Abstract:
:Histochemical and electron microscopic studies were performed in an attempt to clarify the muscle pathology in an 18-year-old man with Fabry disease, showing proximal limb muscle atrophy, and his 52-year-old mother, who is a Fabry carrier with hypertrophic cardiomyopathy. Despite the relatively mild myopathic changes revealed by histochemistry, electron microscopy demonstrated the widespread accumulation of abundant lamellated bodies in myofibers, associated with increased glycogen granules and autophagic vacuoles. The cardiac muscle of the proband's mother revealed a mosaic pattern of normal-appearing and hypertrophic myofibers containing a number of ring-like, lamellated bodies. Although further studies are necessary to support our findings, skeletal muscle is apparently involved in patients with Fabry disease, and a mosaic pattern of cardiac muscle involvement possibly reflecting Lyonization, may be one of the characteristic findings of a Fabry disease carrier.
journal_name
Acta Neuropatholjournal_title
Acta neuropathologicaauthors
Uchino M,Uyama E,Kawano H,Hokamaki J,Kugiyama K,Murakami Y,Yasue H,Ando Mdoi
10.1007/BF00296520subject
Has Abstractpub_date
1995-01-01 00:00:00pages
334-8issue
3eissn
0001-6322issn
1432-0533journal_volume
90pub_type
杂志文章abstract::Spinal cord of the rat was investigated immunohistochemically to detect signs of extravasation of fibronectin in animals in which the cord was subjected to different degrees of compression trauma. Immunohistochemistry was performed after survival periods of 4 and 24 h and parallel sections were incubated for albumin i...
journal_title:Acta neuropathologica
pub_type: 杂志文章
doi:10.1007/BF00227738
更新日期:1992-01-01 00:00:00
abstract::Neuropeptides have turned out to be promising new parameters, in addition to the routinely performed histochemical diagnosis, of Hirschsprung's disease (HD). Studies of the peptidergic innervation of the affected intestinal segment of patients with HD have demonstrated a marked reduction in the density of several neur...
journal_title:Acta neuropathologica
pub_type: 杂志文章
doi:10.1007/s00401-002-0613-x
更新日期:2003-01-01 00:00:00
abstract::Mutations in the gene coding for Sequestosome 1 (SQSTM1) have been genetically associated with amyotrophic lateral sclerosis (ALS) and Paget disease of bone. In the present study, we analyzed the SQSTM1 coding sequence for mutations in an extended cohort of 1,808 patients with frontotemporal lobar degeneration (FTLD),...
journal_title:Acta neuropathologica
pub_type: 杂志文章
doi:10.1007/s00401-014-1298-7
更新日期:2014-09-01 00:00:00
abstract::Methylmercury (MeHg) poisoning (20 mg/kg body weight) in embryonic mice resulted in significant reductions of mitotic indices in the neuroepithelial germinal cells of the telencephalon at the ventricular surface 4 to 12 h following intoxication. After 24 h, no significant difference in the mitotic indices was observed...
journal_title:Acta neuropathologica
pub_type: 杂志文章
doi:10.1007/BF00293454
更新日期:1991-01-01 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::Lysolecithin has been used in many studies to induce demyelination in peripheral nerves. In the present investigation lysolecithin (lysophosphatidyl choline) was injected into rat sciatic nerves at a dose of 2-3 microns of a 10 mg/ml solution in order to study the effects of this lipid on cellular elements other than ...
journal_title:Acta neuropathologica
pub_type: 杂志文章
doi:10.1007/BF00690634
更新日期:1982-01-01 00:00:00
abstract::The isolated paired helical filaments (PHF) that occur in the neurofibrillary tangles of Alzheimer's disease were assayed to determine if they contained N-acetyl-glucosamine and N-acetyl-galactosamine residues. The enzyme-linked lectin assay was used to detect their total content in the PHF preparation. The assay empl...
journal_title:Acta neuropathologica
pub_type: 杂志文章
doi:10.1007/BF00294242
更新日期:1990-01-01 00:00:00
abstract::The relationship between diabetes and the size, density and area of the ventromedial hypothalamic nucleus (VMH) was studied in the genetically diabetic Chinese hamster. Matched diabetic and non-diabetic control chinese hamsters were perfused, the hypothalamus collected, sectioned and stained for light microscopy. The ...
journal_title:Acta neuropathologica
pub_type: 杂志文章
doi:10.1007/BF00691183
更新日期:1982-01-01 00:00:00
abstract::A macrosomic male infant with multiple malformations survived for 4 days. His external dysplasias comprised macrocephalus, cheilopalatoschisis, auricular anomalies, and unilateral hexadactyl; his internal dysplasias included cysts of kidneys and pancreas, and a patent foramen ovale. The child had frequent generalized ...
