Abstract：
:The post-mortem diagnosis of lysosomal storage diseases can be confounded by the unavailability of suitable material. Here we report the diagnosis of GM1-gangliosidosis in a cross-bred dog, from which only formalin-fixed brain was available, by a combination of electron microscopy and the detection of elevated levels of GM1-ganglioside within the tissue using the novel technique of electrospray ionisation tandem mass spectrometry. Electron microscopic examination of ultrathin sections of resin-embedded tissue revealed cytoplasmic inclusions (membranous cytoplasmic and zebra bodies) in brain stem and cerebellar neurons that were characteristic of a gangliosidosis. Glycolipids were extracted from the fixed tissue and analysed by tandem mass spectrometry. Two major ions were detected, which corresponded to GM1 (d18:1-C18:0) and Gm1 (d20:1-C18:0). Their identity was confirmed by comparison of their fragmentation patterns with those of authentic standards. The concentration of GM1 was approximately sixfold higher on a wet weight basis than in the brain of a normal control dog, confirming the diagnosis of GM1-gangliosidosis.
journal_name
Acta Neuropatholjournal_title
Acta neuropathologicaauthors
Whitfield P,Johnson AW,Dunn KA,Delauche AJ,Winchester BG,Franklin RJdoi
10.1007/s004010000187subject
Has Abstractpub_date
2000-10-01 00:00:00pages
409-14issue
4eissn
0001-6322issn
1432-0533journal_volume
100pub_type
杂志文章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：:A retrospective study of 450 consecutive AIDS autopsy cases (397 males, 53 females; mean age at death 38.4 years) in Vienna, Austria, between 1984 and 1999 compares the central nervous system (CNS) findings in three cohorts: 1984-1992 (190 cases), 1993-1995 (162 cases) and 1996-1999 (98 cases, after introduction of tr...
journal_title：Acta neuropathologica
pub_type： 杂志文章
doi：10.1007/s004010000245
更新日期：2000-08-01 00:00:00
abstract：:In the present study we assessed the neuroprotective effects of the pan-caspase inhibitor z-VAD.fmk [N-benzyloxycarbony-valine-alanine-aspartate-(OMe)-fluoromethylketone], and the caspase-3 inhibitor Ac-DEVD.CHO (acetyl-aspartate-chloromethylketone) in the double-lesion rat model of striatonigral degeneration (SND), t...
journal_title：Acta neuropathologica
pub_type： 杂志文章
doi：10.1007/s00401-004-0931-2
更新日期：2005-02-01 00:00:00
abstract：:Ectopic neurons have been detected in the hippocampus of postnatal hooded rats aged 5-24 days. These rats were exposed to methylazoxymethanol acetate (MAMac) during foetal development by injecting the mother rats with this neurotoxin. At birth, the hippocampus of rats exposed to MAMac showed a normal cytoarchitecture;...
journal_title：Acta neuropathologica
pub_type： 杂志文章
doi：10.1007/BF00688698
更新日期：1977-10-10 00:00:00
abstract：:Glioblastoma (GBM), the most common malignant brain tumor, is among the most lethal neoplasms, with a median survival of approximately 1 year. Prognosis is poor since GBMs possess a strong migratory and highly invasive potential, making complete surgical resection impossible. Reduced expression of carboxypeptidase E (...
journal_title：Acta neuropathologica
pub_type： 杂志文章
doi：10.1007/s00401-011-0940-x
更新日期：2012-07-01 00:00:00
abstract：:Aluminum was observed in the nucleolus, interchromatin granules, rough endoplasmic reticulum, free ribosomes, euchromatin, and the heterochromatin of the neuron. The association of aluminum with the first four r-RNA-containing cellular components and with the last two DNA-containing chromatins suggests the association...
journal_title：Acta neuropathologica
pub_type： 杂志文章
doi：10.1007/BF00690191
更新日期：1985-01-01 00:00:00
abstract：:Neuregulins belong to a family of multipotent growth-promoting proteins, and have been shown to have a crucial role in accumulating acetylcholine receptor at neuromuscular junctions. A functional role of neuregulins in muscle regeneration has not yet been identified. Using reverse transcription (RT)-PCR, Western blot ...
