Abstract:
:We have investigated protein expression and genotype in 59 Becker muscular dystrophy (BMD) patients. The aim was to identify possible causes of the marked variability in phenotype in patients with similar deletions/mutations. The patients were examined neurologically and functionally and underwent Manual Muscle Testing. Dystrophin expression was analysed by immunohistochemistry and western blot using antibodies against six different segments of the protein. DNA mutations were investigated by PCR amplification of 30 exons. Based on dystrophin expression at the sarcolemma, two groups of patients were identified: group A (29 patients) with the classic patchy distribution of dystrophin and group B (30 patients) with absence or reduction of one or more dystrophin portions and variable, although mostly normal, expression of the other portions of the protein. Dystrophin molecular weight was normal or slightly reduced in group A and was variably reduced, generally conspicuously so, in group B. The quantity of dystrophin expressed varied markedly in both groups. The pattern of immunohistochemical staining in group B patients correlated with milder clinical phenotype, suggesting that small dystrophin molecules lacking a portion in the N-terminus or in the rod domain, are more functional than proteins with normal or slightly reduced molecular weight that display the BMD-typical patchy distribution at the sarcolemma.
journal_name
J Neurol Scijournal_title
Journal of the neurological sciencesauthors
Morandi L,Mora M,Confalonieri V,Barresi R,Di Blasi C,Brugnoni R,Bernasconi P,Mantegazza R,Dworzak F,Antozzi Cdoi
10.1016/0022-510x(95)00147-tsubject
Has Abstract,Author List Incompletepub_date
1995-10-01 00:00:00pages
146-55issue
2eissn
0022-510Xissn
1878-5883pii
0022510X9500147Tjournal_volume
132pub_type
临床试验,杂志文章abstract:BACKGROUND:Intravenous rt-PA is effective in hyperacute ischemic stroke (HAIS) but is administered only in few patients. OBJECTIVES:To report the thrombolysis rate in our stroke unit using a stroke code (SC) protocol with a prenotification system and to analyze the SC impact on the thrombolysis rate in a systematic re...
journal_title:Journal of the neurological sciences
pub_type: 杂志文章,meta分析
doi:10.1016/j.jns.2011.10.009
更新日期:2012-03-15 00:00:00
abstract:BACKGROUND:Global cerebral ischemia followed by reperfusion, leads to extensive neuronal damage, particularly the neurons in the hippocampal CA region. Recent studies have demonstrated that pharmacological agents, such as Nigella sativa L. (Ranunculaceae) that is an annual herbaceous flowering plant, given at the time ...
journal_title:Journal of the neurological sciences
pub_type: 杂志文章
doi:10.1016/j.jns.2013.11.019
更新日期:2014-02-15 00:00:00
abstract::Noninvasive ventilatory assistance, in ALS patients, with the bilevel intermittent positive air pressure (Bipap) was studied, in a prospective and controlled trial, by the authors. Twenty ALS bulbar patients, fulfilling El Escorial criteria for probable or definite disease, were selected. For the follow-up all patient...
journal_title:Journal of the neurological sciences
pub_type: 临床试验,杂志文章,随机对照试验
doi:10.1016/0022-510x(95)00052-4
更新日期:1995-05-01 00:00:00
abstract::The activity of gamma-glutamyl transpeptidase (gamma-GT), a membrane-bound enzyme, was assayed by a sensitive fluorometric method in the brain, heart, kidney, liver, skeletal muscle and serum of normal and dystrophic hamsters and mice. Normal and dystrophic hamsters were of the golden brown and BIO 14.6 line respectiv...
journal_title:Journal of the neurological sciences
pub_type: 杂志文章
doi:10.1016/0022-510x(77)90130-7
更新日期:1977-09-01 00:00:00
abstract::The muscarinic acetylcholine receptors were identified in membrane preparations from human tissues by the specific binding of 1-[benzilic-4,4'-3H] quinuclidinyl benzilate. Saturation binding isotherms of this radioligand yielded a total amount of receptors of 435 +/- 208, 159 +/- 65 and 913 +/- 89 fmol/mg protein, res...
journal_title:Journal of the neurological sciences
pub_type: 杂志文章
doi:10.1016/0022-510x(90)90099-9
更新日期:1990-06-01 00:00:00
abstract::The findings of various studies reporting temporal changes in CSF total nitrite/nitrate (NOx) levels after subarachnoid hemorrhage (SAH) vary considerably. The study group comprised 10 patients with SAH and 10 control subjects. Total nitrite/nitrate concentration was measured by a vanadium-based assay with the colorim...
journal_title:Journal of the neurological sciences
pub_type: 杂志文章
doi:10.1016/j.jns.2003.12.011
更新日期:2004-04-15 00:00:00
abstract::Familial hemiplegic migraine type 1, spinocerebellar ataxia type 6 (SCA6) and episodic ataxia type 2 (EA2) are allelic disorders associated with mutations in the CACNA1A gene, which encodes the alpha1 subunit of the P/Q-type calcium channel (Ca(V)2.1). SCA6 and EA2 share a number of clinical features, such as prominen...
