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, rich in desmin, tropomyosin and alpha-actinin consisted of abnormally arranged myofibrils. The position of the peripherally situated myofibrils, as well as their abnormal sarcomere pattern, seems to point to an error in fusion and muscle protein synthesis. Whether our cases of congenital myopathy with cap structures are of hereditary origin or of a sporadic type remains unknown, so far. It seems that the result of our study, as well as data presented in the literature, allows us to divede cap disease into two forms: fatal and nonfatal. The morphological changes in the muscle fibres are identical in all the presented cases but the number of muscle fibres with cap structures is much higher in the fatal form.
journal_name
J Neurol Scijournal_title
Journal of the neurological sciencesauthors
Fidziańska Adoi
10.1016/s0022-510x(02)00156-9subject
Has Abstractpub_date
2002-09-15 00:00:00pages
27-31issue
1-2eissn
0022-510Xissn
1878-5883pii
S0022510X02001569journal_volume
201pub_type
杂志文章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：:Six clones obtained from the neoplastic, astrocytic murine cell line VMDk P497 were injected intracerebrally into syngeneic hosts and the tumorigenicity of each clone was established. Five of the 6 clones produced tumours with incidences ranging from 25% to 100% and mean latencies of 43-100 days, according to the clon...
journal_title：Journal of the neurological sciences
pub_type： 杂志文章
doi：10.1016/0022-510x(88)90071-8
更新日期：1988-02-01 00:00:00
abstract：:Multiple sclerosis is an inflammatory disease of the central nervous system (CNS) which includes a neurodegenerative component. Brain derived neurotrophic factor (BDNF) is a neuroprotective agent which might be useful in preventing neurodegeneration but its application has been limited because the blood brain barrier ...
journal_title：Journal of the neurological sciences
pub_type： 杂志文章
doi：10.1016/j.jns.2008.02.011
更新日期：2008-07-15 00:00:00
abstract：:In human and subhuman primates, 1-methyl-4-phenyl-1,2,3,6-tetrahydropyridine (MPTP) produces irreversible clinical, biochemical and neuropathological alterations highly reminiscent of those observed in Parkinson's disease. The MPTP model has provided the best available tool to date for the assessment of efficacy and s...
journal_title：Journal of the neurological sciences
pub_type： 杂志文章,评审
doi：10.1016/0022-510x(90)90225-c
更新日期：1990-07-01 00:00:00
abstract：OBJECTIVE:To describe the phenotype of individuals with intermediate allele (IA) CAG repeat length in the huntingtin (HTT) gene evaluated at the Parkinson's Disease Center and Movement Disorders Clinic (PDCMDC) at Baylor College of Medicine (BCM). BACKGROUND:Huntington disease (HD) is caused by a mutation in the HTT g...
journal_title：Journal of the neurological sciences
pub_type： 杂志文章
doi：10.1016/j.jns.2019.05.010
更新日期：2019-07-15 00:00:00
abstract：:We report a new Japanese family of sialidosis type I. The sialidase activity was deficient in the lymphocytes of 2 patients (6.8% (sister) and 12.5% (brother) of control mean). However, surprisingly, using the transformed lymphocytes by EB virus, this activity was activated to 51.7% (sister) and 49.5% (brother) of con...
journal_title：Journal of the neurological sciences
pub_type： 杂志文章
doi：10.1016/0022-510x(95)00102-8
更新日期：1995-07-01 00:00:00
abstract：:To clarify the current status of treatments and outcomes of patients with myasthenia gravis (MG) in Japan, a total of 470 patients (164 men and 306 women; mean age 41 years) were recruited from 19 Japanese tertiary medical centers in 1999-2000. Thymectomy was performed in 319 (68%) of the patients. Patients who receiv...
journal_title：Journal of the neurological sciences
pub_type： 杂志文章,多中心研究
doi：10.1016/j.jns.2003.09.016
更新日期：2004-09-15 00:00:00
abstract：:Around 70% of Charcot-Marie-Tooth 1 (CMT1) cases are caused by a dominantly inherited 1.5-Mb duplication at 17p11.2-12 (CMT1A). Using photostimulated luminescence (PSL) imaging of MspI Southern blots, hybridization signals of the probe pVAW409R3a in relation to cohybridized probe SF85a, were densitometrically quantifi...
journal_title：Journal of the neurological sciences
pub_type： 杂志文章
doi：10.1016/s0022-510x(01)00544-5
更新日期：2001-07-15 00:00:00
abstract：:Superficial siderosis (SS) of the central nervous system is a rare disorder caused by chronic or recurrent hemorrhages into the subarachnoid space with hemosiderin and ferritin deposition, which leads to neuronal damage. The source of bleeding remains unknown in 50% of cases. Recently, attention has been focused on fl...