journal_title:Acta neuropathologica
pub_type: 杂志文章
doi:10.1007/BF00690449
更新日期:1980-01-01 00:00:00
abstract::In addition to motor neurone degeneration, up to 50% of amyotrophic lateral sclerosis (ALS) patients present with cognitive decline. Understanding the neurobiological changes underlying these cognitive deficits is critical, as cognitively impaired patients exhibit a shorter survival time from symptom onset. Given the ...
journal_title:Acta neuropathologica
pub_type: 杂志文章
doi:10.1007/s00401-017-1797-4
更新日期:2018-02-01 00:00:00
abstract::Experimental brain tumors were produced in rats by stereotactical implantation of various neoplastic cell lines (RG 2, RG1 2.2, G 13/11, F 98, RN 6, B 104, and E 367). Using autoradiographic, bioluminescence, and fluoroscopic methods, the following regional hemodynamic and metabolic parameters were measured on intact ...
journal_title:Acta neuropathologica
pub_type: 杂志文章
doi:10.1007/BF00687050
更新日期:1986-01-01 00:00:00
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
pub_type: 杂志文章
doi:10.1007/BF00690460
更新日期:1980-01-01 00:00:00
abstract::We investigated clinicopathologically pyramidal signs, including hyperreflexia, Babinski sign, and spasticity, and the involvement of the primary motor cortex and pyramidal tract, in eight Japanese autopsy cases of amyotrophic lateral sclerosis (ALS) with dementia. Pyramidal signs were observed in seven (88%) of the e...
journal_title:Acta neuropathologica
pub_type: 杂志文章
doi:10.1007/s00401-002-0543-7
更新日期:2002-09-01 00:00:00
abstract::The morphology of toxoplasma and its interaction with the cellular elements of the brain were studied in a patient who dies of extensive cerebral toxoplasmosis superimposed on Hodgkin's disease. The cerebral lesions were devoid of inflammatory cellular response and contained numerous organisms mostly in isolated multi...
journal_title:Acta neuropathologica
pub_type: 杂志文章
doi:10.1007/BF00690360
更新日期:1978-06-30 00:00:00
abstract::Macroautophagy is a dynamic process whereby cytoplasmic components are initially sequestered within autophagosomes. Recent studies have shown that the autophagosome membrane can selectively recognize ubiquitinated proteins and organelles through interaction with adapter proteins such as p62 and NBR1. Both proteins are...
journal_title:Acta neuropathologica
pub_type: 杂志文章
doi:10.1007/s00401-012-0975-7
更新日期:2012-08-01 00:00:00
abstract::In a previous study the occurrence of nerve fibre degeneration with a distribution as in dying-back neuropathies was described in young rats subjected to severe protein deprivation (Oldfors 1981). In this study the ultrastructural appearance of the degeneration of the nerve fibres at different levels of the longitudin...
journal_title:Acta neuropathologica
pub_type: 杂志文章
doi:10.1007/BF00688871
更新日期:1982-01-01 00:00:00
abstract::Hyper- and hypothyroidism repercussions on soma, nucleus and cytoplasm increases were studied by electron microscopy on 7-, 14-, 21-, and 35-day-old rats. Adult normal animals were compared with adult ones made hypothyroid until they were 35 days old. Also heat value restriction of food intake effects were compared wi...
journal_title:Acta neuropathologica
pub_type: 杂志文章
doi:
更新日期:1978-09-15 00:00:00
abstract::Pyroglutamylated amyloid-β (pE(3)-Aβ) has been suggested to play a major role in Alzheimer's disease (AD) pathogenesis as amyloid-β (Aβ) oligomers containing pE(3)-Aβ might initiate tau-dependent cytotoxicity. We aimed to further elucidate the associations among pE(3)-Aβ, full-length Aβ and hyperphosphorylated tau (HP...
journal_title:Acta neuropathologica
pub_type: 杂志文章
doi:10.1007/s00401-014-1296-9
更新日期:2014-07-01 00:00:00
abstract::Newborn rats were exposed to daily intraperitoneal injections of 10 mg lead nitrate per kg body weight for the first 15 postnatal days. The growth and mortality of the lead-exposed animals did not differ from their control litter-mates, injected with vehicle only. In our previous studies, focal hemorrhages and spongy ...
journal_title:Acta neuropathologica
pub_type: 杂志文章
doi:10.1007/BF00687071
更新日期:1987-01-01 00:00:00
abstract::Medulloblastoma comprises four distinct molecular variants with distinct genetics, transcriptomes, and outcomes. Subgroup affiliation has been previously shown to remain stable at the time of recurrence, which likely reflects their distinct cells of origin. However, a therapeutically relevant question that remains una...
