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  • 11
    Electronic Resource
    Electronic Resource
    Springer
    Acta neuropathologica 97 (1999), S. 275-278 
    ISSN: 1432-0533
    Keywords: Key words Down’s syndrome ; Metabotropic glutamate receptor ; mGluR5 ; Glutamate
    Source: Springer Online Journal Archives 1860-2000
    Topics: Medicine
    Notes: Abstract We investigated the expression of metabotropic glutamate receptor 5 (mGluR5), a subtype of group I mGluRs, in the cerebral cortex of cases with Down’s syndrome (DS), using immunohistochemistry and immunoblotting with this receptor. The up-regulation of mGluR5 was observed in DS by immunohistochemistry, and atrophic pyramidal neurons were immunolabelled in elderly DS cases. Western blotting confirmed the increased expression in DS brains. Since group I mGluR regulates the metabolism of amyloid precursor protein (APP) and accelerates its processing into non-amyloidogenic APP, the overexpression of mGluR5 may be related to the pathological state of APP metabolism in DS.
    Type of Medium: Electronic Resource
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  • 12
    Electronic Resource
    Electronic Resource
    Springer
    Acta neuropathologica 100 (2000), S. 506-512 
    ISSN: 1432-0533
    Keywords: Key words Telencephalin ; Holoprosencephaly ; Cerebral cortex ; Glomerular structure ; Immunohistochemistry
    Source: Springer Online Journal Archives 1860-2000
    Topics: Medicine
    Notes: Abstract Telencephalin (TLN), a telencephalon-specific glycoprotein, is exclusively expressed in neurons of the mammalian telencephalon. In the normally developing human brain, TLN immunoreactivity appeared and increased from 35 gestational weeks (GW) in the temporal cortex, and reached adult level at 5 months of postnatal age, being strong in the molecular layer, and weak in the external and internal granular layers. TLN expression corresponded with the development of neuronal dendrites and synapses. In brains with holoprosencephaly TLN immunoreactivity was already strong from as early as 28 GW. Staining was weak in the molecular layer, but strong in the external sparse and middle cellular layers in most cases. Notably, TLN was abundant in the glomerular structures in the internal pyramidal and multiform layers of fetal brains with alobar holoprosencephaly, which disappeared with increasing age. These results indicate premature and ectopic development of the dendrites and synaptic network in holoprosencephaly.
    Type of Medium: Electronic Resource
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  • 13
    ISSN: 1432-0533
    Keywords: Key words Myotonic dystrophy ; Myotonic dystrophy protein kinase ; Immunohistochemistry ; Human brain
    Source: Springer Online Journal Archives 1860-2000
    Topics: Medicine
    Notes: Abstract To investigate the pathophysiologic role of myotonic dystrophy protein kinase (DMPK) in the brain in myotonic dystrophy (MD), the developmental characteristics of DMPK immunoreactivity in the central nervous system and its alteration with disease were studied. Eleven patients’ brain with MD (5 congenital form, 6 adult form) were examined by immunohistochemistry using a specific antibody against synthetic DMPK peptides, anti-peptide DM1, and compared with 30 control brains, including 16 age-matched controls. In controls, DM1-immunoreactive neurons appeared in the early fetal frontal cortex and cerebellar granule cell layer, persisting through 29 weeks of gestation and then disappearing. In contrast, immunoreactive neurons continued to persist in the cerebral cortex and cerebellar granule cell layer of MD patients. When we counted DM1-immunoreactive neurons, the increase over controls was greater in the congenital form of MD than in the adult form, and was greater in the cerebrum than in the cerebellum in both forms of MD. DM1 immunostaining was predominantly nuclear, mirroring Western blotting of subcellular fractions. Differences in DM1 expression related to development and to the two forms of MD may be closely related to the pathogenesis of mental retardation in this disease.
