Abstract:
:We examined muscle biopsies from patients with Duchenne muscular dystrophy (DMD: 39 patients) and Becker muscular dystrophy (BMD: 11 patients), female DMD-carriers (4 patients), and control subjects (26 persons) for the expression of dystrophin and utrophin. Control subjects showed all fibers to be dystrophin-positive, while utrophin staining was negative or weak. On the other hand, muscles from DMD patients showed the inverse staining patterns: dystrophin was negative and utrophin staining strong. Thus, there was a reciprocal pattern of expression between dystrophin and utrophin. This reciprocal relationship was confirmed to some extent at the single-fiber level in female carriers of DMD showing a mosaic immunostaining of dystrophin. We consider that utrophin may have a function similar to that of dystrophin, and compensate to some extent for dystrophin deficiency in DMD.
journal_name
J Neurol Scijournal_title
Journal of the neurological sciencesauthors
Mizuno Y,Nonaka I,Hirai S,Ozawa Edoi
10.1016/0022-510x(93)90190-asubject
Has Abstractpub_date
1993-10-01 00:00:00pages
43-52issue
1eissn
0022-510Xissn
1878-5883pii
0022-510X(93)90190-Ajournal_volume
119pub_type
杂志文章abstract:OBJECT:We aimed to investigate the link between the autonomic nervous system (ANS) impairment, assessed using baroreflex sensitivity (BRS) and heart rate variability (HRV) indices, and mortality after aneurysmal subarachnoid haemorrhage (aSAH). METHODS:A total of 57 patients (56 ± 18 years) diagnosed with aSAH were re...
journal_title:Journal of the neurological sciences
pub_type: 杂志文章
doi:10.1016/j.jns.2018.09.014
更新日期:2018-11-15 00:00:00
abstract::Bradykinesia is a disabling symptom of Parkinson's disease (PD) which presents with slowness of movement. Visual assessment using clinical rating scales is currently the gold standard to assess bradykinesia. Such assessments require multiple separate movements, are subjective, and rely on the ability of the rater to d...
journal_title:Journal of the neurological sciences
pub_type: 杂志文章
doi:10.1016/j.jns.2016.07.056
更新日期:2016-09-15 00:00:00
abstract::Previous studies achieved conflicting results when correlating magnetic resonance imaging (MRI) abnormalities and cognitive impairment in multiple sclerosis (MS) patients. Recently, the estimation of MS lesion load on T1-weighted images and the analysis of magnetization transfer ratio (MTR) histograms, increased the d...
journal_title:Journal of the neurological sciences
pub_type: 杂志文章
doi:10.1016/s0022-510x(99)00266-x
更新日期:1999-12-15 00:00:00
abstract::In this review, we focus on different pathogenetic mechanisms of corticosteroids that induce short- and long-term brain volume fluctuations in a variety of systemic conditions and disorders, as well as on corticosteroid-induced immunomodulatory, immunosuppressive and anti-inflammatory mechanisms that contribute to the...
journal_title:Journal of the neurological sciences
pub_type: 杂志文章,评审
doi:10.1016/j.jns.2005.03.006
更新日期:2005-06-15 00:00:00
abstract::Although fatigue is a frequent complaint of patients with multiple sclerosis (MS), little is known about the origins of multiple-sclerosis-associated fatigue. Our primary focus was to study if the extent of cerebral abnormalities, as shown on magnetic resonance imaging (MRI), had any relation with the frequency and in...
journal_title:Journal of the neurological sciences
pub_type: 临床试验,杂志文章
doi:10.1016/s0022-510x(98)00251-2
更新日期:1998-10-08 00:00:00
abstract::Vasoactive intestinal peptide (VIP) and cholecystokinin (CCK) have been measured, by radioimmunoassay, in cerebral cortex obtained at autopsy from patients without neurological or psychiatric disease and from patients with Alzheimer's disease, depression and schizophrenia. Sephadex gel filtration indicated that over 9...
journal_title:Journal of the neurological sciences
pub_type: 杂志文章
doi:10.1016/0022-510x(81)90123-4
更新日期:1981-09-01 00:00:00
abstract::Few studies have explored the role of microRNAs (or miRNAs) in Amyotrophic Lateral Sclerosis (ALS) muscle, possibly because of the difficulty in obtaining samples and because this is a rare disease. We measured the expression levels of muscle-specific miRNAs (miRNA-1, miRNA-206, miRNA-133a, miRNA-133b, miRNA-27a) and ...