journal_title：Journal of the neurological sciences
pub_type： 杂志文章
doi：10.1016/j.jns.2011.07.034
更新日期：2012-01-15 00:00:00
abstract：:Thirty-six patients with benign intracranial hypertension (BIH) were reviewed. Follow-up was obtained on 33 patients (91%) after a mean period of 7 1/2 years. Precipitating factors were found in 27 patients (75%). On admission, 5 patients had retro-ocular pain, especially on eye movements, a complaint not yet describe...
journal_title：Journal of the neurological sciences
pub_type： 杂志文章
doi：10.1016/0022-510x(79)90200-4
更新日期：1979-02-01 00:00:00
abstract：:Affective disorders and personality changes have long been considered pre-motor aspects of Parkinson's disease (PD). Many authors have used the term "premorbid personality" to define distinctive features of PD patients' personality characterized by reduced exploration of new environmental stimuli or potential reward s...
journal_title：Journal of the neurological sciences
pub_type： 杂志文章,评审
doi：10.1016/j.jns.2017.01.013
更新日期：2017-03-15 00:00:00
abstract：:Amyotrophic lateral sclerosis (ALS) is a neurodegenerative disorder characterized by loss of motor neuron and various cognitive deficits including writing errors. (11)C-flumazenil (FMZ), the positron emission tomography (PET) GABA(A) receptor ligand, is a marker of cortical dysfunction. The objective of this study was...
journal_title：Journal of the neurological sciences
pub_type： 杂志文章
doi：10.1016/j.jns.2011.11.039
更新日期：2012-04-15 00:00:00
abstract：:Two groups of "mdx" mice, totalling 36 animals of both sexes aged between 8 and 30 weeks, have been studied. In the first group of 10 males and 10 females, 8 males (at 8, 12, 20 and 30 weeks) and 4 females (at 12 and 30 weeks) showed severe limb muscle degeneration and inflammation with prominent regeneration and cent...
journal_title：Journal of the neurological sciences
pub_type： 杂志文章
doi：10.1016/0022-510x(86)90003-1
更新日期：1986-02-01 00:00:00
abstract：:The interictal hypometabolism in patients with focal epilepsy is usually regarded as stationary. In this study we investigated to which extent the hypometabolism may depend on the activity of the epileptic focus. In focal penicillin-induced epilepsy in rats the epileptic focus is hypermetabolic. This focus is accompan...
journal_title：Journal of the neurological sciences
pub_type： 临床试验,杂志文章
doi：10.1016/0022-510x(94)90325-5
更新日期：1994-07-01 00:00:00
abstract：BACKGROUND:Orthostatic hypotension (OH) is a commonly reported sign of the cardiovascular autonomic dysfunctions associated with Parkinson's disease (PD). Patients might suffer from a variety of the clinical symptoms of OH, including dizziness, lightheadedness, or problems with vision and fatigue. OBJECTIVES:To determ...
journal_title：Journal of the neurological sciences
pub_type： 杂志文章
doi：10.1016/j.jns.2017.12.037
更新日期：2018-02-15 00:00:00
abstract：OBJECTIVE:Naftopidil is used clinically for the treatment of voiding disorders in benign prostatic hyperplasia. Previous in vivo experiments in which naftopidil was applied intrathecally abolished rhythmic bladder contraction, suggesting that naftopidil might inhibit a voiding reflex through interaction with spinal dor...
journal_title：Journal of the neurological sciences
pub_type： 杂志文章
doi：10.1016/j.jns.2017.07.030
更新日期：2017-09-15 00:00:00
abstract：:Lower limb neuropathic pain in HIV patients is a common manifestation of sensory neuropathy (HIV-SN), but can be seen in patients who do not meet standard definitions of HIV-SN. The drug stavudine is a risk factor for HIV-SN, but some patients treated without stavudine experience HIV-SN, and the prevalence and risk fa...
journal_title：Journal of the neurological sciences
pub_type： 杂志文章
doi：10.1016/j.jns.2018.12.041
更新日期：2019-02-15 00:00:00
abstract：:Preclinical evidence strongly indicate that adenosine A(2A) receptor antagonists represent a promising class of drugs for the treatment of motor deficits associated to Parkinson's disease. The effects of adenosine A(2A) receptor antagonists were here assessed in a rat model of parkinsonian tremor induced by cholinomim...
