Abstract：
:In almost all of the earlier reported cases of Kufs' disease, the adult form of ceroid lipofuscinosis, the diagnosis was ascertained by cerebral tissue examination, while peripheral biopsy examination revealed an apparent poor diffusion of specific lipofuscinic deposits, the finger print profiles (FPs). We report the ultrastructural data from skin, muscle and rectal biopsy specimens from two siblings, both still living, who present clinical features of Kufs' disease. We observed the presence of FPs in locations that differ from the previous classic reports. Our results emphasize the value of extracerebral biopsies for the diagnosis of Kufs' disease in vivo, and suggest some physiopathological assumptions based on vascular wall involvement.
journal_name
Acta Neuropatholjournal_title
Acta neuropathologicaauthors
Gelot A,Maurage CA,Rodriguez D,Perrier-Pallisson D,Larmande P,Ruchoux MMdoi
10.1007/s004010050866subject
Has Abstractpub_date
1998-07-01 00:00:00pages
102-8issue
1eissn
0001-6322issn
1432-0533journal_volume
96pub_type
杂志文章abstract：:Circumscribed pink areas 0.3-1.0 cm in diameter seen in deeper parts of otherwise well-fixed brains are usually ascribed to inadequate fixation. Twenty-three patients with pink areas in their fixed brains had evidence of inflammation in at least one organ. Blood vessels in the pink areas contained bacteria. Postmortem...
journal_title：Acta neuropathologica
pub_type： 杂志文章
doi：10.1007/BF00687020
更新日期：1985-01-01 00:00:00
abstract：:Continuous intrathecal infusion of N-methyl-D-aspartate (NMDA) at the level of the lumbar enlargement of the spinal cord in middle-aged rats produced dose-dependent toxicity of spinal cord neuronal systems. Toxicity was enhanced by coadministration of glycine, but was significantly reduced when NMDA was co-administere...
journal_title：Acta neuropathologica
pub_type： 杂志文章
doi：10.1007/BF00662631
更新日期：1990-01-01 00:00:00
abstract：:Immunohistochemical studies of monoamine neurons were performed to evaluate toxic effects of 1-methyl-4-phenyl-1,2,3,6-tetrahydropyridine (MPTP) on young adult mice and compare them with those of their offspring. Mice, 9-11 weeks old (C57BL/6J), injected subcutaneously with a large dose of MPTP (17 mg/kg per day) duri...
journal_title：Acta neuropathologica
pub_type： 杂志文章
doi：10.1007/BF00294662
更新日期：1989-01-01 00:00:00
abstract：:Isocitrate dehydrogenase 1 (IDH1) mutations are frequent in astrocytomas, oligoastrocytomas and oligodendrogliomas. We previously reported the generation of a mutation-specific antibody that specifically detects R132H mutated IDH1 protein (clone H09). Here, we investigate the feasibility of H09 immunohistochemistry to...
journal_title：Acta neuropathologica
pub_type： 杂志文章
doi：10.1007/s00401-010-0770-2
更新日期：2011-02-01 00:00:00
abstract：:The pathological changes in the nucleus basalis of Meynert (nbM) in 10 autopsied cases with Pick's disease were studied in comparison with 15 age-matched controls. Both the number and density of nerve cells and the degree of fibrillary gliosis were examined at the anterior, intermediate, and posterior divisions of the...
journal_title：Acta neuropathologica
pub_type： 杂志文章
doi：10.1007/BF00687402
更新日期：1989-01-01 00:00:00
abstract：:In Alzheimer's disease (AD) and other tauopathies, the cytosolic protein Tau misfolds and forms intracellular aggregates which accumulate within the brain leading to neurodegeneration. Clinical progression is tightly linked to the progressive spread of Tau pathology throughout the brain, and several lines of evidence ...
journal_title：Acta neuropathologica
pub_type： 杂志文章
doi：10.1007/s00401-018-1911-2
更新日期：2018-11-01 00:00:00
abstract：:The left and right recurrent laryngeal nerves and peroneal nerves from two groups of foals, one less than 1 month of age and the other 6 months of age, were examined by light and electron microscopy. While there was no evidence of fiber loss on light microscopy, occasional onion bulbs, regenerating clusters and swolle...
journal_title：Acta neuropathologica
pub_type： 杂志文章
doi：10.1007/BF00227825
更新日期：1992-01-01 00:00:00
abstract：:The selective toxicity of silica dust for macrophages has been used to assess the role of these cells in experimental allergic neuritis (EAN). Inbred Lewis rats were inoculated with bovine dorsal roots in Freund's complete adjuvant (day 0). In two experiments, animals received 200 mg of silica dust in 1 cm3 of saline ...
journal_title：Acta neuropathologica
pub_type： 杂志文章
doi：10.1007/BF00687614
更新日期：1984-01-01 00:00:00
abstract：:A desmoplastic primary cerebral neuroblastoma originating in the frontal lobe of a boy who died at the age of 6 years contained dense core vesicles within the cytoplasm of neoplastic cells as evidence of neuronal differentiation. Sarcomatous transformation had occurred at the time of recurrence. At autopsy, he also ha...
