文章
doi:10.1016/s0022-510x(98)00181-6
更新日期:1998-11-26 00:00:00
abstract::Etiology and source of amyloid deposition in senile plaques of Alzheimer's disease (AD) are still unknown. In order to know whether or not fibronectin (Fn), an adhesive glycoprotein, is related to the amyloid deposition in the senile plaque, we conducted immunohistochemical studies using polyclonal anti-Fn and affinit...
journal_title:Journal of the neurological sciences
pub_type: 杂志文章
doi:10.1016/0022-510x(88)90031-7
更新日期:1988-05-01 00:00:00
abstract:OBJECTIVE:To determine the influence of different factors on test-retest reliability of frequently used transcranial magnetic stimulation (TMS) parameters while controlling for potential confounders in healthy subjects. METHODS:TMS was applied in 93 healthy volunteers (61% male) twice (mean retest interval of 34.0 ± 2...
journal_title:Journal of the neurological sciences
pub_type: 杂志文章
doi:10.1016/j.jns.2016.01.039
更新日期:2016-03-15 00:00:00
abstract::There is ample evidence of an important role of descending serotonergic projections in modulating spinal motor neuron activation and firing, and experimental studies suggest that 5-HT receptor stimulation can improve motor function after spinal cord injury; however, relevant clinical data is sorely lacking. We describ...
journal_title:Journal of the neurological sciences
pub_type: 杂志文章
doi:10.1016/j.jns.2017.04.047
更新日期:2017-07-15 00:00:00
abstract:OBJECTIVE:Sweating on the palms of the hands and soles of the feet, so-called emotional sweating, is considered to be mediated by the limbic system, including the amygdala and anterior cingulate cortex. To reveal involvement of the limbic system in emotional sweating, we evaluated emotional sweating on the palms in pat...
journal_title:Journal of the neurological sciences
pub_type: 杂志文章
doi:10.1016/j.jns.2011.04.007
更新日期:2011-07-15 00:00:00
abstract::Findings in a sural nerve biopsy from a patient with rheumatoid neuropathy are reported. Inflammatory changes in different stages were observed in epineurial arterioles. Arterioles with fibrinoid necrosis contained IgG, IgM, rheumatoid factor and complement. The same substances were found at the inner site of the peri...
journal_title:Journal of the neurological sciences
pub_type: 杂志文章
doi:10.1016/0022-510x(77)90128-9
更新日期:1977-09-01 00:00:00
abstract::Outcome after aSAH depends on several factors, including the severity of the initial event, perioperative medical management, surgical variables, and the incidence of complications. Cerebral vasospasm (CV) is ure to consistently respond to treatment, emphasizing the need for further research into the underlying mechan...
journal_title:Journal of the neurological sciences
pub_type: 杂志文章,评审
doi:10.1016/j.jns.2007.04.046
更新日期:2007-10-15 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::Alterations in short- and long-latency components of median and tibial somatosensory evoked potentials (SEPs) were studied in patients with lesions in the thalamus and thalamo-cortical radiations. When the lesions were located primarily in the ventro-posterior thalamus, the SEP changes consisted of the following combi...
journal_title:Journal of the neurological sciences
pub_type: 杂志文章
doi:10.1016/0022-510x(86)90169-3
更新日期:1986-12-01 00:00:00
abstract::During postnatal development of the higher vertebrate CNS, large populations of oligodendroglia are generated from precursor cells in a very dependable way. In adult lesioned CNS tissues, local populations of oligodendroglia are replenished by proliferation of this replenishment varies from one species to another and ...
journal_title:Journal of the neurological sciences
pub_type: 杂志文章,评审
doi:10.1016/0022-510x(86)90019-5
更新日期:1986-02-01 00:00:00
abstract:BACKGROUND AND PURPOSE:Supratentorial stroke can cause conjugate eye deviation directed contralateral to the affected side (wrong-way deviation). It is rare and thought to be associated exclusively with hemorrhagic stroke. We prospectively investigated the clinical features and prognostic significance of this wrong-way...
journal_title:Journal of the neurological sciences
pub_type: 杂志文章
doi:10.1016/j.jns.2011.06.010
更新日期:2011-09-15 00:00:00
abstract::Few data exist on the effects of specific Alzheimer's disease (AD)-related mutations on cognitive function. We present neuropsychological test results in eight members of a large kindred with variant Alzheimer's disease (VarAD) due to a deletion of the presenilin 1 (PS-1) gene, encompassing exon 9. The disease was neu...