journal_title:Journal of the neurological sciences
pub_type: 杂志文章
doi:10.1016/j.jns.2007.01.008
更新日期:2007-03-15 00:00:00
abstract:BACKGROUND:The Oxfordshire Community Stroke Project (OCSP) classification is a simple tool to categorize clinical stroke syndromes. We compared the outcomes of stroke patients after intravenous thrombolysis stratified by the baseline National Institutes of Health Stroke Scale (NIHSS) score or by the OCSP classification...
journal_title:Journal of the neurological sciences
pub_type: 杂志文章
doi:10.1016/j.jns.2012.10.003
更新日期:2013-01-15 00:00:00
abstract::Four unrelated patients are reported with muscle hypotonia, weakness, skeletal dysmorphism and respiratory insufficiency since childhood. Muscle tissues were found to contain a number of muscle fibres with abnormal structure. Peripherally located structures such as a cap lacking in ATP-ase and fast myosin activity, ri...
journal_title:Journal of the neurological sciences
pub_type: 杂志文章
doi:10.1016/s0022-510x(02)00156-9
更新日期:2002-09-15 00:00:00
abstract::The effect of membrane plasma exchange on the course of chronic experimental allergic neuritis in rabbits is described. Using miniature membrane plasma separators conscious animals were treated with 4 exchanges over 5 days removing one plasma volume per procedure and using a non-immunogenic gelatin plasma solution as ...
journal_title:Journal of the neurological sciences
pub_type: 杂志文章
doi:10.1016/0022-510x(88)90218-3
更新日期:1988-12-01 00:00:00
abstract::The fibre composition of functionally different regions, the superficial and the deep portions, of the human masseter and the biceps brachii muscles of six elderly subjects (mean age 74 years) was studied by morphological and enzyme-histochemical methods. When compared to previous data for young adults, the masseter m...
journal_title:Journal of the neurological sciences
pub_type: 杂志文章
doi:10.1016/s0022-510x(97)00208-6
更新日期:1998-01-21 00:00:00
abstract::The scalp distribution of the response to stimulation of the tibial nerve at the medial malleolus was systematically analysed. The somatosensory evoked potential (SEP) was recorded with electrodes placed in a transversal line over the ipsilateral and contralateral postcentral gyri and in a sagittal line over the longi...
journal_title:Journal of the neurological sciences
pub_type: 杂志文章
doi:10.1016/0022-510x(83)90038-2
更新日期:1983-05-01 00:00:00
abstract:BACKGROUND:Intracranial hemorrhage (ICH) is the most common neurologic complication of reversible cerebral vasoconstriction syndrome (RCVS). In this study, we compared hemorrhagic and non-hemorrhagic RCVS with an aim to evaluate the risk factors and short-term clinical outcomes of hemorrhagic lesions. METHODS:We used ...
journal_title:Journal of the neurological sciences
pub_type: 杂志文章
doi:10.1016/j.jns.2021.117312
更新日期:2021-01-07 00:00:00
abstract::A 70-year-old woman had complex behavioural changes of sudden onset. The symptoms consisted of indifference, docility and inappropriate urination, but predominantly in a lack of attention. She was unable to maintain the attention necessary to perform a goal-directed activity and she was distracted by any stimulus, suc...
journal_title:Journal of the neurological sciences
pub_type: 杂志文章
doi:10.1016/0022-510x(81)90107-6
更新日期:1981-08-01 00:00:00
abstract:PURPOSE:This study aimed to develop a conceptual understanding of the specific characteristics of palliative care in neurology and the challenges of providing palliative care in the setting of neurological illness. METHOD:The study was conducted at London Health Sciences Centre in Canada using grounded theory methodol...
journal_title:Journal of the neurological sciences
pub_type: 杂志文章
doi:10.1016/j.jns.2017.12.008
更新日期:2018-02-15 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:BACKGROUND:Insulin-like growth factor-I (IGF-I) has been shown to protect against stroke in rats when administered intracerebroventricularly. However, this invasive method of administration is not practical for the large number of individuals who require treatment for stroke. Intranasal (IN) delivery offers a noninvasi...
journal_title:Journal of the neurological sciences
pub_type: 杂志文章
doi:10.1016/s0022-510x(01)00532-9
更新日期:2001-06-15 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
abstract:BACKGROUND:We hypothesized that physical activity (PA), which is often associated with reduced risk of ischemic stroke, may also be associated with reduced risk of subclinical cerebral infarcts. OBJECTIVES:We studied the cross-sectional association between PA and subclinical cerebral infarcts among African-Americans i...
journal_title:Journal of the neurological sciences
pub_type: 杂志文章,多中心研究
doi:10.1016/j.jns.2009.04.011
更新日期:2009-09-15 00:00:00
abstract:BACKGROUNDS:Although prevention of hematoma enlargement and thromboembolic complications is critically important in acute intracerebral hemorrhage (ICH) patients with prosthetic heart valves, clinical data are scarce. The goal of this study was to elucidate patient characteristics, acute treatments, and the clinical co...