journal_title：Acta neuropathologica
pub_type： 杂志文章
doi：10.1007/BF00688540
更新日期：1980-01-01 00:00:00
abstract：:The central distal axonopathy induced in dogs by the administration of high doses of clioquinol is contrasted with the central-peripheral distal axonopathy precipitated by intoxication with 2,5-hexanedione. Mature, pure-bred Beagle dogs received a daily oral dose of 400 mg/kg of clioquinol for up to 7 months, or 1 ml ...
journal_title：Acta neuropathologica
pub_type： 杂志文章
doi：10.1007/BF00690549
更新日期：1979-08-01 00:00:00
abstract：:Stereological estimates of mean volumes, surface areas, and cortical thicknesses were obtained on formalin-fixed brains from 19 men with AIDS and 19 controls. Volumes of neocortex, white matter, central brain nuclei, ventricles and archicortex were estimated using point counting and Cavalieri's unbiased principle for ...
journal_title：Acta neuropathologica
pub_type： 杂志文章
doi：10.1007/BF00334671
更新日期：1993-01-01 00:00:00
abstract：:Six medulloblastomas were studied by electron microscopy. Two features were found which seem to be constant and essential characteristics of medulloblastoma. First, cell junctions are abundant between tumor cells. These are mostly desmosome-like but other, closer junctions, were also seen. Second, the capillary endoth...
journal_title：Acta neuropathologica
pub_type： 杂志文章
doi：10.1007/BF00685966
更新日期：1975-10-27 00:00:00
abstract：:Cavernous malformations (CVMs) and arteriovenous malformations (AVMs) were immunostained for three smooth muscle cell (SMC)-specific protein markers (smooth muscle alpha-actin, SM1 and SM2). Smooth muscle alpha-actin, a widely used marker of SMCs, is reportedly one of the earliest proteins expressed during differentia...
journal_title：Acta neuropathologica
pub_type： 杂志文章
doi：10.1007/s004010100362
更新日期：2001-09-01 00:00:00
abstract：:Onion bulbs are concentric lamellar structures formed by Schwann or perineurial cells, which may be seen in several generalized or localized diseases of the peripheral nerve. There is debate regarding the pathogenesis of localized tumefactions displaying these microscopic structures. We report the fifth case, to our k...
journal_title：Acta neuropathologica
pub_type： 杂志文章
doi：10.1007/pl00007408
更新日期：2000-01-01 00:00:00
abstract：:The gross and histopathological findings in the brain and spinal cord of five Alaskan Husky dogs with a novel incapacitating and ultimately fatal familial and presumed hereditary neurodegenerative disorder are described. Four dogs presented with neurological deficits before the age of 1 year (7-11 months) and one anim...
journal_title：Acta neuropathologica
pub_type： 杂志文章
doi：10.1007/s004010051192
更新日期：2000-07-01 00:00:00
abstract：:A limited cortical resection including the rolandic fissure and the pre- and postcentral cortical regions was carried out in a patient suffering from epilepsia partialis continua resistant to antiepileptic drugs. The histological examination revealed several foci of very large neurons distributed with no laminar organ...
journal_title：Acta neuropathologica
pub_type： 杂志文章
doi：10.1007/BF00299415
更新日期：1992-01-01 00:00:00
abstract：:α-Synuclein (αSyn) histopathology defines several neurodegenerative disorders, including Parkinson's disease, Lewy body dementia, and Alzheimer's disease (AD). However, the functional link between soluble αSyn and disease etiology remains elusive, especially in AD. We, therefore, genetically targeted αSyn in APP trans...
journal_title：Acta neuropathologica
pub_type： 杂志文章
doi：10.1007/s00401-018-1886-z
更新日期：2018-10-01 00:00:00
abstract：:The activities of three enzymes of the hexose monophosphate pathway (HMP) were measured in frozen samples of rat cerebral cortex and ethylnitrosourea-induced tumors of the rat nervous system. Results show that in most tumors, adequate amounts of glucose-6-phosphate dehydrogenase (G6PDH), 6-phosphogluconate dehydrogena...
journal_title：Acta neuropathologica
pub_type： 杂志文章
doi：10.1007/BF00690440
更新日期：1978-03-15 00:00:00
abstract：:The effect of induced hypertension instituted after a 2-h delay following middle cerebral artery occlusion (MCAO) on brain edema formation and histochemical injury was studied. Under isoflurane anesthesia, the MCA of 14 spontaneously hypertensive rats was occluded. In the control group (n = 7), the mean arterial press...
