Abstract:
:We studied the muscle biopsy from an asymptomatic patient with high serum creatine kinase values. Subsarcolemmal and intermyofibrillar granular inclusions were seen at the light microscopy level. Ultrastructural observation showed clusters of cylindrical spirals (CS). CS are nonspecific, morphological finding, so far reported only in a few cases, presenting with a wide variety of clinical phenotypes. The case we describe is peculiar because of the complete lack of clinical symptoms. The nature of the CS is unknown; we studied a possible alteration of cytoskeletal proteins using a set of different antibodies against these structures, but none of them reacted with CS. Also, since CS have been described in association with mitochondrial abnormalities, and since in our case CS were strongly positive when stained for succinate dehydrogenase, we performed specific immunohistochemical and genetic studies which ruled out any major mitochondrial alterations.
journal_name
Acta Neuropatholjournal_title
Acta neuropathologicaauthors
Rapuzzi S,Prelle A,Moggio M,Rigoletto C,Ciscato P,Comi G,Francesca F,Scarlato Gdoi
10.1007/BF00318582subject
Has Abstractpub_date
1995-01-01 00:00:00pages
660-4issue
6eissn
0001-6322issn
1432-0533journal_volume
90pub_type
杂志文章abstract::Neurofibrillary tangles were induced in the motor neurons of the rabbit spinal cord by the intrathecal injection of colchicine, vinblastine, and vincristine. The tangles stained intensely by immunofluorescence and by the peroxidase-anti-peroxidase procedure using neurofilament antisera raised against chicken brain ant...
journal_title:Acta neuropathologica
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doi:10.1007/BF00690460
更新日期:1980-01-01 00:00:00
abstract::Excitotoxic stimulation of NMDA receptors results in the activation of a variety of cellular responses. The inducible transcription factor NF-kappaB is known to be involved in excitotoxic responses by neurons. Here, we show that NF-kappaB activation occurs in a biphasic manner in hippocampal slices following a 20-min ...
journal_title:Acta neuropathologica
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abstract::A simple and reproducible method for cryopreservation of brain tissue from patients with Alzheimer's disease is described. Fresh brain slices (1 cm thick) obtained less than 6 h postmortem are placed in sealed plastic bags, sandwiched between 0.3-cm-thick aluminium sheets, and frozen by placing the entire "sandwich" b...
journal_title:Acta neuropathologica
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doi:10.1007/BF00294305
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abstract::An in vivo method for positively staining dead neurons was developed and compared with an in vitro staining method using acid fuchsin. Neurons previously killed by intracerebral injections of kainic acid were selectively stained by trypan blue within 15 min of its injection in vivo into the central nervous system of r...
journal_title:Acta neuropathologica
pub_type: 杂志文章
doi:10.1007/BF00687254
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abstract::Astrocytic alpha-synuclein-immunoreactive inclusions have recently been noted to develop in sporadic Parkinson's disease (PD). Here, the presence of immunoreactive astrocytes is reported in 14 autopsy cases with clinically diagnosed PD and a neuropathological stage of 4 or higher. The labeled astrocytes occur preferen...
journal_title:Acta neuropathologica
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doi:10.1007/s00401-007-0244-3
更新日期:2007-09-01 00:00:00
abstract::Neurotropic herpesviruses can establish lifelong infection in humans and contribute to severe diseases including encephalitis and neurodegeneration. However, the mechanisms through which the brain's immune system recognizes and controls viral infections propagating across synaptically linked neuronal circuits have rem...
journal_title:Acta neuropathologica
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doi:10.1007/s00401-018-1885-0
更新日期:2018-09-01 00:00:00
abstract::Neurofibromas represent one of the hallmarks of neurofibromatosis 1 (NF1) patients. Tumor progression of neurofibromas to malignant peripheral nerve sheath tumors (MPNST) is a frequent and life threatening complication. To learn more about processes involved in malignant transformation, we evaluated differential gene ...
journal_title:Acta neuropathologica
pub_type: 杂志文章
doi:10.1007/s00401-003-0797-8
更新日期:2004-02-01 00:00:00
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journal_title:Acta neuropathologica
pub_type: 杂志文章
doi:10.1007/s004010050696
更新日期:1997-09-01 00:00:00
abstract::Rat sciatic nerve was assayed for total collagen and total protein both immediately post-mortem and at weekly intervals after death. No significant difference was found in collagen and protein content between corresponding nerve segments assayed fresh and up to 4 weeks post mortem. However, variation was found in peri...