journal_title:Journal of the neurological sciences
pub_type: 杂志文章
doi:10.1016/j.jns.2016.02.033
更新日期:2016-04-15 00:00:00
abstract::Vitamin B1- and B-deficient encephalopathy was produced in adult Wistar rats and the effect of methylcobalamin was studied. These experiments were performed in vitamin B1- or B-deficient rats with or without the administration of guanidine, a magnesium antagonist. These encephalopathic rats showed symmetrical lesions ...
journal_title:Journal of the neurological sciences
pub_type: 杂志文章
doi:10.1016/0022-510x(87)90210-3
更新日期:1987-01-01 00:00:00
abstract::Reversible cerebral vasoconstriction syndrome (RCVS) is characterized by segmental vasoconstriction and dilatation of intracranial arteries, usually revealed by headaches, which spontaneously resolve in few weeks. We report a patient with RCVS, revealed by thunderclap headaches, involving both internal and external ca...
journal_title:Journal of the neurological sciences
pub_type: 杂志文章
doi:10.1016/j.jns.2011.09.033
更新日期:2012-02-15 00:00:00
abstract::Muscle biopsies were obtained from the vastus lateralis of 14 male subjects: 3 long distance runners, 2 world class power lifters and 9 active, although not highly trained, individuals used as controls. The fibers were investigated by electron microscopy and the mitochondrial volume percent, lipid volume percent and Z...
journal_title:Journal of the neurological sciences
pub_type: 杂志文章
doi:10.1016/0022-510x(81)90076-9
更新日期:1981-02-01 00:00:00
abstract::Psychiatric disorders seem to be more frequent in patients with epilepsy (PWE) than the general population. Although researchers have documented a strong association between epilepsy and psychiatric comorbidities, the nature of this relationship is poorly understood. According to this, psychiatric diseases are often u...
journal_title:Journal of the neurological sciences
pub_type: 杂志文章,评审
doi:10.1016/j.jns.2014.05.043
更新日期:2014-08-15 00:00:00
abstract:BACKGROUND:There is little information about intracranial atherosclerotic disease (ICAD) and extracranial atherosclerotic disease (ECAD) in patients with acute spontaneous intracerebral hemorrhage (ICH). The purpose of the present study was to elucidate the prevalence of and the factors that correlate with ICAD and ECA...
journal_title:Journal of the neurological sciences
pub_type: 杂志文章
doi:10.1016/j.jns.2013.06.031
更新日期:2013-09-15 00:00:00
abstract::Since Alzheimer's disease (AD) is becoming the prevalent dementia in the whole world, more underlying mechanisms are emerging. Long time has the transcription factor NF-κB been identified to participate in AD pathogenesis, various studies have focused on the causes and effects of AD that are linked to NF-κB. In this r...
journal_title:Journal of the neurological sciences
pub_type: 杂志文章,评审
doi:10.1016/j.jns.2016.05.022
更新日期:2016-07-15 00:00:00
abstract::We present an uncommon case of a 38-year-old man presented with bilateral subacute weakness of intrinsic hand muscles, manifesting as bilateral claw-hand, without sensory deficits and absent tendon reflexes in upper arms. Nerve conduction studies showed findings consistent with demyelinating GBS. During the fourth day...
journal_title:Journal of the neurological sciences
pub_type: 杂志文章
doi:10.1016/j.jns.2013.07.009
更新日期:2013-11-15 00:00:00
abstract::Long-term fluctuations of the heart rate have an important prognostic impact after myocardial infarction, in patients with chronic heart failure and even in elderly subjects. Autonomic dysfunction is a common complication in patients with Guillain-Barré syndrome, and particularly vagally-mediated bradyarrhythmias requ...
journal_title:Journal of the neurological sciences
pub_type: 临床试验,杂志文章
doi:10.1016/s0022-510x(99)00096-9
更新日期:1999-06-01 00:00:00
abstract::The aim of the present study was to investigate the involvement of frontal lobe dysfunction in amyotrophic lateral sclerosis (ALS) using ocular motor paradigms and neuropsychological testing. Fifty-one patients with ALS participated in the following ocular motor tasks: (1) a three-choice task and (2) a remembered sacc...
journal_title:Journal of the neurological sciences
pub_type: 杂志文章
doi:10.1016/s0022-510x(01)00683-9
更新日期:2002-03-15 00:00:00
abstract::Leucine-rich repeats and immunoglobulin-like domains (LRIG) 3 gene is mapped to chromosome 12q13.2, a region that is frequently deleted in a subset of glioblastoma multiforme (GBM). It has been reported that perinuclear LRIG3 staining correlated with low WHO grade of glioma and better survival of the patients. However...
journal_title:Journal of the neurological sciences
pub_type: 杂志文章
doi:10.1016/j.jns.2015.02.015
更新日期:2015-03-15 00:00:00