journal_title:Journal of the neurological sciences
pub_type: 杂志文章
doi:10.1016/j.jns.2017.07.008
更新日期:2017-09-15 00:00:00
abstract:BACKGROUND:This meta-analysis evaluated feasibility and efficacy of long-term whole-body vibration (WBV) training in improving mobility of multiple sclerosis (MS) patients. METHODS:The primary search of this meta-analysis was conducted from four electronic databases (PubMed, Sport, CINAHL and Cochrane) in order to fin...
journal_title:Journal of the neurological sciences
pub_type: 杂志文章,meta分析,评审
doi:10.1016/j.jns.2015.09.357
更新日期:2015-11-15 00:00:00
abstract::An increasing number of evidence is showing that during prolonged treatment of relapsing-remitting multiple sclerosis (RRMS) with interferon (IFN) beta 1a or IFN beta 1b, the patients may develop serum anti-IFN antibody. It has been argued that some of the RRMS patients receiving IFN beta, who developed antibodies to ...
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/s0022-510x(03)00173-4
更新日期:2003-11-15 00:00:00
abstract:INTRODUCTION:Functional movement disorders (FMD) are not associated with the kind of structural or biochemical alterations seen in other movement disorders and therefore would be unlikely to be associated with lower urinary tract (LUT) dysfunction. However, LUT symptoms have been observed in patients with FMD. OBJECTI...
journal_title:Journal of the neurological sciences
pub_type: 杂志文章
doi:10.1016/j.jns.2015.12.048
更新日期:2016-02-15 00:00:00
abstract::Fatiguability is a determining characteristic of different muscle fibre types. An important aspect, indirectly related to fatiguability, gluconeogenesis, was investigated by observing fructose-1,6-diphosphatase (FDP) activity in experimental models prepared in rabbits by cross-reinnervation of the fatigue-resistant m....
journal_title:Journal of the neurological sciences
pub_type: 杂志文章
doi:10.1016/0022-510x(76)90250-1
更新日期:1976-11-01 00:00:00
abstract::Abnormal function of apolipoprotein E (apoE) has been implicated in the incidence of some neurological disorders including dementia. Our recent experiments have shown that apoE deficiency alters the dynamics of alpha tocopherol (vitamin E) handling by brain. In the current investigation, we examined the uptake and ret...
journal_title:Journal of the neurological sciences
pub_type: 杂志文章
doi:10.1016/j.jns.2009.02.350
更新日期:2009-08-15 00:00:00
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::Hemichorea associated with carotid artery occlusive disease is extremely rare. It has been recently suggested that carotid artery stenosis should be considered in the differential diagnosis of chorea, even in the absence of a preceding stroke or transient ischemic attack. Although the pathophysiology of this condition...
journal_title:Journal of the neurological sciences
pub_type: 杂志文章
doi:10.1016/j.jns.2010.08.068
更新日期:2011-01-15 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::We describe here a 10-year-old patient with high levels of serum IgE and inflammatory myopathy whose muscle fibers exhibit excessive autophagy. Previous studies have demonstrated surface expression of class I MHC antigens on muscle fibers from patients with inflammatory myopathy. The muscle fibers of this patients sho...
journal_title:Journal of the neurological sciences
pub_type: 杂志文章
doi:10.1016/0022-510x(91)90195-d
更新日期:1991-11-01 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::A point mutation at codon 210 (GTT to ATT) of the prion protein gene on chromosome 20 was found in a 48-year-old CJD-affected woman of a Chinese family. This affected woman had an early onset and long-duration form of CJD. Serial magnetic resonance image (MRI) analysis of this woman showed severe brain atrophy, promin...
journal_title:Journal of the neurological sciences
pub_type: 杂志文章
doi:10.1016/s0022-510x(96)00198-0
更新日期:1996-11-01 00:00:00
abstract::The ageing neuromuscular system is thought to undergo a continual process of reorganization as motoneurones are lost and surviving motor nerves reinnervate neighbouring denervated muscle fibres. However, the extent to which collateral reinnervation is able to compensate for neural deficits in the ageing individual is ...
journal_title:Journal of the neurological sciences
pub_type: 杂志文章
doi:10.1016/0022-510x(92)90148-e
更新日期:1992-10-01 00:00:00
abstract::In order to support the concept that a lesion of the thalamus is sufficient to cause a Korsakoff syndrome, we are presenting 5 patients, all of whom developed the syndrome after sustaining a left (dominant) thalamic infarction. Two patients had pure thalamic strokes followed by a permanent Korsakoff syndrome. One of t...
