GM1-gangliosidosis in a cross-bred dog confirmed by detection of GM1-ganglioside using electrospray ionisation-tandem mass spectrometry.


: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.


Acta Neuropathol


Acta neuropathologica


Whitfield P,Johnson AW,Dunn KA,Delauche AJ,Winchester BG,Franklin RJ




Has Abstract


2000-10-01 00:00:00












  • Extending the clinicopathological spectrum of neurofilament inclusion disease.

    abstract::We describe features of a patient that broadens the clinical and pathological spectrum of neurofilament inclusion disease (NFID). The patient was a 52-year-old man with a 5--6 year history of progressive, asymmetrical spastic weakness of the upper and lower extremities; L-DOPA-unresponsive parkinsonism; and SPECT evid...

    journal_title:Acta neuropathologica

    pub_type: 杂志文章


    authors: Josephs KA,Uchikado H,McComb RD,Bashir R,Wszolek Z,Swanson J,Matsumoto J,Shaw G,Dickson DW

    更新日期:2005-04-01 00:00:00

  • Senile plaque neurites fail to demonstrate anti-paired helical filament and anti-microtubule-associated protein-tau immunoreactive proteins in the absence of neurofibrillary tangles in the neocortex.

    abstract::Although much work has been directed recently towards unravelling the protein chemistry of neurofibrillary tangle (NFT) and senile plaque (SP) components in Alzheimer's disease, the pathogeneses of these lesions remains largely unknown and the problem of their relationship is unresolved. In particular, although paired...

    journal_title:Acta neuropathologica

    pub_type: 杂志文章


    authors: Probst A,Anderton BH,Brion JP,Ulrich J

    更新日期:1989-01-01 00:00:00

  • Differential expression of intercellular adhesion molecule-1 (ICAM-1) in the A beta-containing lesions in brains of patients with dementia of the Alzheimer type.

    abstract::Inflammatory processes have been implicated in the formation of senile plaques in the cerebral cortex of patients with dementia of the Alzheimer type (DAT), since several inflammation-induced proteins are present within these plaques. The relation between inflammatory components and other amyloid beta protein (A beta)...

    journal_title:Acta neuropathologica

    pub_type: 杂志文章


    authors: Verbeek MM,Otte-Höller I,Wesseling P,Ruiter DJ,de Waal RM

    更新日期:1996-01-01 00:00:00

  • [Amyotrophic lateral sclerosis with degeneration of thalamus and substantia nigra (author's transl)].

    abstract::A 40-year-old man suffering from amyotrophic lateral sclerosis with symmetrical degeneration of the thalamus and the substantia nigra is reported. The distribution pattern of the thalamic degeneration in the present case was characteristic in that the Nucleus centralis was the severest affected of the thalamic nuclei...

    journal_title:Acta neuropathologica

    pub_type: 杂志文章


    authors: Kosaka K,Mehraein P

    更新日期:1978-12-15 00:00:00

  • Cerebral atrophy in AIDS: a stereological study.

    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


    authors: Oster S,Christoffersen P,Gundersen HJ,Nielsen JO,Pakkenberg B,Pedersen C

    更新日期:1993-01-01 00:00:00

  • Tuberous sclerosis and dysplasia of the corpus callosum. Case report of their combined occurrence in a newborn.

    abstract::A neuropathological study is presented of a case showing the association of tuberous sclerosis of the brain and dysplasia of the corpus callosum as well as omphalocele and malrotated colon. No signs of tuberous sclerosis were found in the internal organs. From a review of the literature this appears to be the fourth c...

    journal_title:Acta neuropathologica

    pub_type: 杂志文章


    authors: Barth PG,Stam FC,von der Harten JJ

    更新日期:1978-04-26 00:00:00

  • Immunohistochemical observations on rat radial glia: relationship with the origin of ethylnitrosourea-induced tumors.

    abstract::Gliomas induced in the rat by transplacental administration of ethylnitrosourea (ENU) are intensely immunoreactive for vimentin and scarcely for glial fibrillary acidic protein (GFAP). Since tumoral transformation takes place during the late fetal and early postnatal period, the sequential expression of the two glial ...

    journal_title:Acta neuropathologica

    pub_type: 杂志文章


    authors: Giordana MT,Migheli A,Mocellini C,Villare F,Schiffer D

    更新日期:1992-01-01 00:00:00

  • Oxidatively modified proteins in Alzheimer's disease (AD), mild cognitive impairment and animal models of AD: role of Abeta in pathogenesis.