journal_title:Acta neuropathologica
pub_type: 杂志文章
doi:10.1007/s00401-015-1389-0
更新日期:2015-03-01 00:00:00
abstract::Clinical and morphological findings in an 8-year-old Jewish girl with spongy leukodystrophy are presented. Ultrastructural changes indicated that this may be a form of Canavan's disease with some atypical features. Biochemical measurements indicated that synaptosomal membranes prepared from the striatum but not from t...
journal_title:Acta neuropathologica
pub_type: 杂志文章
doi:10.1007/BF00691321
更新日期:1981-01-01 00:00:00
abstract::Glucosylceramide lipidosis results from a defective lysosomal degradation of this glycolipid. Lipid degradation is controlled by two components, the enzyme beta-glucocerebrosidase and a sphingolipid activator protein. While most Gaucher cases are due to mutations within the gene that codes for the lysosomal enzyme, on...
journal_title:Acta neuropathologica
pub_type: 杂志文章
doi:10.1007/s004010050960
更新日期:1999-01-01 00:00:00
abstract::Nine dogs with canine distemper encephalitis (CDE) were examined with immunological techniques including demonstration of antibodies against canine distemper virus (CDV) in the serum and against myelin basic protein (MBP) in serum and in CSF. Mitogen stimulation tests of lymphocytes were also done. The brains were exa...
journal_title:Acta neuropathologica
pub_type: 杂志文章
doi:10.1007/BF00691174
更新日期:1982-01-01 00:00:00
abstract::Huntington's disease (HD) is an autosomal dominant neurodegenerative disease caused by an expanded trinucleotide CAG repeat in the gene coding for huntingtin. Deregulation of chromatin remodeling is linked to the pathogenesis of HD but the mechanism remains elusive. To identify what genes are deregulated by trimethyla...
journal_title:Acta neuropathologica
pub_type: 杂志文章
doi:10.1007/s00401-013-1103-z
更新日期:2013-05-01 00:00:00
abstract::In this report, we describe the clinical, topographical and immunohistochemical characteristics of neurofilament (NF) inclusion formation induced by the intracisternal inoculation of young adult New Zealand white rabbits at 28-day intervals with 100 micrograms AlCl3 over the course of 267 days. The ability to recover ...
journal_title:Acta neuropathologica
pub_type: 杂志文章
doi:10.1007/BF00294460
更新日期:1995-01-01 00:00:00
abstract::Medulloblastoma (MB) represents approximately 4% of adult brain tumours, and as such is a poorly studied disease. Although many adult MB are treated using paediatric MB protocols, the reported outcomes are inferior to those observed in children. It remains unclear whether biologic differences underlie these clinical o...
journal_title:Acta neuropathologica
pub_type: 杂志文章
doi:10.1007/s00401-010-0780-0
更新日期:2011-02-01 00:00:00
abstract::In spite of several cases reported in the literature, the exact pathogenetic mechanism of neuropathic changes in porphyric neuropathy remains uncertain. Various authors have ascribed the neuropathologic findings to either a dying-back axonal degeneration or segmental demyelination. In recent years, the hypothesis of a...
journal_title:Acta neuropathologica
pub_type: 杂志文章
doi:10.1007/BF00697191
更新日期:1984-01-01 00:00:00
abstract::Matrix metalloproteinases (MMPs) are endoproteases that have been implicated in the pathogenesis of inflammatory and vasculitic neuropathies. In systemic lupus erythematosus (SLE), a peripheral neuropathy is frequently seen that is thought to be caused by ischemic nerve damage due to vasculopathy and/or vasculitis of ...
journal_title:Acta neuropathologica
pub_type: 杂志文章
doi:10.1007/s00401-002-0653-2
更新日期:2003-04-01 00:00:00
abstract::The differential diagnosis of Creutzfeldt-Jakob disease (CJD) from other, sometimes treatable, neurological disorders is challenging, owing to the wide phenotypic heterogeneity of the disease. Real-time quaking-induced prion conversion (RT-QuIC) is a novel ultrasensitive in vitro assay, which, at variance with surroga...
journal_title:Acta neuropathologica
pub_type: 杂志文章
doi:10.1007/s00401-017-1683-0
更新日期:2017-04-01 00:00:00
abstract::An unusual case of cerebellar neurocytoma with rhabdomyomatous differentiation in a 6-year-old boy is reported. Immunocytochemical and ultrastructural features of the tumour were studied. Abortive synapse formation, the presence of clear vesicles and synaptophysin immunoreactivity of the tumour cells indicated its int...
journal_title:Acta neuropathologica
pub_type: 杂志文章
doi:10.1007/s004010050805
更新日期:1998-03-01 00:00:00