journal_title:Journal of the neurological sciences
pub_type: 杂志文章
doi:10.1016/0022-510x(92)90010-i
更新日期:1992-07-01 00:00:00
abstract::McLeod syndrome is a rare X-linked disorder involving neurological defects and acanthocytosis. We examined the XK gene in three patients with neuroacanthocytosis, one of whom had cardiomyopathy, and his symptoms were very similar to those of McLeod syndrome. We found two new transversions (C to G at codon 204 and G to...
journal_title:Journal of the neurological sciences
pub_type: 杂志文章
doi:10.1016/s0022-510x(97)00067-1
更新日期:1997-09-10 00:00:00
abstract:BACKGROUND:The likelihood of severe disability and death increases with each recurrent stroke. Repeated intravenous (IV) thrombolysis remains one of the therapeutic options when secondary prevention fails; however, its effects after recurrent stroke are largely unknown. The aim of the present review was to assess the r...
journal_title:Journal of the neurological sciences
pub_type: 杂志文章,评审
doi:10.1016/j.jns.2014.07.039
更新日期:2014-10-15 00:00:00
abstract::To verify the presence of lipid peroxidation products in spinocerebellar degeneration (SCD), the cerebella from eight patients with olivopontocerebellar atrophy (OPCA) and six non-OPCA patients were immunohistochemically investigated with 4-hydroxy-2-nonenal (HNE) antibody. On average, 84.6% of Purkinje cells were pos...
journal_title:Journal of the neurological sciences
pub_type: 杂志文章
doi:10.1016/s0022-510x(00)00296-3
更新日期:2000-04-15 00:00:00
abstract::Quantitative sensory testing (QST) has been used clinically for the last two decades, yielding a substantial number of publications regarding these applications. In this review we tried to amass together the major findings of these publications into one monograph, excluding those dealing with pain. This was done with ...
journal_title:Journal of the neurological sciences
pub_type: 杂志文章,评审
doi:10.1016/s0022-510x(97)00293-1
更新日期:1998-01-08 00:00:00
abstract:OBJECTIVE:To report the first histopathologic description of optic nerve demyelination from tacrolimus (FK 506) toxicity in the absence of toxic levels of tacrolimus in a patient presenting with asymmetric bilateral visual loss after 5 years of tacrolimus therapy. PATIENTS:We report a patient status post cardiac and r...
journal_title:Journal of the neurological sciences
pub_type: 杂志文章
doi:10.1016/j.jns.2010.10.014
更新日期:2011-02-15 00:00:00
abstract::The production of interleukin-2 (IL-2) and interleukin-6 (IL-6) by peripheral blood mononuclear cells (MNC) was assessed in patients with Alzheimer's disease (AD) who were subdivided into two groups--mild and moderately-severe--according to the severity of the disease, probable vascular dementia (VaD) patients and eld...
journal_title:Journal of the neurological sciences
pub_type: 临床试验,杂志文章
doi:10.1016/0022-510x(95)00016-u
更新日期:1995-06-01 00:00:00
abstract::Ten unmedicated patients with Parkinson's disease received sub-threshold 5-Hz repetitive transcranial magnetic stimulation (rTMS) over the primary motor hand area (M1(HAND)) contralaterally to the more affected upper limb. Compared to a midfrontal sham-rTMS, real-rTMS over M1(HAND) was associated with a significant de...
journal_title:Journal of the neurological sciences
pub_type: 临床试验,杂志文章
doi:10.1016/s0022-510x(00)00370-1
更新日期:2000-09-15 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::Predicting clinical outcome is one of the major and most interesting issues in MS patients. If the global evolution of disability (usually chosen levels on the Kurtzke's Disability Status Scale) has been widely studied, much less is known about the progression of disability during the secondary progressive phase of th...
journal_title:Journal of the neurological sciences
pub_type: 杂志文章,评审
doi:10.1016/s0022-510x(02)00426-4
更新日期:2003-02-15 00:00:00
abstract::The purpose of the study was to determine the relationship between static postural control parameters to fear of falling and falling history in people with multiple sclerosis (MS) without mobility assistive devices. One-hundred and seven relapsing-remitting patients diagnosed with MS, 62 women aged 42.8 (S.D.=12.0), p...
journal_title:Journal of the neurological sciences
pub_type: 杂志文章
doi:10.1016/j.jns.2013.09.029
更新日期:2013-12-15 00:00:00