Abstract:
:Paralytic tremor (pt), a hereditary neurological disorder of rabbits, is a recessive, X-linked point mutation in exon 2 of the plp gene, responsible for substitution of 38 His by Glu in the PLP molecule. Pt genotype is expressed in a range of phenotypes, distinguished by the severity of neurological symptoms. Variable course of the disease, from totally asymptomatic to serious disorder, is observed even within the offspring of one breeding pair. The two most typical phenotypes have been chosen for the studies: one representing mild course of the disease and the other reflecting the most severe course. Since previous developmental studies proved that myelination is not only deficient but also delayed in pt rabbits, the age groups of animals have been selected with the aim of spanning the period of most active myelinogenesis. As revealed by experiments, the degree of CNS hypomyelination, which is the main future of pt mutation, is highest in the most affected animals. The amounts of mutated gene products, PLP and DM-20, examined both at mRNA and protein levels, exhibited a strong dependence on phenotype. Down-regulation of MBP and CNP was also observed. In contrast, MAG expression was normal or only slightly changed in mutants. The results lead to the conclusion that pt mutation in the plp gene affects a panel of events that governs myelinogenesis and is modulated in each individual that is manifested by gradation of neurological symptoms.
journal_name
Folia Neuropatholjournal_title
Folia neuropathologicaauthors
Sypecka J,Domańska-Janik Ksubject
Has Abstractpub_date
2006-01-01 00:00:00pages
244-50issue
4eissn
1641-4640issn
1509-572Xpii
7177journal_volume
44pub_type
杂志文章abstract::Globoid cell leukodystrophy (GLD, also known as Krabbe disease), whose pathophysiology is still not completely elucidated, is an inherited, metabolic, and neurodegenerative disease, caused by the deficiency of β-galactocerebrosidase (GALC) or in very rare cases by lack of active saposin A. We describe two patients, i...
journal_title:Folia neuropathologica
pub_type: 杂志文章,评审
doi:10.5114/fn.2012.32364
更新日期:2012-01-01 00:00:00
abstract::Morphometric analysis of the cerebellar cortex capillary cross-section area performed in experimental valproate encephalopathy using transmission electron microscopy showed that prolongation of VPA application resulted in more enhanced lumen narrowing manifested in gradual reduction in the mean value of the coefficien...
journal_title:Folia neuropathologica
pub_type: 杂志文章
doi:
更新日期:2001-01-01 00:00:00
abstract::Intracranial lipomas are rare and usually benign in their course. We report a case of a giant intracranial lipoma presenting with raised intracranial pressure. Additionally, this patient was found to have a large lipoma of the anterior fontanelle. The clinical course and outcome of this patient is presented and releva...
journal_title:Folia neuropathologica
pub_type: 杂志文章
doi:
更新日期:2007-01-01 00:00:00
abstract::Chemokines play an important role in pathogenesis of multiple sclerosis (MS), mediating migration of leukocytes into the central nervous system. CCL2 (MCP-1) chemokine is expressed in astrocytes in MS lesions. The aim of the study was to evaluate the effect of a two-year treatment with IFN-beta 1a on serum CCL2 level ...
journal_title:Folia neuropathologica
pub_type: 杂志文章
doi:
更新日期:2004-01-01 00:00:00
abstract::PPAX6 is an important transcription factor which plays an essential role in brain morphogenesis and eye development. It is related to migration of neuroblasts to the cerebral cortex and deep telencephalic nuclei, and the specification of cellular and regional identity. Disturbances of brain development in two sib fetu...
journal_title:Folia neuropathologica
pub_type: 杂志文章
doi:
更新日期:2009-01-01 00:00:00
abstract::Neuroacanthocytosis is a rare disease of nervous system with multisystem pathology. This review presents clinical syndromes and morphological changes of sporadic and familial forms of neuroacanthocytosis and is illustrated by the case of a 27-year-old man. Progressive extrapyramidal syndrome appeared at the age of 22....
journal_title:Folia neuropathologica
pub_type: 杂志文章,评审
doi:
更新日期:1996-01-01 00:00:00
abstract::The aim of our study was to present six cases with cystic changes within the white matter in infant brains and discuss the variants of this type of neuropathological lesions of the developing brain. Two of them exhibited the changes characteristic for cystic leucoencephalopathy. To the others with moderate involvement...
journal_title:Folia neuropathologica
pub_type: 杂志文章
doi:
更新日期:1994-01-01 00:00:00
abstract::We report here the first description of florid plaques--the hallmark of variant Creutzfeldt-Jakob disease (vCJD). These plaques are composed of broad bundles of amyloid, are highly neuritic and exhibited astrocytes and microglial cells. Collectively, they are more similar to neuritic plaques of Alzheimer's disease tha...
