Neuropathology of mice with targeted disruption of Hexa gene, a model of Tay-Sachs disease.

Abstract:

:A murine model of Tay-Sachs disease, the prototype of the GM2 gangliosidoses, was produced through the targeted disruption of the Hexa gene encoding the subunit of alpha-hexosaminidase A. The mice were completely devoid of beta-hexosaminidase A activity and accumulated GM2 ganglioside in the CNS in an age-dependent manner. Neurons with membranous cytoplasmic bodies (MCBs), identical to those described in Tay-Sachs disease, were identified in the brain of these mice. The neurons with MCBs were periodic acid-Schiff-positive on frozen sections and immunostained with anti-GM2 ganglioside antibody. However, unlike Tay-Sachs disease in which neurons throughout the brain are affected, the localization of storage neurons in these mice appeared to be limited to certain regions, i.e., cerebral cortex, the hippocampus, amygdala, hypothalamus, mammillary nucleus, etc. Storage neurons were absent in the olfactory bulb, cerebellar cortex and spinal anterior horns. The difference in the distribution of storage neurons suggests a difference of ganglioside metabolism between humans and mice. This model is useful for the study of the pathogenic mechanisms of neuronal storage in Tay-Sachs disease and for the evaluation of therapeutic strategies.

journal_name

Acta Neuropathol

journal_title

Acta neuropathologica

authors

Taniike M,Yamanaka S,Proia RL,Langaman C,Bone-Turrentine T,Suzuki K

doi

10.1007/BF00309622

subject

Has Abstract

pub_date

1995-01-01 00:00:00

pages

296-304

issue

4

eissn

0001-6322

issn

1432-0533

journal_volume

89

pub_type

杂志文章
  • Progression in nemaline myopathy.

    abstract::Four of seven patients with nemaline myopathy had severe, rapidly progressing symptoms. These four showed an increase in acid phosphatase activity in muscle fibers demonstrated by histochemistry and cathepsin B&L activity by biochemical measurement. On electron microscopy, nemaline bodies, occasionally disorganized my...

    journal_title:Acta neuropathologica

    pub_type: 杂志文章

    doi:10.1007/BF00687709

    authors: Nonaka I,Ishiura S,Arahata K,Ishibashi-Ueda H,Maruyama T,Ii K

    更新日期:1989-01-01 00:00:00

  • Pathological studies of aberrant peripheral nerve bundles of spinal cords.

    abstract::Aberrant peripheral nerve fiber bundles, i.e., masses of peripheral nerve fibers without perineural sheath cells, are found in the perivascular spaces of some spinal cords. The 514 spinal cords examined for these structures were separated into two groups; 507 spinal cords without definite necrotic lesions (group 1) an...

    journal_title:Acta neuropathologica

    pub_type: 杂志文章

    doi:10.1007/BF00308951

    authors: Kamiya M,Hashizume Y

    更新日期:1989-01-01 00:00:00

  • Whole-genome sequencing reveals important role for TBK1 and OPTN mutations in frontotemporal lobar degeneration without motor neuron disease.

    abstract::Frontotemporal lobar degeneration with TAR DNA-binding protein 43 inclusions (FTLD-TDP) is the most common pathology associated with frontotemporal dementia (FTD). Repeat expansions in chromosome 9 open reading frame 72 (C9ORF72) and mutations in progranulin (GRN) are the major known genetic causes of FTLD-TDP; howeve...

    journal_title:Acta neuropathologica

    pub_type: 杂志文章

    doi:10.1007/s00401-015-1436-x

    authors: Pottier C,Bieniek KF,Finch N,van de Vorst M,Baker M,Perkersen R,Brown P,Ravenscroft T,van Blitterswijk M,Nicholson AM,DeTure M,Knopman DS,Josephs KA,Parisi JE,Petersen RC,Boylan KB,Boeve BF,Graff-Radford NR,Veltman JA

    更新日期:2015-07-01 00:00:00

  • Collagen and protein content of autopsied peripheral nerve.

    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

    authors: McFarlane KR,Pollock M,Myers DB

    更新日期:1980-01-01 00:00:00

  • Creutzfeldt-Jakob disease in a patient with an R208H mutation of the prion protein gene (PRNP) and a 17-kDa prion protein fragment.

    abstract::A case of Creutzfeldt-Jakob disease (CJD) with a rare mutation of the prion protein (PrP) gene (PRNP) at codon 208 (R208H) is described. By comparison with two preceding reports, the case described here displayed two distinct biochemical and neuropathological features. Western blot analysis of brain homogenates showed...

    journal_title:Acta neuropathologica

    pub_type: 杂志文章

    doi:10.1007/s00401-004-0978-0

    authors: Roeber S,Krebs B,Neumann M,Windl O,Zerr I,Grasbon-Frodl EM,Kretzschmar HA

    更新日期:2005-04-01 00:00:00

  • Ultrastructural aspects of muscle and nerve in Werdnig-Hoffmann disease.