journal_title：Journal of the neurological sciences
pub_type： 杂志文章
doi：10.1016/j.jns.2006.05.038
更新日期：2006-10-25 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
abstract：BACKGROUND AND AIMS:Subacute combined degeneration (SACD) of the spinal cord, characterized by degeneration of lateral and posterior columns, is often found in vitamin B12 deficiency. Our aim was to look for sensitivity of imaging in depicting the spinal cord abnormality in vitamin B12 deficient patients and to find an...
journal_title：Journal of the neurological sciences
pub_type： 杂志文章
doi：10.1016/j.jns.2014.05.020
更新日期：2014-07-15 00:00:00
abstract：:Differentiating Parkinson's disease (PD) from other types of neurodegenerative atypical parkinsonism (AP) can be challenging, especially in early disease stages. Routine brain magnetic resonance imaging (MRI) can show atrophy or signal changes in several parts of the brain with fairly high specificity for particular f...
journal_title：Journal of the neurological sciences
pub_type： 杂志文章,评审
doi：10.1016/j.jns.2013.06.032
更新日期：2013-09-15 00:00:00
abstract：:The understanding of the genetic basis of neurological disorders has grown rapidly in the last two decades. Despite the genomic heterogeneity within African populations, large-scale candidate gene or linkage and exome studies are lacking. However, current knowledge on neurogenetics in African populations is limited an...
journal_title：Journal of the neurological sciences
pub_type： 杂志文章,评审
doi：10.1016/j.jns.2016.05.006
更新日期：2016-07-15 00:00:00
abstract：BACKGROUND:Myosin-IIB is a non-muscle isoform in the brain with increased expression in the brains of diabetic rats. Chronic hyperglycemia caused by diabetes can impair learning and memory. Oral hypoglycemic agents such as glibenclamide have been used to control hyperglycemia. We report changes in the expression and di...
journal_title：Journal of the neurological sciences
pub_type： 杂志文章
doi：10.1016/j.jns.2014.03.020
更新日期：2014-05-15 00:00:00
abstract：:The ability to accurately navigate within an environment (known or new) is not fully understood but involves a number of highly complicated cognitive process related to both central and peripheral nervous system structures and neuronal networks. We describe a patient who developed loss of his spatial navigational skil...
journal_title：Journal of the neurological sciences
pub_type： 杂志文章
doi：10.1016/j.jns.2011.06.026
更新日期：2011-09-15 00:00:00
abstract：:Over two decades, a 42-year old woman experienced the gradual onset of choreic involuntary movements, dystonia, and tics. Decreased caudate nucleus metabolism on 2-deoxyglucose PET scan and a heterozygous 49-CAG repeat expansion within the HTT gene established the diagnosis of HD, although no other family history was ...
journal_title：Journal of the neurological sciences
pub_type： 杂志文章
doi：10.1016/j.jns.2012.08.034
更新日期：2012-12-15 00:00:00
abstract：:Brain imaging studies as well as neuropsychological case studies suggest an important role for basal ganglia in arithmetic processing. Aim of this study was to assess possible numerical deficits in PD and functional relations between numerical and other cognitive deficits. Fifteen non-demented patients with early PD (...
journal_title：Journal of the neurological sciences
pub_type： 杂志文章
doi：10.1016/j.jns.2006.05.037
更新日期：2006-10-25 00:00:00
abstract：BACKGROUND:Postural instability is often experienced in the late stages of PD and is a marker of disease progression. Little information is available on the role of visual inputs as an adaptive strategy to compensate for postural instability in PD. The purpose of this study was to determine visual dependency for postur...
journal_title：Journal of the neurological sciences
pub_type： 杂志文章
doi：10.1016/j.jns.2015.01.022
更新日期：2015-02-15 00:00:00
abstract：:In this study, we examined transient ischemia-induced changes in transcription factor E2F1 and c-myb expressions in the gerbil hippocampus after 5 min of transient forebrain ischemia. E2F1 immunoreactivity significantly increased in the CA1 region 6-12 h after ischemia/reperfusion. c-myb immunoreactivity increased mai...
journal_title：Journal of the neurological sciences
pub_type： 杂志文章
doi：10.1016/j.jns.2006.05.048
更新日期：2006-09-25 00:00:00
abstract：:The brain constitutes an environment that is specifically designed to accommodate, regulate and shape immune responses. On one hand, the central nervous system (CNS) has traditionally been regarded as an immunologically privileged organ, owing to local tissue barrier and immunosuppressive microenvironment. On the othe...
journal_title：Journal of the neurological sciences
pub_type： 杂志文章,评审
doi：10.1016/s0022-510x(98)00049-5
更新日期：1998-04-15 00:00:00
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 Testin...
journal_title：Journal of the neurological sciences
pub_type： 临床试验,杂志文章
doi：10.1016/0022-510x(95)00147-t
更新日期：1995-10-01 00:00:00
