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 clinical features have been reported. The presence of uncommon clinical features (peripheral neuropathy, cardiomyopathy) may result in misdirected molecular diagnostics. Using the next generation sequencing approach (NGS), we were able to diagnose WARBM1 syndrome by detection of a new mutation within the RAB3GAP1 gene. We have detected some DNA variants which may be responsible for cardiomyopathy. We did not find any obvious pathogenic mutation within a set of genes known to be responsible for hereditary motor and sensory neuropathy (HMSN). We conclude that: (i) in clinically delineated syndromes, a classical single-gene oriented approach may be not conclusive especially in the presence of rare clinical features, (ii) peripheral neuropathy and cardiomyopathy are rare additional symptoms coexisting with WARBM1, (iii) a pleiotropic effect of a single point mutation is sufficient to be causative for WARBM1 and (iv) more WARBM-affected patients should be reported to delineate a complete phenotype.
journal_name
Folia Neuropatholjournal_title
Folia neuropathologicaauthors
Kabzińska D,Mierzewska H,Senderek J,Kochański Adoi
10.5114/fn.2016.62537subject
Has Abstractpub_date
2016-01-01 00:00:00pages
273-281issue
3eissn
1641-4640issn
1509-572Xpii
28390journal_volume
54pub_type
杂志文章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
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doi：
更新日期：2011-01-01 00:00:00
abstract：:We report here a detailed ultrastructural study of a brain biopsy along with post-mortem brain and optic nerve specimens from a case of Krabbe disease, a relatively rare leukodystrophy caused by a mutation in the gene for galactocerebrosidase (GALC) mapped to the 14q31 region of chromosome 14. GALC is responsible for ...
journal_title：Folia neuropathologica
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更新日期：1997-01-01 00:00:00
abstract：:Cerebral ischemia injury seriously endangers human health and its molecular mechanism is still not fully understood. microRNA-223 (miR-223) has been reported to be involved in many physiological functions but the specific role of miRNA-223 in ischemic neuronal injury is still unclear. An oxygen-glucose deprivation and...
journal_title：Folia neuropathologica
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doi：10.5114/fn.2018.74659
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abstract：:The size frequency distributions of beta-amyloid (A beta) and prion protein (PrPsc) deposits were studied in Alzheimer's disease (AD) and the variant form of Creutzfeldt-Jakob disease (vCJD) respectively. All size distributions were unimodal and positively skewed. A beta deposits reached a greater maximum size and the...
journal_title：Folia neuropathologica
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doi：
更新日期：2007-01-01 00:00:00
abstract：:The 'prion-like' transfer of pathogenic proteins may play a role in the pathogenesis of frontotemporal lobar degeneration (FTLD). Propagation of such proteins along anatomical pathways may give rise to specific spatial patterns of the 'signature' neuronal cytoplasmic inclusions (NCI) characteristic of these disorders....
journal_title：Folia neuropathologica
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doi：10.5114/fn.2017.70482
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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
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doi：10.5114/fn.2018.76614
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journal_title：Folia neuropathologica
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更新日期：2007-01-01 00:00:00
abstract：:The pineal gland is an organ involved in regulation of homeostasis and body rhythms. It plays an important role in the growth foetuses and adaptation of newborns to new environmental conditions. The requirements of foetuses and newborns progressively change during development. The purpose of the study was to evaluate ...
journal_title：Folia neuropathologica
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更新日期：2003-01-01 00:00:00
abstract：:Ganglioglioma is a tumor composed of neoplastic neurons and neoplastic glial cells mixed in different proportions. Astrocytes are the essential glial component. The tumor proliferates mostly in the temporal lobe cortex, scarcely in other areas of the brain. In ganglioglioma the population of ganglionic neurons is very...
journal_title：Folia neuropathologica
pub_type： 杂志文章
doi：
更新日期：1999-01-01 00:00:00
abstract：:The high incidence and the devastating consequences of stroke call for efficient therapies but despite extensive experimental evidence of neuroprotective improvements, most clinical treatments have failed. The poor translational success is attributed to the inappropriate selection of clinically irrelevant animal model...
journal_title：Folia neuropathologica
pub_type： 杂志文章,评审
doi：
更新日期：2009-01-01 00:00:00
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journal_title：Folia neuropathologica
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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：
更新日期：2001-01-01 00:00:00
abstract：:The present study examined the effect of DS exposure on median nerve development in rats during prenatal life. Pregnant female rats were divided into three groups: a control group, a saline group and a DS group. Offspring of these animals were divided into 2 subgroups: 4 weeks old and 20 weeks old. Nerve samples were ...
journal_title：Folia neuropathologica
pub_type： 杂志文章
doi：10.5114/fn.2013.34199
更新日期：2013-01-01 00:00:00
abstract：:There is an increased risk of stroke in patients with HIV infection. One of the mechanisms is production of anticardiolipin (aCL) antibodies, induced by the virus. Many studies have documented a high incidence of aCL antibodies in patients with HIV infection and the increased risk of stroke, although there is no such ...
journal_title：Folia neuropathologica
pub_type： 杂志文章
doi：
更新日期：2005-01-01 00:00:00
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journal_title：Folia neuropathologica
pub_type： 杂志文章
doi：
更新日期：2001-01-01 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：:Increased pineal calcifications and decreased pineal melatonin biosynthesis, both age related, support the notion of a pineal bio-organic timing mechanism. The role of calcification in the pathogenesis of pineal gland dysfunction remains unknown but the available data document that calcification is an organized, regul...
journal_title：Folia neuropathologica
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doi：
更新日期：2010-01-01 00:00:00
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journal_title：Folia neuropathologica
pub_type： 杂志文章
doi：
更新日期：1996-01-01 00:00:00
abstract：:The subcellular distribution of glutamate and GABA in synapses of Mongolian gerbils hippocampus was examined using post-embedding immunogold staining method for electron microscopy. Immunolabelling was performed with 10 nm gold-antibody complexes for glutamate and GABA. The gold particle densities gave reliable inform...
journal_title：Folia neuropathologica
pub_type： 杂志文章
doi：
更新日期：1995-01-01 00:00:00
abstract：:Cerebellar degeneration belongs to indirect effects of malignancy on the nervous system. Although the involvement of immune system is accepted as a hypothesis of its pathology, the clinical observations of ineffective immunomodulatory therapy suggest complex pathomechanisms, which await elucidation. The aim of this st...
journal_title：Folia neuropathologica
pub_type： 杂志文章
doi：
更新日期：2010-01-01 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
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doi：10.5114/fn.2020.94009
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abstract：:A neuropathological analysis of 172 cases of AIDS in adults was carried out, to determine the occurrence and nature of the opportunistic infections of the central nervous system (CNS). The material comprised 155 cases of men, and 17 women. Mean age of patients was 38 years. Collection under study originated from the p...
journal_title：Folia neuropathologica
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doi：
更新日期：1998-01-01 00:00:00
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journal_title：Folia neuropathologica
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doi：
更新日期：2004-01-01 00:00:00
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journal_title：Folia neuropathologica
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doi：10.5114/fn.2015.56550
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journal_title：Folia neuropathologica
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更新日期：2003-01-01 00:00:00
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journal_title：Folia neuropathologica
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doi：
更新日期：2000-01-01 00:00:00
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journal_title：Folia neuropathologica
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doi：
更新日期：2004-01-01 00:00:00
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journal_title：Folia neuropathologica
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journal_title：Folia neuropathologica
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