journal_title：Acta neuropathologica
pub_type： 杂志文章
doi：10.1007/BF00305878
更新日期：1991-01-01 00:00:00
abstract：:PICALM, a clathrin adaptor protein, plays important roles in clathrin-mediated endocytosis in all cell types. Recently, genome-wide association studies identified single nucleotide polymorphisms in PICALM gene as genetic risk factors for late-onset Alzheimer disease (LOAD). We analysed by western blotting with several...
journal_title：Acta neuropathologica
pub_type： 杂志文章
doi：10.1007/s00401-013-1111-z
更新日期：2013-06-01 00:00:00
abstract：:Immunohistochemical analysis of inflammatory cell density and infiltrate subpopulations in 42 meningiomas was performed. Evaluation of infiltrating cell density was carried out by cell counting. Meningothelial and fibroblastic meningiomas contained an average of 3% mononuclear cells; the few lymphocytes were localized...
journal_title：Acta neuropathologica
pub_type： 杂志文章
doi：10.1007/BF00294381
更新日期：1989-01-01 00:00:00
abstract：:The amyloid cascade hypothesis of Alzheimer's disease (AD) is testable: it implies that interference with Abeta aggregation and plaque formation may be therapeutically useful. Abeta42 immunisation of amyloid precursor protein (APP) transgenic mice prevented plaque formation and caused removal of existing plaques. The ...
journal_title：Acta neuropathologica
pub_type： 杂志文章,评审
doi：10.1007/s00401-010-0719-5
更新日期：2010-09-01 00:00:00
abstract：:This study was designed to compare the degree of reactive astrogliosis occurring around a puncture wound in the brain of normal rats and at different intervals after a similar puncture wound in rats with a portocaval anastomosis. The gliosis was evaluated by the number of astrocytes, the thickness of their processes a...
journal_title：Acta neuropathologica
pub_type： 杂志文章
doi：10.1007/BF00310926
更新日期：1991-01-01 00:00:00
abstract：:The spinal cord of 20 patients with amyotrophic lateral sclerosis (ALS) and 5 patients with lower motor neuron disease (LMND) were investigated immunohistochemically using anti-human excitatory amino acid transporter 1 (EAAT1) and EAAT2 antibodies which are the astrocytic transporters. The purpose of the study was to ...
journal_title：Acta neuropathologica
pub_type： 杂志文章
doi：10.1007/s004019900159
更新日期：2000-08-01 00:00:00
abstract：:A morphometric study of the basal nucleus of Meynert (bnM) has been performed in a 70-year-old man with a 4-year history of pathologically confirmed progressive supranuclear palsy (PSP). An important neuronal loss (52%) was demonstrated in the bnM. This finding has not been previously documented with morphometric meth...
journal_title：Acta neuropathologica
pub_type： 杂志文章
doi：10.1007/BF00697397
更新日期：1983-01-01 00:00:00
abstract：:The diagnosis of infantile neuro-axonal dystrophy (INAD) in a 5-year-old patient was confirmed by the ultrastructural study of neuromuscular, skin and conjunctival biopsy specimens. Abnormal networks of smooth membranous, lamellar and tubular profiles were found in presynaptic terminals and in conjunctival and dermal ...
journal_title：Acta neuropathologica
pub_type： 杂志文章
doi：10.1007/BF00702677
更新日期：1979-03-15 00:00:00
abstract：:Pilocytic astrocytomas are the most common astrocytic tumors of childhood and differ clinically and histopathologically from those astrocytomas that affect adults. Studies of adult astrocytic tumors have revealed allelic losses on chromosomes 10, 17p, 19q and alterations in the epidermal growth factor receptor (EGFR) ...
journal_title：Acta neuropathologica
pub_type： 杂志文章
doi：10.1007/BF00454903
更新日期：1993-01-01 00:00:00
abstract：:In the nerve tissue with proliferating macroglia cells were observed a lowered oxygen consumption, an increased aerobic glycolysis and alanine formation and a higher alanine aminotransferase and glutamate dehydrogenase activity than in the control tissue in the homogenates and in the cell sap fraction. The substrate s...
journal_title：Acta neuropathologica
pub_type： 杂志文章
doi：10.1007/BF00684665
更新日期：1976-03-15 00:00:00
abstract：:Three cases of spontaneous olfactory neuroblastoma (ONB) in domestic cats were morphologically and immunocytochemically characterized. Diagnostic light microscopic features included Flexner and Homer-Wright rosettes, while ultrastructurally the cells had neuritic processes, intracellular intermediate filaments, and in...
journal_title：Acta neuropathologica
pub_type： 杂志文章
doi：10.1007/BF00294617
更新日期：1990-01-01 00:00:00
abstract：:An experiment was designed to examine the course of degeneration, phagocytosis, and regeneration in the central nervous system following surgical deafferentation. The anterior cerebellar vermis was ablated in young male rats. The animals were sacrificed by perfusion at postoperative times ranging from 24 hrs to 6 mont...
journal_title：Acta neuropathologica
pub_type： 杂志文章
doi：10.1007/BF00688396
更新日期：1975-12-19 00:00:00