    Type of Medium: Electronic Resource
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  • 14
    ISSN: 1432-0533
    Keywords: Key words Periventricular leukomalacia ; Osteopontin ; Iba1 ; Axonal death ; Calcification
    Source: Springer Online Journal Archives 1860-2000
    Topics: Medicine
    Notes: Abstract Osteopontin (OPN) is a bone matrix protein expressed my macrophages and related to the process of tissue calcification, and is also known to protect ischemic cells. To understand how OPN is involved in the process of ischemic axonal death in periventricular leukomalacia (PVL), we examined the immunoreactivity of OPN and ionized calcium binding adaptor molecule 1 (Iba1; microglia/ macrophage marker) at various stages of PVL. OPN immunoreactivity paralleled the number of Iba1-positive foam cells; a finding which suggests the production of OPN protein by foam cells. OPN immunoreactivity was not found in either normal white matter or acute PVL lesions, but was detected at the subacute and chronic stages in swollen and calcified axons bordering the ischemic zone. These findings suggest that OPN is closely associated with death of swollen axons at the periphery of the ischemic zone, regulating the presence or absence of calcification.
    Type of Medium: Electronic Resource
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  • 15
    ISSN: 1432-0533
    Keywords: Key words Dementia ; Down’s syndrome ; Down’s ; syndrome cell adhesion molecule ; Mental retardation ; Senile plaque
    Source: Springer Online Journal Archives 1860-2000
    Topics: Medicine
    Notes: Abstract We studied the expression of Down’s syndrome cell adhesion molecule (DSCAM) in Down’s syndrome (DS) and control brains, using antisera against peptide fragments of DSCAM. On Western blots of human, mouse and rat brain homogenates, the antisera recognized a product at approximately 200 kDa. In the brain of a 2-year-old patient with DS, Western blotting revealed an overexpression of DSCAM compared to an age-matched control. Immunohistochemistry demonstrated DSCAM in the cerebral and cerebellar white matter of both control and DS subjects, in accordance with the temporal and spatial sequence of myelination. In DS brains, immunoreactivity for DSCAM, compared to that for controls, was enhanced in the Purkinje cells at all ages, and in the cortical neurons during adulthood. In demented DS patients, DSCAM immunoreactivity was observed in the core and periphery of senile plaques. The pattern of DSCAM expression suggests that it may play a role as an adhesion molecule regulating myelination. The overexpression of DSCAM may also play a role in the mental retardation and the precocious dementia of DS patients, although the mechanism of neuronal dysfunction is undetermined.
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  • 16
    ISSN: 1432-1920
    Keywords: CT ; Ehlers-Danlos syndrome
    Source: Springer Online Journal Archives 1860-2000
    Topics: Medicine
    Notes: Summary Three patients with Ehlers-Danlos syndrome were reported. Unusual findings on computed tomography were seen in two of the three patients. One case showed peculiar and marked dilatation of the 4th ventricle, supracerebellar cistern and lateral ventricle. The other case presented disproportionate enlargement of the anterior horn of the lateral ventricle. These CT findings in the two patients suggest that developmental abnormalities may constitute a structural defect.
    Type of Medium: Electronic Resource
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  • 17
    ISSN: 1432-1920
    Keywords: Down's syndrome ; CT scanning ; morphometric change ; basal ganglia calcification ; preniature aging ; small posterior fossa
    Source: Springer Online Journal Archives 1860-2000
    Topics: Medicine
    Notes: Summary We report characteristic and morphometric changes of cranial computed tomography (CT) with increasing age in 56 patients with Down's syndrome aged from 0 month to 37 years. Patients were compared with 142 normal controls aged 0 to 59 years. Width of ventricles, Sylvian fissures, posterior fossa, pons and cisterna magna were measured on CT. The incidences of the cavum septi pellucidi, cavum vergae and cavum veli interpositi and high density in the basal ganglia were examined. There was high incidence (10.7%) of bilateral calcification of basal ganglia in Down's syndrome, although that of pineal body and choroid plexus calcification was similar in Down's syndrome and controls. Basal ganglia calcification is more frequently seen in young Down's syndrome and may be related to the premature aging characteristic of Down's syndrome. The CT in Down's syndrome showed relatively small posterior fossa, small cerebellum, small brain stem and relatively large Sylvian fissures in those under one year of age. There was a high frequency of midline cava and large cisterna magna. There were no significant atrophic changes on CT except after the fifth decade comparing with controls.