    abstract::Oxidative stress has been implicated in the pathogenesis of a number of diseases including Alzheimer's disease (AD). The oxidative stress hypothesis of AD pathogenesis, in part, is based on beta-amyloid peptide (Abeta)-induced oxidative stress in both in vitro and in vivo studies. Oxidative modification of the protein...

    journal_title:Acta neuropathologica

    pub_type: 杂志文章,评审


    authors: Sultana R,Perluigi M,Butterfield DA

    更新日期:2009-07-01 00:00:00

  • Antibody-induced generation of reactive oxygen radicals by brain macrophages in canine distemper encephalitis: a mechanism for bystander demyelination.

    abstract::The mechanism of inflammatory demyelination in canine distemper encephalitis (CDE) is uncertain but macrophages are thought to play an important effector role in this lesion. Serum and cerebrospinal fluid (CSF), containing anti-canine distemper virus and anti-myelin antibodies from dogs with CDE were tested for their ...

    journal_title:Acta neuropathologica

    pub_type: 杂志文章


    authors: Griot C,Bürge T,Vandevelde M,Peterhans E

    更新日期:1989-01-01 00:00:00

  • Oligodendrocyte survival in Wallerian degeneration.

    abstract::The long-term survival of oligodendrocytes in the absence of axons in adult animals was studied following Wallerian degeneration of the optic nerves of adult rats for periods up to 22 months. In contrast to the findings in development and in young animals, large numbers of oligodendrocytes survived during this time pe...

    journal_title:Acta neuropathologica

    pub_type: 杂志文章


    authors: Ludwin SK

    更新日期:1990-01-01 00:00:00

  • Genetic alterations in uncommon low-grade neuroepithelial tumors: BRAF, FGFR1, and MYB mutations occur at high frequency and align with morphology.

    abstract::Low-grade neuroepithelial tumors (LGNTs) are diverse CNS tumors presenting in children and young adults, often with a history of epilepsy. While the genetic profiles of common LGNTs, such as the pilocytic astrocytoma and 'adult-type' diffuse gliomas, are largely established, those of uncommon LGNTs remain to be define...

    journal_title:Acta neuropathologica

    pub_type: 杂志文章


    authors: Qaddoumi I,Orisme W,Wen J,Santiago T,Gupta K,Dalton JD,Tang B,Haupfear K,Punchihewa C,Easton J,Mulder H,Boggs K,Shao Y,Rusch M,Becksfort J,Gupta P,Wang S,Lee RP,Brat D,Peter Collins V,Dahiya S,George D,Konomos

    更新日期:2016-06-01 00:00:00

  • Telomerase inhibition abolishes the tumorigenicity of pediatric ependymoma tumor-initiating cells.

    abstract::Pediatric ependymomas are highly recurrent tumors resistant to conventional chemotherapy. Telomerase, a ribonucleoprotein critical in permitting limitless replication, has been found to be critically important for the maintenance of tumor-initiating cells (TICs). These TICs are chemoresistant, repopulate the tumor fro...

    journal_title:Acta neuropathologica

    pub_type: 杂志文章


    authors: Barszczyk M,Buczkowicz P,Castelo-Branco P,Mack SC,Ramaswamy V,Mangerel J,Agnihotri S,Remke M,Golbourn B,Pajovic S,Elizabeth C,Yu M,Luu B,Morrison A,Adamski J,Nethery-Brokx K,Li XN,Van Meter T,Dirks PB,Rutka JT,Tay

    更新日期:2014-12-01 00:00:00

  • Adrenomyeloneuropathy. A protracted, pseudosystematic variant of adrenoleukodystrophy.

    abstract::Histopathological, immunocytochemical, and electron microscopical investigations were carried out in a man with a protracted history of spastic paraparesis, adrenal insufficiency and hypogonadism. Pathological findings were identical with those of the few previously reported cases of adrenomyeloneuropathy (AMN) includ...

    journal_title:Acta neuropathologica

    pub_type: 杂志文章


    authors: Probst A,Ulrich J,Heitz PU,Herschkowitz N

    更新日期:1980-01-01 00:00:00

  • Increase in SNAP-25 immunoreactivity in the mossy fibers following transient forebrain ischemia in the gerbil.

    abstract::SNAP-25 (a synaptosomal-associated protein of 25 kDa) has been shown to be involved both in synaptic vesicle exocytosis and in axonal outgrowth. In the present study, we investigated the changes in SNAP-25 immunoreactivity in the hippocampus of the Mongolian gerbil (Meriones unguiculatus) at different time points afte...