    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

    authors: Szliwowski HB,Drochmans P

    更新日期:1975-01-01 00:00:00

  • Niemann-Pick disease (Crocker's type C): A histological study of the distribution and qualitative differences fo the storage process.

    abstract::A histochemical study is reported of regional differences of the lipid storage in a case of Niemann-Pick disease (NPD) type C. Besides tissues known to be affected (reticulo-endothelium, hepatocytes, nervous system), storage was demonstrated in adrenal cortical spongiocytes, sweat glands, renal glomerular and tubular ...

    journal_title:Acta neuropathologica

    pub_type: 杂志文章

    doi:10.1007/BF00688393

    authors: Elleder M,Jirásek A,Smíd F

    更新日期:1975-12-19 00:00:00

  • Immunohistological investigation of mononuclear cell infiltrates in meningiomas.

    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

    authors: Becker I,Roggendorf W

    更新日期:1989-01-01 00:00:00

  • Silver diagnosis in neuropathology: principles, practice and revised interpretation.

    abstract::Silver-staining methods are helpful for histological identification of pathological deposits. In spite of some ambiguities regarding their mechanism and interpretation, they are widely used for histopathological diagnosis. In this review, four major silver-staining methods, modified Bielschowsky, Bodian, Gallyas (GAL)...

    journal_title:Acta neuropathologica

    pub_type: 历史文章,杂志文章,评审

    doi:10.1007/s00401-007-0200-2

    authors: Uchihara T

    更新日期:2007-05-01 00:00:00

  • Axonal polyglucosan body in the ventral posterolateral nucleus of the human thalamus in relation to ageing.

    abstract::Axonal polyglucosan bodies in myelinated axons in the ventral posterolateral nucleus of the human thalamus (VPL) are described. These axonal inclusions were distributed exclusively in the dorsolateral part of the caudal VPL, and their arrangement may be associated with fibres originating from the gracile nucleus. They...

    journal_title:Acta neuropathologica

    pub_type: 杂志文章

    doi:10.1007/BF00688332

    authors: Mizutani T,Satoh J,Morimatsu Y

    更新日期:1987-01-01 00:00:00

  • Decreased estrogen receptor-alpha expression in hippocampal neurons in relation to hyperphosphorylated tau in Alzheimer patients.

    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

    authors: Hu XY,Qin S,Lu YP,Ravid R,Swaab DF,Zhou JN

    更新日期:2003-09-01 00:00:00

  • Fragmentation of Golgi apparatus of nigral neurons with alpha-synuclein-positive inclusions in patients with Parkinson's disease.

    abstract::We examined whether the Golgi apparatus (GA) is fragmented in nigral neurons in 18 cases with Parkinson's disease (PD) and in 8 control cases. The nigral neurons in cases with PD showed various degrees of Lewy pathology with alpha-synuclein immunohistochemistry, and we divided the neurons into three subtypes according...

    journal_title:Acta neuropathologica

    pub_type: 杂志文章

    doi:10.1007/s00401-006-0114-4

    authors: Fujita Y,Ohama E,Takatama M,Al-Sarraj S,Okamoto K

    更新日期:2006-09-01 00:00:00

  • Immunohistochemical characterization of primitive neuroectodermal tumors and their possible relationship to the stepwise ontogenetic development of the central nervous system. 1. Ontogenetic studies.

    abstract::Aim of the present study was to establish different immunohistochemical staining patterns for a subsequent comparison with those of primitive neuroectodermal (PNET) subsets, i.e. PNET-NOS (not otherwise specified) or PNET with focal neuronal, astrocytic or ependymal differentiation, to relate neoplastic to embryonal d...

    journal_title:Acta neuropathologica

    pub_type: 杂志文章

    doi:10.1007/BF00293385

    authors: Kleinert R

    更新日期:1991-01-01 00:00:00

  • Eosinophilic inclusions in ependymoma represent microlumina: a light and electron microscopic study.

    abstract::A study was undertaken to determine the pathological significance of previously unrecognized intracytoplasmic eosinophilic inclusions (IEIs) in ependymoma. The study group consisted of 58 ependymomas, all of which were pathologically characterized and graded according to the 1993 WHO classification. Electron microscop...

    journal_title:Acta neuropathologica

    pub_type: 杂志文章

    doi:10.1007/pl00007427

    authors: Kawano N,Ohba Y,Nagashima K

    更新日期:2000-02-01 00:00:00

  • Megacolon in third-phase malrotation with delayed migration and degeneration of intramural ganglionic cells and nerves.

    abstract::A woman of 36 was admitted to hospital because of griping abdominal pain which occurred especially during the night when turning in bed. She had a history of constipation and bloating since birth. Irrigoscopy revealed megacolon extending from the middle of the transverse colon to the rectum. A rectal biopsy excluded H...

    journal_title:Acta neuropathologica

    pub_type: 杂志文章

    doi:10.1007/BF00688193

    authors: Lassmann G

    更新日期:1987-01-01 00:00:00

  • [Myelinopathy due to carbon monoxyde poisoning. A study in ultrastructural neuropathology (author's transl)].