journal_title:Acta neuropathologica
pub_type: 杂志文章
doi:10.1007/BF00692870
更新日期:1980-01-01 00:00:00
abstract::Mislocalization and abnormal deposition of TDP-43 into the cytoplasm (TDP-43 proteinopathy) is a hallmark in neurons of amyotrophic lateral sclerosis (ALS) and frontotemporal lobar degeneration (FTLD). However, the pathogenic mechanism of the diseases linked to TDP-43 is largely unknown. We hypothesized that the failu...
journal_title:Acta neuropathologica
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journal_title:Acta neuropathologica
pub_type: 杂志文章
doi:10.1007/s00401-007-0198-5
更新日期:2007-04-01 00:00:00
abstract::The immunoreactivity to the free radical-related enzymes, nitric oxide synthase (NOS) and superoxide dismutase (SOD), was examined in brain tissue in progressive supranuclear palsy (PSP). To determine the relationship between the immunoexpression of these enzymes and tau-positive, argyrophilic cytoplasmic inclusions, ...
journal_title:Acta neuropathologica
pub_type: 杂志文章
doi:10.1007/s004010050808
更新日期:1998-04-01 00:00:00
abstract::A 17 year-old male, who was mentally and bodily retarded from the age of 7 years. At the age of 16 years, several neurological signs appeared. Pathologically, there was widespread myelin loss and tissue sponginess in the white matter of the cerebrum and cerebellum, bilaterally and symmetrically. A great many Alzheimer...
journal_title:Acta neuropathologica
pub_type: 杂志文章
doi:
更新日期:1976-01-01 00:00:00
abstract::In chronic granulomatous disease (CGD) enzyme-deficient neutrophils and mononuclear cells lack the respiratory burst required for biocidal activity. Recurrent infections lead to granulomas in various organs but brain lesions are rare. In the present case, a 23-year-old male with numerous infections since early childho...
journal_title:Acta neuropathologica
pub_type: 杂志文章
doi:10.1007/BF00293469
更新日期:1991-01-01 00:00:00
abstract::A histopathological study was carried out on the brains of eight ex-boxers (ages 56 to 83) using conventional histological staining methods and immunocytochemistry with antibodies to amyloid beta-protein and the PHF-related tau protein. All cases showed a large number of tau-immunoreactive neurofibrillary tangles and ...
journal_title:Acta neuropathologica
pub_type: 杂志文章
doi:10.1007/BF00308813
更新日期:1991-01-01 00:00:00
abstract::We report the case of an 11-year-old male who developed subacute diffuse polyradiculoneuropathy, associated with digestive symptoms and Epstein-Barr virus infection. Parental consanguinity was present. The laboratory findings including bone marrow smear were consistent with hemophagocytic lymphohistiocytosis (HLH). El...
journal_title:Acta neuropathologica
pub_type: 杂志文章
doi:10.1007/s00401-004-0897-0
更新日期:2004-10-01 00:00:00
abstract::Recently, we described a machine learning approach for classification of central nervous system tumors based on the analysis of genome-wide DNA methylation patterns [6]. Here, we report on DNA methylation-based central nervous system (CNS) tumor diagnostics conducted in our institution between the years 2015 and 2018....
journal_title:Acta neuropathologica
pub_type: 杂志文章
doi:10.1007/s00401-018-1879-y
更新日期:2018-08-01 00:00:00
abstract::The present investigation examined the morphological characteristics of epiplexus macrophages following a single intracisternal injection of the antigen, bacillus Calmette-Guerin (BCG). Three days following injection of BCG (0.5 - 4.0 X 10(8) viable microorganisms), mongrel dogs were perfused with buffered aldehydes. ...
journal_title:Acta neuropathologica
pub_type: 杂志文章
doi:10.1007/BF00690545
更新日期:1979-08-01 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::Pediatric glioblastomas (GBM) including diffuse intrinsic pontine gliomas (DIPG) are devastating brain tumors with no effective therapy. Here, we investigated clinical and biological impacts of histone H3.3 mutations. Forty-two DIPGs were tested for H3.3 mutations. Wild-type versus mutated (K27M-H3.3) subgroups were c...
