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Fragile X syndrome [fra (X)] is currently accepted as the second most frequent chromosomal disorder associated with developmental disability. Although next to Down syndrome in frequency, no postmortem studies of confirmed adult cases had been reported. The autopsy examination of a 62-year-old, moderately retarded man with the fra (X) syndrome confirmed the(More)
RAGE (receptor for advanced glycation end-products) participates in the influx transport of glycated Aβ (amyloid beta) from the blood to the brain. Because little is known of the RAGE operating in brain barriers such as those in the choroid plexus and ependyma, the aim of the present study was to examine the immunodistributions of RAGE and Aβ peptides in(More)
Our material presents two patterns of white matter lesions in the brain of newborns dying with the clinical diagnosis of intrauterine or perinatal pathology: (1) classical periventricular ischemic infarction resulting in coagulative necrosis and (2) diffuse periventricular colliquative necrosis, in some cases involving the center of the cerebral(More)
Light microscopic, histochemical and electron-microscopic studies were made on the brain of a case (No. 1) with Sanfilippo disease, type A. In this case pigment preparations of the isocortex have been demonstrated. Ultrastructural investigations of the skin biopsies (his two male siblings) were also studied (cases 2, 3). Our three siblings of MPS III A,(More)
In this study a comparison of the myelination rate in humans in normal and pathologic conditions was made. The progress of myelination was examined on slides stained by the Klüver-Barrera method and evaluated as to four degrees. The prenatal myelination in the brain stem in a group of newborns who died of pregnancy pathology was correlated with normal brain(More)
There are relatively few studies on microglia of human developing brain thus function and location of these cells at this period of life are unknown. Moreover, all of them concentrated on the cells in very early period of fetal life. To achieve further insight into the participation of microglial cells in the development of the central nervous system the(More)
Development of cerebellum continues over an extremely long period of time extending from the early embryonic phase until the first postnatal years. During an extended time of maturation the cerebellum is vulnerable to harmful agents. A group of cytoplasmic proteins that may protect cells against injury are the calcium binding proteins, among others(More)
The normal laminar organisation of the cerebellar cortex is the result of the precisely controlled migration, differentiation and maturation of the neurons. Occasionally the migrating neurons lose their proper way of migration and form nests of grey matter in the improper place. The aim of this study was to investigate the morphological features of the lost(More)
The object of our report is the presentation of the morphological picture of cerebellar cortex malformation as a sequel of disturbed neuronal migration. In the disarranged tissue, cavities with a network of meningeal tissue and embedded pathological vessels were noted. The external granule cells did not form a proper external granule layer, but moved(More)
Between the neuronal and glial cells there is a close relationship conditioning a tight morphological correlation and proper functional interplay. Disturbed interaction between glial and neuronal components leads to inappropriate neural circuits. The reflection of the failure of neural circuit organisation is the picture of morphological changes of neurons(More)