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, in whom first MRI changes were not suggestive of GLD. Additionally, in Patient 1, the residual β-galactocerebrosidase activity was rather high leading to difficulties in the diagnosing process. Molecular analysis of the GALC and PSAP genes in Patient 1, and of the GALC gene in Patient 2 confirmed the diagnosis of Krabbe disease. We have detected a novel mutation in the GALC gene in Patient 2, a deletion in exon 16, leading to the STOP codon (c.1851delT, p.Y617X). This deletion interrupts the reading frame prematurely: codon 617 is replaced by a STOP codon. A careful clinical description of presented patients is followed by a discussion of radiological, biochemical, genetic, and neuropathological studies. It concludes with a discussion of the potential difficulties encountered when diagnosing patients with rare diseases. In Patient 1 the postmortem examination of CNS revealed the presence of globoid cells grouped in multiple clusters seen in the white matter near the vessels. We would like to emphasize that proper clinical-radiological-biochemical co-operation and exchange of information between parents and specialists is a key issue in the diagnosis of rare and difficult neurological diseases, in particular, if the clinical picture is inconclusive.
journal_name
Folia Neuropatholjournal_title
Folia neuropathologicaauthors
Szymańska K,Ługowska A,Laure-Kamionowska M,Bekiesińska-Figatowska M,Gieruszczak-Białek D,Musielak M,Eichler S,Giese AK,Rolfs Adoi
10.5114/fn.2012.32364subject
Has Abstractpub_date
2012-01-01 00:00:00pages
346-56issue
4eissn
1641-4640issn
1509-572Xpii
19882journal_volume
50pub_type
杂志文章,评审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)...
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abstract：:A contribution of B cells and autoantibodies has been demonstrated in MS leading to interest in the use of such autoantibodies as diagnostic or prognostic markers and as a basis for immunomodulatory therapy. ELISA and Western fail to detect reactivity against epitopes displayed by native antigens expressed on myelin s...
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journal_title：Folia neuropathologica
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journal_title：Folia neuropathologica
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journal_title：Folia neuropathologica
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journal_title：Folia neuropathologica
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journal_title：Folia neuropathologica
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journal_title：Folia neuropathologica
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journal_title：Folia neuropathologica
pub_type： 杂志文章
doi：
更新日期：1999-01-01 00:00:00
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journal_title：Folia neuropathologica
pub_type： 杂志文章
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journal_title：Folia neuropathologica
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journal_title：Folia neuropathologica
pub_type： 杂志文章
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更新日期：2014-01-01 00:00:00
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journal_title：Folia neuropathologica
pub_type： 杂志文章
doi：
更新日期：2003-01-01 00:00:00
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journal_title：Folia neuropathologica
pub_type： 杂志文章,评审
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更新日期：2013-01-01 00:00:00
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journal_title：Folia neuropathologica
pub_type： 杂志文章
doi：
更新日期：2007-01-01 00:00:00
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journal_title：Folia neuropathologica
pub_type： 杂志文章,评审
doi：
更新日期：1999-01-01 00:00:00
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journal_title：Folia neuropathologica
pub_type： 杂志文章,评审
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,评审
doi：
更新日期：2004-01-01 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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更新日期：2009-01-01 00:00:00
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journal_title：Folia neuropathologica
pub_type： 杂志文章
doi：
更新日期：1995-01-01 00:00:00
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,...
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更新日期：2015-01-01 00:00:00
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更新日期：2010-01-01 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...
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