Abstract：
:Cerebral autosomal dominant arteriopathy with subcortical infarcts and leukoencephalopathy (CADASIL) is caused by mutations in the NOTCH3 gene. Pathophysiologically, there seems to be multimerization of the extracellular domain of the protein with a possible gain of function on vascular smooth muscular cells. However, the mechanisms and determinants of NOTCH3 multimerization are not completely understood, and it is not completely elucidated whether NOTCH3 multimerization contributes to the appearance of granular osmiophilic material (GOM) deposits, which are the pathological hallmark of CADASIL. We recently reported a patient with parkinsonism and cognitive impairment and with evidence of diffuse white matter changes on imaging, carrying a NOTCH3 nonsense mutation in exon 3 (c.307C>T), and suggested that such a hypomorphic NOTCH3 mutation was likely to be pathogenic. We further pursued ultrastructural examination of skin vessels in our case, and here we report the results, wishing to make a comment on whether GOM deposits should be considered the pathological hallmark for a definitive diagnosis of CADASIL in those patients whose mutations are predicted in the production of hypomorphic protein products.
journal_name
Folia Neuropatholjournal_title
Folia neuropathologicaauthors
Erro R,Moccia M,Cervasio M,Penco S,De Caro Mdel B,Barone Pdoi
10.5114/fn.2015.52414subject
Has Abstractpub_date
2015-01-01 00:00:00pages
168-71issue
2eissn
1641-4640issn
1509-572Xpii
25341journal_volume
53pub_type
信件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：:Hyponatremia is a common disorder of water-electrolyte balance characterized by the decrease of plasma sodium ions concentration below 135 mM. Although water-electrolyte balance is regulated by a kidney, symptoms of hyponatremia are related to the disturbances of intracranial homeostasis and are attributed to brain sw...
journal_title：Folia neuropathologica
pub_type： 杂志文章
doi：10.5114/fn.2013.37707
更新日期：2013-01-01 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：: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：:We present a case of rare orbital roof haemangioma infiltrating the medial and lateral walls of the orbit, zygomatic bone and lesser and greater wings of the sphenoid. The tumour was totally excised by the frontolateral approach, followed by craniofacial and orbital roof reconstruction. ...
journal_title：Folia neuropathologica
pub_type： 杂志文章
doi：
更新日期：2001-01-01 00:00:00
abstract：:Morphological alterations and the course of changes in motoneuron counts were studied by light microscopy (cresyl violet staining) in the L2/L3 region of the spinal cord of hemizygotic transgenic rats carrying the amyotrophic lateral sclerosis-associated mutant human gene for Cu,Zn superoxide dismutase (hSOD1G93A) and...
journal_title：Folia neuropathologica
pub_type： 杂志文章
doi：
更新日期：2006-01-01 00:00:00
abstract：INTRODUCTION:Brain injury caused by ischaemic stroke is a major cause of disability and death throughout the world. The present study evaluates the neuroprotective effect of pseudopterosin A (PtA) against ischaemia-induced brain injury. MATERIAL AND METHODS:Ischaemia was induced by pMCAO model, and rats were separated...
journal_title：Folia neuropathologica
pub_type： 杂志文章
doi：10.5114/fn.2018.76614
更新日期：2018-01-01 00:00:00
abstract：:Current basic research on tumorigenesis suggests that the accumulation of multiple genetic defects underlies the progression of initiated cells toward malignancy. Molecular abnormalities associated with primary brain tumors include a wide variety of changes in tumor-suppressor genes, proto-oncogenes and growth factors...
journal_title：Folia neuropathologica
pub_type： 杂志文章,评审
doi：
更新日期：1994-01-01 00:00:00
abstract：:Autopsy material of 18 patients, who died between 66-86 years of age and of 4 ones, who died between 20 and 38 years of age was investigated. The white matter of frontal lobe, corpus callosum and cerebellum was studied using histological and biochemical methods. According to the results of neuropathological studies, t...
journal_title：Folia neuropathologica
pub_type： 杂志文章
doi：
更新日期：1994-01-01 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：:Human T lymphotropic virus type I (HTLV-I)-associated myelopathy/tropical spastic paraparesis (HAM/TSP) is a chronic progressive myelopathy characterized by bilateral pyramidal tract involvement with sphincteric disturbances. The primary neuropathological feature of HAM/TSP is chronic myelitis characterized by perivas...
journal_title：Folia neuropathologica
pub_type： 杂志文章,评审
doi：
更新日期：2009-01-01 00:00:00
abstract：:Glioblastoma, the most malignant astrocytic tumour, is associated with limited survival and thus rare metastases. We analysed a particularly interesting case - a 51-year-old male diagnosed within 2 years with primary and recurrent glioblastoma, isocitrate dehydrogenase (IDH)-wild type, as well as with numerous extra-c...
journal_title：Folia neuropathologica
pub_type： 杂志文章
doi：10.5114/fn.2019.83833
更新日期：2019-01-01 00:00:00
abstract：:A case of the 18-year-old boy suffering from epilepsy since 8 years and suspected of microangioma is presented. The craniotomy revealed left parietal parasagittal superficially located neoplasm and arteriovenous malformation beneath. Unexpected fibrillary astrocytoma associated with vascular tumor was the diagnostic p...