    journal_title:Acta neuropathologica

    pub_type: 杂志文章


    authors: Martí E,Ferrer I,Ballabriga J,Blasi J

    更新日期:1998-03-01 00:00:00

  • Glioblastoma-related gene mutations and over-expression of functional epidermal growth factor receptors in SKMG-3 glioma cells.

    abstract::Amplification of the epidermal growth factor receptor (EGFR) gene is found in about 40% of glioblastomas (GBMs) but is rarely detected in GBM cell lines. We confirmed that the exceptional SKMG-3 GBM cell line retained amplified EGFR genes in vitro, and found that these sequences were concentrated on extra-chromosomal ...

    journal_title:Acta neuropathologica

    pub_type: 杂志文章


    authors: Thomas C,Ely G,James CD,Jenkins R,Kastan M,Jedlicka A,Burger P,Wharen R

    更新日期:2001-06-01 00:00:00

  • Clofibrate-induced myopathy in the rat.

    abstract::Rats were given daily injections of 0.2 or 0.5 g/kg chlorophenoxyisobutyrate (clofibrate) for 9 to 46 days. Lower leg muscles were studied with light and electron microscopy. Daily treatment with 0.5 g/kg of the drug for 26--46 days caused myopathic changes. ...

    journal_title:Acta neuropathologica

    pub_type: 杂志文章


    authors: Teräväinen H,Larsen A,Hillbom M

    更新日期:1977-08-16 00:00:00

  • Redox system expression in the motor neurons in amyotrophic lateral sclerosis (ALS): immunohistochemical studies on sporadic ALS, superoxide dismutase 1 (SOD1)-mutated familial ALS, and SOD1-mutated ALS animal models.

    abstract::Peroxiredoxin-ll (Prxll) and glutathione peroxidase-l (GPxl) are regulators of the redox system that is one of the most crucial supporting systems in neurons. This system is an antioxidant enzyme defense system and is synchronously linked to other important cell supporting systems. To clarify the common self-survival ...

    journal_title:Acta neuropathologica

    pub_type: 杂志文章


    authors: Kato S,Kato M,Abe Y,Matsumura T,Nishino T,Aoki M,Itoyama Y,Asayama K,Awaya A,Hirano A,Ohama E

    更新日期:2005-08-01 00:00:00

  • The membrane attack complex of complement mediates peripheral nervous system demyelination in vitro.

    abstract::The present study used cocultures of rat dorsal root ganglia (DRG) and peritoneal macrophages to define the role of activated complement components during demyelination. The complement cascade was activated in vitro by treatment of the cultures with natural rat serum and lipopolysaccharides. Complement activation was ...

    journal_title:Acta neuropathologica

    pub_type: 杂志文章


    authors: Brück W,Brück Y,Diederich U,Piddlesden SJ

    更新日期:1995-01-01 00:00:00

  • Relationship of adjuvants and swine influenza vaccine to experimental neuropathy in rabbits.

    abstract::Experimental neuropathy, characterized by endoneurial edema and demyelination, was induced by inoculating rabbits with a combination of Freund's complete adjuvant (FCA), gangliosides, lecithin and cholesterol. A less severe demyelinating neuropathy could be induced by treatment with FCA alone but no significant change...

    journal_title:Acta neuropathologica

    pub_type: 杂志文章


    authors: Powell HC,Mizisin AP,Wiley CA,Morey MK,Hughes RA

    更新日期:1987-01-01 00:00:00

  • N-Hexane- and methylethylketone-induced polyneuropathy. Abnormal accumulation of glycogen in unmyelinated axons. Report of a case.

    abstract::This report presents the ultrastructural nerve study of a patient with sensorimotor neuropathy by a shoe glue containing an association of n-hexane and methylethylketone. Giant axons, distended by microfilamentous proliferation typical of such cases of neuropathy, were found in significant amounts. An unusual histolog...

    journal_title:Acta neuropathologica

    pub_type: 杂志文章


    authors: Vallat JM,Leboutet MJ,Loubet A,Piva C,Dumas M

    更新日期:1981-01-01 00:00:00

  • Alpha-synuclein accumulation in a case of neurodegeneration with brain iron accumulation type 1 (NBIA-1, formerly Hallervorden-Spatz syndrome) with widespread cortical and brainstem-type Lewy bodies.

    abstract::We studied a 27-year-old woman who died after a 6-year history of progressive dementia, dystonia, ataxia, apraxia, spasticity, choreoathetosis, visual and auditory hallucinations, and optic atrophy. Magnetic resonance imaging showed decreased intensity in the globus pallidus, substantia nigra, and dentate nuclei in T2...