journal_title:Acta neuropathologica
pub_type: 杂志文章
doi:10.1007/s00401-012-0998-0
更新日期:2012-09-01 00:00:00
abstract::The intracellular localization of myoglobin(Mb) mRNA in the skeletal muscles of normal subjects and patients with Duchenne muscular dystrophy(DMD) or amyotrophic lateral sclerosis(ALS) was examined by in situ hybridization using a biotin-labeled cDNA probe. In cross sections of normal muscles, Mb mRNA signals were dem...
journal_title:Acta neuropathologica
pub_type: 杂志文章
doi:10.1007/BF00369442
更新日期:1993-01-01 00:00:00
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journal_title:Acta neuropathologica
pub_type: 杂志文章
doi:10.1007/BF00688042
更新日期:1986-01-01 00:00:00
abstract::Previous investigators have suggested that proteolysis by calpain, a Ca2+-dependent protease, causes muscle fiber degradation in Duchenne and Becker muscular dystrophies (DMD/BMD). Recent evidence indicates that the nonlysosomal ATP-ubiquitin-dependent proteolytic complex (proteasomes) participates in muscle wasting d...
journal_title:Acta neuropathologica
pub_type: 杂志文章
doi:10.1007/s004010000229
更新日期:2000-12-01 00:00:00
abstract::Mice develop a fatal encephalomyelitis after infection with the Trinidad donkey strain of Venezuelan equine encephalitis (VEE) virus. Adult mice were inoculated intraperitoneally with VEE virus and the brains were examined at different time points. Morphological changes were assessed by histological staining. VEE viru...
journal_title:Acta neuropathologica
pub_type: 杂志文章
doi:10.1007/s004010050626
更新日期:1997-04-01 00:00:00
abstract::Mutations in the fused in sarcoma (FUS) gene are linked to a form of familial amyotrophic lateral sclerosis (ALS), ALS6. The FUS protein is a major component of the ubiquitin-positive neuronal cytoplasmic inclusions in both ALS6 and some rare forms of frontotemporal lobar degeneration (FTLD). The latter are now collec...
journal_title:Acta neuropathologica
pub_type: 杂志文章
doi:10.1007/s00401-012-0984-6
更新日期:2012-09-01 00:00:00
abstract::We studied three siblings and one unrelated patient with cerebrotendinous xanthomatosis (CTX). Of two unrelated patients, we examined biopsies of sural nerve, soleus muscle, and achilles tendon. We also performed neurophysiologic investigations. Another patient died, and a postmortem examination of both brain and spin...
journal_title:Acta neuropathologica
pub_type: 杂志文章
doi:10.1007/BF00688117
更新日期:1984-01-01 00:00:00
abstract::The authors describe in biopsies from 6 cases of Werdnig-Hoffmann disease, including 2 of the more benign type, the ultrastructural typical aspects of denervation. They compare their findings with those of other workers. The striking points are the great variation in the diameter of the muscle fibres and the myofibril...
journal_title:Acta neuropathologica
pub_type: 杂志文章
doi:10.1007/BF00687923
更新日期:1975-01-01 00:00:00
abstract::The paper describes the clinical and morphological features of a congenital neurological disease affecting two in-bred litter-mate kittens. The principal neurological features were ataxia and dysmetria. In one of the kittens light microscopy revealed widespread vacuolation of white and grey matter of the brain and spi...
journal_title:Acta neuropathologica
pub_type: 杂志文章
doi:10.1007/BF00690561
更新日期:1976-06-15 00:00:00
abstract::HTLV-III-like particles were observed within a cell process surrounded by a myelin sheath, in the brain of a 4-year-old boy with AIDS encephalopathy. Similar particles were also observed in the mononuclear macrophage-like cells. ...
journal_title:Acta neuropathologica
pub_type: 杂志文章
doi:10.1007/BF00686627
更新日期:1987-01-01 00:00:00
abstract::A 56-day-old infant with alpha-neuraminidase deficiency, whose clinical features included severe edema of extremities and ascites which resembled those in severe infantile sialidosis, was autopsied. Perforation, whose pathogenesis was unclear, was found on the descending portion of the duodenum. Light and electron mic...
journal_title:Acta neuropathologica
pub_type: 杂志文章
doi:10.1007/BF00688050
更新日期:1986-01-01 00:00:00