    abstract::A 24-year-old woman was found comatose after 2 days of cephalalgia and vomiting. An immediate diagnosis of carbon monoxyde poisoning was disclaimed when blood carbon monoxyde was found to be 1.75 ml/100. A diagnosis of acute intracranial hypertension led to trephination with ventricular punction and brain biopsy on th...

    journal_title:Acta neuropathologica

    pub_type: 杂志文章

    doi:10.1007/BF00685010

    authors: Foncin JF,Le Beau J

    更新日期:1978-08-07 00:00:00

  • Patterns of microRNA expression in normal and early Alzheimer's disease human temporal cortex: white matter versus gray matter.

    abstract::MicroRNA (miRNA) expression was assessed in human cerebral cortical gray matter (GM) and white matter (WM) in order to provide the first insights into the difference between GM and WM miRNA repertoires across a range of Alzheimer's disease (AD) pathology. RNA was isolated separately from GM and WM portions of superior...

    journal_title:Acta neuropathologica

    pub_type: 杂志文章

    doi:10.1007/s00401-010-0756-0

    authors: Wang WX,Huang Q,Hu Y,Stromberg AJ,Nelson PT

    更新日期:2011-02-01 00:00:00

  • Pathological study on a severe sialidosis (alpha-neuraminidase deficiency).

    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

    authors: Yamano T,Shimada M,Matsuzaki K,Matsumoto Y,Yoshihara W,Okada S,Inui K,Yutaka T,Yabuuchi H

    更新日期:1986-01-01 00:00:00

  • MELAS: clinical phenotype and morphological brain abnormalities.

    abstract::We describe the clinical and neuropathological findings of three unrelated autopsy cases of MELAS harboring the A3243G transition in the mitochondrial DNA (mtDNA). Using immunohistochemical techniques, we studied the expression of several subunits of the respiratory chain in various brain regions from the same cases. ...

    journal_title:Acta neuropathologica

    pub_type: 杂志文章

    doi:10.1007/s00401-003-0716-z

    authors: Sparaco M,Simonati A,Cavallaro T,Bartolomei L,Grauso M,Piscioli F,Morelli L,Rizzuto N

    更新日期:2003-09-01 00:00:00

  • Correction to: 4-Repeat tau seeds and templating subtypes as brain and CSF biomarkers of frontotemporal lobar degeneration.

    abstract::The original version of this article unfortunately contained a mistake. The Panel A in the published figure 5 is incorrect. The corrected Figure 5 is placed in the following page. ...

    journal_title:Acta neuropathologica

    pub_type: 已发布勘误

    doi:10.1007/s00401-019-02092-y

    authors: Saijo E,Metrick MA 2nd,Koga S,Parchi P,Litvan I,Spina S,Boxer A,Rojas JC,Galasko D,Kraus A,Rossi M,Newell K,Zanusso G,Grinberg LT,Seeley WW,Ghetti B,Dickson DW,Caughey B

    更新日期:2020-01-01 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

    doi:10.1007/BF00691074

    authors: Kosaka K,Mehraein P

    更新日期:1978-12-15 00:00:00

  • Differential expression of tenascin-C and tenascin-X in human astrocytomas.

    abstract::Tenascins (TNs) are a family of extracellular matrix glycoproteins. The first member of this family to be recognized, tenascin-C (TN-C), is known to be expressed in various tumors including human astrocytomas. Tenascin-X (TN-X) is the latest member of the TN family to be reported, and its expression in tumor tissues h...

    journal_title:Acta neuropathologica

    pub_type: 杂志文章

    doi:10.1007/s004010050636

    authors: Hasegawa K,Yoshida T,Matsumoto K,Katsuta K,Waga S,Sakakura T

    更新日期:1997-05-01 00:00:00

  • Fine structure of psammoma bodies at the outer aspect of blood vessels in meningioma.

    abstract::Psammoma bodies at the perivascular area in five cases of meningioma were examined with the electron microscope. In general, meningocytic cells invest the outer aspect of blood vessels, which are constituted by multilayered basal laminae, collagen fibers, microfibrils, and pericytes. Remnants of degenerated cells are ...

    journal_title:Acta neuropathologica

    pub_type: 杂志文章

    doi:10.1007/BF00688693

    authors: Kubota T,Hirano A,Sato K,Yamamoto S

    更新日期:1985-01-01 00:00:00

  • Studies on experimental malignant nerve sheath tumors maintained in tissue and organ culture systems. III. Melanin pigment and melanogenesis in experimental neurogenic tumors: a reappraisal of the histogenesis of pigmented nerve sheath tumors.

    abstract::Four melanin pigment-containing intracranial tumors were found in three Long-Evans rats in the course of experimental oncogenesis by transplacental ethylnitrosourea (ENU). One of them was a leptomeningeal melanoma. Aside from the presence of scattered melanin-pigmented cells, the other three had the typical histologic...

    journal_title:