journal_title:Folia neuropathologica
pub_type: 杂志文章
doi:
更新日期:2000-01-01 00:00:00
abstract::Some data suggest that the central nervous system (CNS) is the main target of Staphylococcus alpha-toxin. Since this pathogen cannot penetrate the blood-brain barrier (BBB), the exact mechanism by which alpha-toxin affects the CNS remains unclear. Recent studies on the role of the innate immune system have shed light ...
journal_title:Folia neuropathologica
pub_type: 杂志文章
doi:
更新日期:2004-01-01 00:00:00
abstract::We have determined the cellular concentration of thyroxine (T4) and triiodothyronine (T3) and the activities of two brain iodothyronine deiodinases, type II (5'-D2) and type III (5-D3), in two types of tissues --tumour (26) and non-tumour (5), derived either from human gliomas with various histological malignancies or...
journal_title:Folia neuropathologica
pub_type: 杂志文章
doi:
更新日期:2004-01-01 00:00:00
abstract::The authors present a rare case of C-6 vertebral involvement in a 12-year-old boy with histiocytosis X. The patient presented with limitation in movements of neck and upper extremities. Computed tomography (CT) and magnetic resonance (MRI) imaging were used in the preoperative workup. Surgery was performed via an ante...
journal_title:Folia neuropathologica
pub_type: 杂志文章
doi:
更新日期:2007-01-01 00:00:00
abstract::Myositis specific autoantibodies (MSA) are the most specific markers of idiopathic inflammatory myopathies (IIM). There is no evidence of presence MSA in patients with other neuromuscular or connective tissue diseases. We compared the frequency of MSA in two groups of IIM patients, one from Poland and one from North A...
journal_title:Folia neuropathologica
pub_type: 杂志文章
doi:
更新日期:2000-01-01 00:00:00
abstract::The Warburg micro syndrome (WARBM) is a genetically heterogeneous syndrome linked to at least 4 loci. At the clinical level, WARBM is characterized by microcephaly, microphthalmia, microcornea, congenital cataracts, corpus callosum hypoplasia, severe mental retardation, and hypogonadism. In some families additional cl...
journal_title:Folia neuropathologica
pub_type: 杂志文章
doi:10.5114/fn.2016.62537
更新日期:2016-01-01 00:00:00
abstract:INTRODUCTION:Sporadic inclusion body myositis (sIBM) is one of the most common myopathies in patients above 50 years of age. Its progressive course finally leads to immobilisation, and no effective therapy exists. Its pathogenesis includes both degenerative and inflammatory processes, however, its direct causes remain ...
journal_title:Folia neuropathologica
pub_type: 杂志文章
doi:10.5114/fn.2015.56550
更新日期:2015-01-01 00:00:00
abstract::Deficiency of dystrophin in skeletal muscles is supposed to be responsible for all the symptoms associated with Duchenne dystrophy (DMD) and Becker dystrophy (BMD). The dystrophin-deficient mdx mice, however, are clinically almost asymptomatic. Hence, other factor(s) might be responsible for the muscle pathology in DM...
journal_title:Folia neuropathologica
pub_type: 杂志文章
doi:
更新日期:2002-01-01 00:00:00
abstract:BACKGROUND:The efficacy of tempol and its acyl derivative tempol-C8 as retinoprotective agents was compared in a rat model of NMDA-induced retinal ganglion cell (RGC) damage. MATERIAL AND METHODS:Tempol or tempol-C8 in different doses was administered intraperitoneally to 6 weeks old (pre-adolescent) and 9-10 weeks ol...
journal_title:Folia neuropathologica
pub_type: 杂志文章
doi:10.5114/fn.2014.45570
更新日期:2014-01-01 00:00:00
abstract::The importance of chemokines seems to extend far beyond their well-known role as mediators of an inflammatory response. The most interesting hypothesis is that these molecules may influence the migration of progenitor cells during development. Primary sensory neurones have been shown to migrate towards RANTES in vitro...
journal_title:Folia neuropathologica
pub_type: 杂志文章
doi:
更新日期:2003-01-01 00:00:00
abstract::The object of the study is a comparison of intrathecal IgG synthesis and gamma/delta TCR genes rearrangement in multiple sclerosis. The subgroup of 13 cases with intrathecal IgG synthesis and positive oligoclonal bands was compared with 8 cases with IgG index below 0.75 and with undetectable oligoclonal bands. TCR gen...
journal_title:Folia neuropathologica
pub_type: 杂志文章
doi:
更新日期:1999-01-01 00:00:00
abstract::Since the earliest descriptions of the disease, senile plaques (SP) and neurofibrillary tangles (NFT) have been regarded as the pathological 'hallmarks' of Alzheimer's disease (AD). Whether or not SP and NFT are sufficient cause to explain the neurodegeneration of AD is controversial. The major molecular constituents ...