    journal_title:Acta neuropathologica

    pub_type: 杂志文章


    authors: Neumann M,Adler S,Schlüter O,Kremmer E,Benecke R,Kretzschmar HA

    更新日期:2000-11-01 00:00:00

  • The origin, fate, and contribution of macrophages to spinal cord injury pathology.

    abstract::Virtually all phases of spinal cord injury pathogenesis, including inflammation, cell proliferation and differentiation, as well as tissue remodeling, are mediated in part by infiltrating monocyte-derived macrophages. It is now clear that these infiltrating macrophages have distinct functions from resident microglia a...

    journal_title:Acta neuropathologica

    pub_type: 杂志文章,评审


    authors: Milich LM,Ryan CB,Lee JK

    更新日期:2019-05-01 00:00:00

  • An autopsy case of the "demyelinating type" of Wilson's disease.

    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


    authors: Miyakawa T,Murayama E

    更新日期:1976-01-01 00:00:00

  • Depletion of cholinergic neurons in the nucleus of the medial septum and the vertical limb of the diagonal band in dementia with Lewy bodies.

    abstract::The cholinergic basal forebrain is divided into four subregions (Ch1-4), and cholinergic neuronal loss in the nucleus basalis of Meynert (Ch4) has been correlated with cognitive impairments in both Alzheimer's disease (AD) and dementia with Lewy bodies (DLB). However, the Ch1-2 regions, which provide the major choline...

    journal_title:Acta neuropathologica

    pub_type: 杂志文章


    authors: Fujishiro H,Umegaki H,Isojima D,Akatsu H,Iguchi A,Kosaka K

    更新日期:2006-02-01 00:00:00

  • The compensatory 'rebound' of reactive astrogliosis: glial fibrillary acidic protein immunohistochemical analysis of reactive astrogliosis after a puncture wound to the brain of rats with portocaval anastomosis.

    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


    authors: Ma KC,Chang ZH,Shih H,Zhu JH,Wu JY

    更新日期:1991-01-01 00:00:00

  • A new model of congenital hydrocephalus in the rat.

    abstract::Hydrocephalic neonates were observed in a small breeding colony of rats. Normal rats from this colony were obtained and brother-sister mated for seven generations. The overall prevalence of hydrocephalics was approximately 23%; however, in one subline, the prevalence approached 50%. Breeding data suggested the trait t...

    journal_title:Acta neuropathologica

    pub_type: 杂志文章


    authors: Kohn DF,Chinookoswong N,Chou SM

    更新日期:1981-01-01 00:00:00

  • Identification of components of immunoglobulins in senile plaques by means of fluorescent antibody technique.

    abstract::Using a fluorescent antibody technique, sections of the brains of patients with senile dementia or Alzheimer's disease containing senile plaques were treated with rabbit antihuman immunoglobulins labelled with FITC (fluorescein isothiocyanate, BBL). The senile plaques and the cerebral amyloid angiopathy (drusige Entar...

    journal_title:Acta neuropathologica

    pub_type: 杂志文章


    authors: Ishii T,Haga S

    更新日期:1975-08-11 00:00:00

  • Deletions on the long arm of chromosome 17 in pilocytic astrocytoma.

    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


    authors: von Deimling A,Louis DN,Menon AG,von Ammon K,Petersen I,Ellison D,Wiestler OD,Seizinger BR

    更新日期:1993-01-01 00:00:00

  • Mutation-specific IDH1 antibody differentiates oligodendrogliomas and oligoastrocytomas from other brain tumors with oligodendroglioma-like morphology.

    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


    authors: Capper D,Reuss D,Schittenhelm J,Hartmann C,Bremer J,Sahm F,Harter PN,Jeibmann A,von Deimling A

    更新日期:2011-02-01 00:00:00

  • Thrombosis of a saccular microaneurysm causing cerebral (pontine) lacunae.

    abstract::The authors present the case of a hypertensive patient with a thrombosis of a saccular microaneurysm (SMA) and underlying cerebral (pontine) lacunae. This SMA lay at the junction between the main vessel and two small feeding arteries penetrating into the necrotic territory. Microhemorrhages were observed in and outsid...

    journal_title:Acta neuropathologica

    pub_type: 杂志文章


    authors: Benhaiem-Sigaux N,Gherardi R,Salama J,Gray F,Amouroux J,Poirier J

    更新日期:1986-01-01 00:00:00