journal_title：Folia neuropathologica
pub_type： 杂志文章
doi：
更新日期：1994-01-01 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：:Prion-like transmission of protein aggregates or amyloid in several neurodegenerative diseases, such as Parkinson's disease, Huntington's disease and Alzheimer's disease, in addition to the transmissible spongiform encephalopathies (or prion diseases), has been proposed recently. This is a controversial idea and, in t...
journal_title：Folia neuropathologica
pub_type： 杂志文章,评审
doi：
更新日期：2012-01-01 00:00:00
abstract：:Metallothioneins (MT) are common proteins in animal tissues. These proteins take part in the homeostasis of the ions of the metals which are necessary for the proper metabolism of the organism (zinc, copper), biosynthesis regulation and zincprotein activity (for example the activity of the zinc-dependant transcription...
journal_title：Folia neuropathologica
pub_type： 杂志文章
doi：
更新日期：2005-01-01 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：:The aim of the study was to analyse in TEM the evolution of changes in structural elements of synaptic junctions of the cerebellar cortex in rats in valproate encephalopathy induced by chronic 12-month administration of sodium valproate - VPA (once daily intragastrically, in a dose of 200 mg/kg b.w.) and after withdra...
journal_title：Folia neuropathologica
pub_type： 杂志文章
doi：
更新日期：2002-01-01 00:00:00
abstract：:The endothelial vacuolar and vesicular transports in traumatic human brain oedema have been reviewed and compared with experimental brain oedema in order to establish their role in both oedema formation and oedema resolution. Normal or "non-activated" and "activated" capillaries are found. The activated capillaries sh...
journal_title：Folia neuropathologica
pub_type： 杂志文章,评审
doi：10.5114/fn.2013.35951
更新日期：2013-01-01 00:00:00
abstract：:Chordoid glioma is a rare benign neoplasm of uncertain histogenesis occurring in the third ventricle/ /suprasellar region. Recently, data have emerged suggesting that chordoid glioma is a variant of ependymoma related to a specialised ependyma of the subcommisural organ or the lamina terminalis area. In this study, we...
journal_title：Folia neuropathologica
pub_type： 杂志文章
doi：
更新日期：2003-01-01 00:00:00
abstract：BACKGROUND AND STUDY PURPOSE:due to the fact that an interrelation between metastases of lung cancer to the brain and surroundings may influence the prognosis, we made attempts to answer the following questions: 1) how is the border between the tumour and its surroundings formed? 2) are there any differences in the gli...
journal_title：Folia neuropathologica
pub_type： 杂志文章
doi：
更新日期：2006-01-01 00:00:00
abstract：:The aim of our study was the estimation of the apoptosis process using in situ-end labelling of DNA breaks method on paraffin sections in 5 human cases of Alzheimer's disease (AD), 6 of Creutzfeldt-Jakob disease (CJD) and in 25 mice infected experimentally with the Fujisaki strain of CJD, killed sequentially at one-we...
journal_title：Folia neuropathologica
pub_type： 杂志文章
doi：
更新日期：1997-01-01 00:00:00
abstract：:In the present work, we investigated the effect of chronic haloperidol administration on the number of striatal neurons in guinea pigs. For this purpose, adult male guinea pigs were given daily injections of 1, 2 or 3 mg/kg of haloperidol for 6 weeks. After treatment, the animals were anesthetized via brief inhalation...
journal_title：Folia neuropathologica
pub_type： 杂志文章
doi：
更新日期：2011-01-01 00:00:00
abstract：:The post-mortem neuropathological investigations were carried out on 20 female New Zealand rabbits. Two main types of changes were found: inflammatory, including meningeal and perivascular infiltrates, and thrombotic within the nervous tissue. The findings revealed that active process within the CNS persists at least ...
journal_title：Folia neuropathologica
pub_type： 杂志文章
doi：
更新日期：1999-01-01 00:00:00
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：INTRODUCTION:To investigate the effects of crocin on proliferation and migration of endogenous neural stem cells and the Notch1 signalling pathway in rats after cerebral ischemia reperfusion. MATERIAL AND METHODS:SD rats were randomly divided into the sham operation group, model group and administration group (crocin)...
journal_title：Folia neuropathologica
pub_type： 杂志文章
doi：10.5114/fn.2020.100063
更新日期：2020-01-01 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
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：:In our previous work, we have discussed the importance of neurofilaments in determination of the age of brain contusions. The purpose of this paper is to examine a possibility of angiogenesis-related assessment of the age of brain contusions by means of morphometric analysis of the CD34 expression in the contused site...
journal_title：Folia neuropathologica
pub_type： 杂志文章
doi：10.5114/fn.2018.78699
更新日期：2018-01-01 00:00:00
abstract：:Epithelioid schwannomas occur predominantly in relation to peripheral nerves and are associated with histological and clinical malignancy. However, a variant of the epithelioid schwannoma involving cranial nerves is extremely rare. In this study we report three cases of epithelioid schwannomas originating from the aco...
journal_title：Folia neuropathologica
pub_type： 杂志文章
doi：
更新日期：2000-01-01 00:00:00