journal_title:Journal of the neurological sciences
pub_type: 杂志文章
doi:10.1016/j.jns.2003.10.020
更新日期:2004-03-15 00:00:00
abstract::Arteriolosclerotic leucoencephalopathy in the elderly (ALE) is characterized by white matter lesions associated with atherosclerosis and arteriolosclerosis. Mild lesions are focal and probably represent early status cribosus or incomplete lacunar infarcts. Moderate and severe lesions are diffuse areas of demyelination...
journal_title:Journal of the neurological sciences
pub_type: 杂志文章
doi:10.1016/0022-510x(90)90180-u
更新日期:1990-08-01 00:00:00
abstract::An expanded hexanucleotide repeat in the chromosome 9 open reading frame 72 (C9ORF72), on chromosome 9p21, has recently been identified as a major cause of familial frontotemporal dementia (FTD). The neuropathology and clinical characteristics associated with C9ORF72 mutations are heterogeneous with the unknown pathom...
journal_title:Journal of the neurological sciences
pub_type: 杂志文章,评审
doi:10.1016/j.jns.2013.09.013
更新日期:2013-12-15 00:00:00
abstract:OBJECTIVE:This study reviewed our experience in treating patients with vestibular schwannoma (VS) who had acute sensorineural hearing loss (ASHL) early after radiosurgery. PATIENTS AND METHODS:Seventy VS patients underwent cyberknife radiosurgery. Of them, 6 patients had ASHL early (<6 m) after radiosurgery (Group A),...
journal_title:Journal of the neurological sciences
pub_type: 杂志文章
doi:10.1016/j.jns.2019.02.008
更新日期:2019-04-15 00:00:00
abstract:OBJECTIVE:The etiology and outcome of pediatric stroke differs in different geographical regions and there is no comprehensive study from India. This study evaluates the etiology, type and predictors of outcome of pediatric stroke from Northern India. METHODS:79 stroke patients aged 1month to 18years managed during 20...
journal_title:Journal of the neurological sciences
pub_type: 杂志文章
doi:10.1016/j.jns.2012.11.020
更新日期:2013-02-15 00:00:00
abstract::The relationship between blood pressure(BP) and clinical outcome in patients with acute stroke is still controversial. The present study aimed to elucidate the impact of admission blood pressure on mortality in patients with acute stroke of different subtypes. Data were from ChinaQUEST (QUality Evaluation of Stroke Ca...
journal_title:Journal of the neurological sciences
pub_type: 杂志文章,多中心研究
doi:10.1016/j.jns.2017.09.032
更新日期:2017-12-15 00:00:00
abstract::HIV-associated distal sensory polyneuropathy (DSP), with or without neuropathic symptoms, can develop after anti-retroviral therapy (ART). Symptoms frequently involve small fibres but reports on autonomic dysfunction in HIV-DSP are sparse. We studied an HIV-infected cohort after 5 years of ART, and report on the frequ...
journal_title:Journal of the neurological sciences
pub_type: 杂志文章
doi:10.1016/j.jns.2019.116451
更新日期:2019-11-15 00:00:00
abstract::The outcome of outpatient neurologic consultations has not been previously evaluated. There is also no data regarding patients' perceptions of outpatient neurologic consultations. In this study, we assessed the physician's evaluations of the outcome and utility of neurologic consultations by reviewing office records o...
journal_title:Journal of the neurological sciences
pub_type: 杂志文章
doi:10.1016/j.jns.2008.09.036
更新日期:2009-01-15 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::We have analyzed the serum from patients with refractory epilepsy for the presence of autoreactive antibodies to AMPA glutamate receptor subunits. The presence and the level of autoantibodies were assessed using immunoblot and ELISA with synthetic peptides specific for subregions of AMPA glutamate receptor subunits. P...
journal_title:Journal of the neurological sciences
pub_type: 杂志文章
doi:10.1016/s0022-510x(97)00150-0
更新日期:1997-11-06 00:00:00
abstract::In addition to neuritic changes and amyloid deposits, neuronal and glial cell apoptosis is an important pathological feature of Alzheimer's disease (AD). Several factors have been postulated as causes or triggers of cellular apoptotic change. This study focused on a quantifiable relationship between phosphorylation si...
journal_title:Journal of the neurological sciences
pub_type: 杂志文章
doi:10.1016/s0022-510x(02)00410-0
更新日期:2003-04-15 00:00:00
abstract::There is little information available on the number of patients with movement disorders seen by physicians in Thailand. The authors reviewed the medical records of all movement disorders patients seen at the Chulalongkorn Comprehensive Movement Disorders Center (CUMDS) in Bangkok, Thailand over a 4.5-year period to de...
journal_title:Journal of the neurological sciences
pub_type: 杂志文章
doi:10.1016/j.jns.2010.11.010
更新日期:2011-02-15 00:00:00