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  • 18
    ISSN: 1435-232X
    Source: Springer Online Journal Archives 1860-2000
    Topics: Biology , Medicine
    Notes: Summary Cytoskeletal F-actin of formaldehide fixed, acetone-extracted cells was stained with 7-nitrobenz-2-oxa-1,3-diazole(NBD)-phallacidin. Skin fibroblasts from apparently normal fetuses, children and adults, and from patients with tuberous sclerosis (TS) (6 strains) and von Recklinghausen's neurofibromatosis (NF) (4 strains) were examined. Skin fibroblasts from patients with adenomatosis of the colon and rectum (ACR) and basal cell naevus syndrome (BCN) and simian virus 40 (SV40) transformed skin fibroblasts were also included. About 75% of the SV40 transformed cells had less or no organized actin fibers, as repeatedly reported for many virally transformed cell systems. In rapidly proliferating cultures of fibroblasts from normal subjects, highly organized action fibers were seen in 74.8 and 77.3% of the cells from fetal and child cell cultures, respectively, and in 84.0% of cells from adult cell cultures at the same low levels ofin vitro passage (p〈0.001). This suggests that the organization of actin fibers increases with age and that the change is similar to that duringin vitro senescence. In fibroblasts from patients with TS and NF, the organization of actin fibers was almost the same as that of normal fibroblasts.
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  • 19
    ISSN: 1435-232X
    Source: Springer Online Journal Archives 1860-2000
    Topics: Biology , Medicine
    Notes: Summary Clinicopathological and cytogenetic findings in a female infant with 46,XX,i(18q) were reported. She had mixed stigmata of both trisomy 18 and monosomy 18p. Most clinical and pathological findings in this case were compatible with trisomy 18, but several findings such as round flat face, flat nasal bridge, large ears, short webbed neck, low posterior hair line and costovertebral anomalies were compatible with monosomy 18p. Neuropathological study including Golgi study showed minimal dysmorphic abnormalities as seen in trisomy 18.
    Type of Medium: Electronic Resource
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  • 20
    ISSN: 1435-232X
    Keywords: Key words Peroxisomes ; d-3-Hydroxyacyl-CoA dehydra-tase/d-3-hydroxyacyl-CoA dehydrogenase bifunctional pro-tein deficiency ; Prenatal diagnosis
    Source: Springer Online Journal Archives 1860-2000
    Topics: Biology , Medicine
    Notes: Abstract The prenatal diagnosis of peroxisomal d-3-hydroxyacyl-coenzyme A (CoA) dehydratase/ d-3-hydro-xyacyl-CoA dehydrogenase bifunctional protein (d-BP) deficiency was performed by peroxisomal β-oxidation assay, indirect immunofluorescence staining, immunoblot analysis, and gene analysis of cultured amniocytes obtained from a fetus at 16 weeks' gestational age. β-Oxidation activity, measured by [1-14C] lignoceric acid oxidation, was markedly decreased compared with the controls. Large peroxisomes were readily identified by immunofluorescence staining with anti-human catalase, as was found in the reported patients. Immunoreactive d-BP material was absent on immunoblot analysis and immunofluorescence staining with anti-human d-BP. Reverse transcriptase polymerase chain reaction (RT-PCR) analysis revealed the presence of the same 237-bp deletion in the cDNA as that detected in a sibling (the proband). The autopsied fetus showed the characteristic facial appearance and d-BP was deficient on immunoblot and immunohistopathological studies of the fetal tissues. No neuronal migration disorder was identified. This seems to be the first prenatal diagnosis of d-BP deficiency.
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