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：:Two cases of Central neurocytoma arising in the lateral ventricles are presented. Both patients had well-circumscribed masses in the right lateral ventricle causing hydrocephalus. The tumors were composed of small round cells forming Homer Wright rosettes against a fine fibrillary background. In one patient surgical r...
journal_title：Acta neuropathologica
pub_type： 杂志文章
doi：10.1007/BF00687981
更新日期：1986-01-01 00:00:00
abstract：:Marinesco-Sjögren syndrome (MSS) features cerebellar ataxia, mental retardation, cataracts, and progressive vacuolar myopathy with peculiar myonuclear alterations. Most MSS patients carry homozygous or compound heterozygous SIL1 mutations. SIL1 is a nucleotide exchange factor for the endoplasmic reticulum resident cha...
journal_title：Acta neuropathologica
pub_type： 杂志文章
doi：10.1007/s00401-013-1224-4
更新日期：2014-05-01 00:00:00
abstract：:Olfactory dysfunction is a frequent and early feature of patients with neurodegenerative disorders such as Alzheimer's disease (AD) and Parkinson's disease (PD) and is very uncommon in patients with frontotemporal dementia (FTD). Mechanisms underlying this clinical manifestation are poorly understood but the premature...
journal_title：Acta neuropathologica
pub_type： 杂志文章
doi：10.1007/s00401-011-0830-2
更新日期：2011-07-01 00:00:00
abstract：:Using a 3H-labelled virion DNA probe applied to tissue sections, we have previously identified the precise microscopic anatomical location of herpes simplex virus (HSV) during the acute and latent stages of infection of the mouse trigeminal ganglia and central nervous system (CNS). In the present investigation, we com...
journal_title：Acta neuropathologica
pub_type： 杂志文章
doi：10.1007/BF00692842
更新日期：1987-01-01 00:00:00
abstract：:In comparison to the levels in age and gender-matched controls, reduced levels of pathological amyloid-β protein in cerebrospinal fluid routinely precede the onset of Alzheimer's disease-related symptoms by several years, whereas elevated soluble abnormal tau fractions (phosphorylated tau, total tau protein) in cerebr...
journal_title：Acta neuropathologica
pub_type： 杂志文章,评审
doi：10.1007/s00401-013-1139-0
更新日期：2013-11-01 00:00:00
abstract：:Double immunofluorescence for paired helical filament (PHF)-tau (AT8) and ubiquitin, enhanced by catalyzed reporter deposition amplification, was combined with thiazin red (TR), a fluorochrome, which has an affinity to fibrillary structures such as neurofibrillary tangles (NFTs). After recording these triple-fluoresce...
journal_title：Acta neuropathologica
pub_type： 杂志文章
doi：10.1007/s004010000306
更新日期：2001-06-01 00:00:00
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 ...
journal_title：Acta neuropathologica
pub_type： 杂志文章
doi：10.1007/s004010050866
更新日期：1998-07-01 00:00:00
abstract：:The glial cytoplasmic inclusion (GCI) is a histological hallmark for multiple system atrophy (MSA): these inclusions are found in oligodendrocytes and consist of abnormal granule-coated fibrils of approximately 24- to 40-nm diameter. To clarify the significance of the presence of midkine (MK) in these GCIs, we carried...
journal_title：Acta neuropathologica
pub_type： 杂志文章
doi：10.1007/s004010000214
更新日期：2000-11-01 00:00:00
abstract：:Spinal and bulbar muscular atrophy (SBMA) is a neuromuscular disease caused by the expansion of a polyglutamine tract in the androgen receptor (AR). The mechanism by which expansion of polyglutamine in AR causes muscle atrophy is unknown. Here, we investigated pathological pathways underlying muscle atrophy in SBMA kn...
journal_title：Acta neuropathologica
pub_type： 杂志文章
doi：10.1007/s00401-016-1550-4
更新日期：2016-07-01 00:00:00
abstract：:We have previously reported a pathological investigation of peripheral neuropathy in a horse with knuckling. This report describes details of the muscle and peripheral nerve lesions in two additional cases of light horse yearlings with knuckling. The skeletal muscles showed neurogenic atrophy characterized by scattere...
journal_title：Acta neuropathologica
pub_type： 杂志文章
doi：10.1007/s004010050916
更新日期：1998-10-01 00:00:00
abstract：:Two spontaneous neurodegenerative diseases of the horse, equine motor neuron disease (EMND) and equine degenerative myeloencephalopathy (EDM), have been associated with alpha-tocopherol deficiency, and both were characterized by prominent accumulations of endothelial lipopigment in the small vessels of the spinal cord...
journal_title：Acta neuropathologica
pub_type： 杂志文章
doi：10.1007/BF00296510
更新日期：1995-01-01 00:00:00
abstract：:Glioblastomas, the most malignant human brain tumors, are characterized by marked aneuploidy, suggesting chromosomal instability which may be caused by a defective mitotic spindle checkpoint. We screened 22 glioblastomas for mutations in the mitotic spindle check-point genes hBUB1, hBUBR1 and hBUB3. DNA sequencing rev...