journal_title:Folia neuropathologica
pub_type: 杂志文章,评审
doi:
更新日期:2009-01-01 00:00:00
abstract::Inherited neurodegenerative disorders are debilitating diseases that occur across different species, such as the domestic dog (Canis lupus familiaris), and many are caused by mutations in the same genes as corresponding human conditions. In the present study, we report an inherited neurodegenerative condition, term...
journal_title:Folia neuropathologica
pub_type: 杂志文章
doi:10.5114/fn.2017.68580
更新日期:2017-01-01 00:00:00
abstract::The gerbils brains after 3- and 4-minute-long ischemia caused by bilateral common carotid artery occlusion and 14 days survival were investigated using lectin techniques. Chosen lectins, represented by synthetic plant glycoproteids, which are specifically bound to particular sugar residues (receptors) located on the c...
journal_title:Folia neuropathologica
pub_type: 杂志文章
doi:
更新日期:1998-01-01 00:00:00
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journal_title:Folia neuropathologica
pub_type: 杂志文章
doi:10.5114/fn.2018.74659
更新日期:2018-01-01 00:00:00
abstract::Introduction: Mixed dementia (MixD) refers to a combination of definite Alzheimer's disease (AD) and vascular encephalopathy. The existence of a "pure" type of vascular dementia (VaD) is controversial. There is a need to find magnetic resonance imaging (MRI) characteristics allowing the distinction between V...
journal_title:Folia neuropathologica
pub_type: 杂志文章
doi:10.5114/fn.2017.66711
更新日期:2017-01-01 00:00:00
abstract::Idiopathic hypertrophic pachymeningitis (IHPM) is a rare pathological state, with still unclear aetiopathogenesis. We present a case of a 63-year-old woman with cranial variety of that disease. The manifestations of the disease included headaches, paresis of VI, IX, X nerves and cerebellar ataxia. The disease was diag...
journal_title:Folia neuropathologica
pub_type: 杂志文章
doi:
更新日期:2007-01-01 00:00:00
abstract:OBJECTIVES:Ischemic stroke remains one of the top ten causes of death in children. There is evidence for the role of pro-inflammatory cytokines, such as IL-6 and the -174G>C promoter polymorphism of the IL-6 gene, in the occurrence and outcome of stroke in adults. The aim of the present study was to determine a possibl...
journal_title:Folia neuropathologica
pub_type: 杂志文章
doi:
更新日期:2012-01-01 00:00:00
abstract:INTRODUCTION:Cerebral autosomal dominant arteriopathy with subcortical infarcts and leukoencephalopathy (CADASIL) is a hereditary, progressive ischemic disease of small vessels of the brain characterized by migraine with aura (MA), recurrent subcortical ischemic episodes, cognitive decline and psychiatric disorders. CA...
journal_title:Folia neuropathologica
pub_type: 杂志文章
doi:10.5114/fn.2020.94009
更新日期:2020-01-01 00:00:00
abstract::Tumours of astroglial origin, both malignant glioblastoma (GBM) and benign subependymal giant cell astrocytoma (SEGA), pose a serious medical problem. Casein kinase 2 (CK2), a member of the serine/threonine kinase family, has antiapoptotic properties and plays a vital role in glial tumour cell survival. It contributes...
journal_title:Folia neuropathologica
pub_type: 杂志文章
doi:10.5114/fn.2019.88452
更新日期:2019-01-01 00:00:00
abstract::In the course of histopathological investigation of the temporal lobe sections, selected from 63 patients treated surgically for intractable epilepsy and finally presented with primary temporal tumors, we found 12 cases expressed both neoplastic process' and developmental disorders. The temporal mass lesions consistin...
journal_title:Folia neuropathologica
pub_type: 杂志文章
doi:
更新日期:1999-01-01 00:00:00
abstract::We describe here a variety of autophagous forms encountered in the terminal stages of two models of scrapie in hamsters. We also show that the number of autophagic vacuoles increased through the incubation period in the 263K strain scrapie model. In addition, we demonstrated for the first time the presence of aggresom...
journal_title:Folia neuropathologica
pub_type: 杂志文章
doi:
更新日期:2007-01-01 00:00:00
abstract::The analysis of qualitative changes in the locus coeruleus (LC) was performed on brains from 21 cases of Parkinson's disease. Eleven cases were selected for quantitative analysis of the loss of LC noradrenergic pigmented neurons. The qualitative studies revealed uneven dissemination of the noradrenergic cells loss of ...
journal_title:Folia neuropathologica
pub_type: 杂志文章
doi:
更新日期:1997-01-01 00:00:00