journal_title：Acta neuropathologica
pub_type： 杂志文章
doi：10.1007/s004010100366
更新日期：2001-04-01 00:00:00
abstract：:Pleomorphic xanthoastrocytoma (PXA), a tumor most often presenting superficially over the cerebral hemisphere of young subjects, has certain morphological similarities to fibrous histiocytoma (or fibrous xanthoma) of the meninges and brain, namely the occurrence of lipid-laden neoplastic cells and, frequently, a dense...
journal_title：Acta neuropathologica
pub_type： 杂志文章
doi：10.1007/BF00691285
更新日期：1989-01-01 00:00:00
abstract：:Little information is available regarding the morphological changes in the mitochondria in amyotrophic lateral sclerosis (ALS). In particular, mitochondrial changes in dorsal root ganglion cells have not yet been examined. We therefore conducted an electron microscopic examination of the mitochondria in dorsal root ga...
journal_title：Acta neuropathologica
pub_type： 杂志文章
doi：10.1007/s00401-007-0299-1
更新日期：2007-12-01 00:00:00
abstract：:Apoptosis of neurons and glial cells has been shown to occur in the brain of patients with the acquired immune deficiency syndrome (AIDS) and was postulated as contributing to brain atrophy and white matter damage in these patients. Since apoptotic events may be induced by the Fas-Fas ligand (FasL) system, we analyzed...
journal_title：Acta neuropathologica
pub_type： 杂志文章
doi：10.1007/s004010051094
更新日期：1999-10-01 00:00:00
abstract：:Neurons of Area 11 in the fronto-orbital cortex of 18 unselected AIDS brains are analyzed by means of stereology. Neurological abnormalities including dementing symptoms were described in eight patients. Neuropathology diagnosed human immunodeficiency virus (HIV)-specific changes in four, and diffuse poliodystrophy in...
journal_title：Acta neuropathologica
pub_type： 杂志文章
doi：10.1007/BF00294228
更新日期：1990-01-01 00:00:00
abstract：:Alzheimer's disease (AD) is a major cause of dementia. Characteristic neuropathological features of AD include neurofibrillary tangles, senile plaques, amyloid angiopathy and microvascular atrophy. The ultra-structure of the microvascular atrophy in AD and its pathogenetic significance have not been defined. This repo...
journal_title：Acta neuropathologica
pub_type： 杂志文章
doi：10.1007/s004010050386
更新日期：1996-01-01 00:00:00
abstract：:We have developed a functional vegetative model by an 18-min clamping of the ascending aorta combined with a bypass formation between the aorta to right atrium and the aorta to femoral vein. Complete global brain ischemia (CGBI) induced for 18 min with this model provided the following distinct advantages: cardiopulmo...
journal_title：Acta neuropathologica
pub_type： 杂志文章
doi：10.1007/BF00294614
更新日期：1990-01-01 00:00:00
abstract：:A case history illustrating the potential clinical significance of subependymoma is presented. Fine structural studies indicate that the tumor is composed of cells having the cytoplasmic features of ependyma, astrocytes, and transitional cells. Its composition and structure are alike those in the adult mammalian subep...
journal_title：Acta neuropathologica
pub_type： 杂志文章
doi：10.1007/BF00691968
更新日期：1977-11-28 00:00:00
abstract：:Spinal and bulbar muscular atrophy (SBMA) is an inherited neuromuscular disease caused by expansion of a polyglutamine (polyQ) tract in the androgen receptor (AR). SBMA is triggered by the interaction between polyQ-AR and its natural ligands, testosterone and dihydrotestosterone (DHT). SBMA is characterized by the los...
journal_title：Acta neuropathologica
pub_type： 杂志文章
doi：10.1007/s00401-013-1122-9
更新日期：2013-07-01 00:00:00
abstract：:The caudate nucleus and putamen belong to the selectively vulnerable brain regions which incur neuronal damage in clinical and experimental settings of both hypoglycemia and ischemia. We have previously documented the density and distribution of the hypoglycemic damage in rat caudoputamen, but the evolution of the inj...
journal_title：Acta neuropathologica
pub_type： 杂志文章
doi：10.1007/BF00688122
更新日期：1985-01-01 00:00:00
abstract：:Emerging evidence has demonstrated the neuroprotection of estrogen in Alzheimer's disease (AD). The hippocampus, an important target of estrogen action, is severely affected in the Alzheimer process. The aim of present study was to detect the distribution of estrogen receptor-alpha (ER-alpha) and the relationship betw...
journal_title：Acta neuropathologica
pub_type： 杂志文章
doi：10.1007/s00401-003-0720-3
更新日期：2003-09-01 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
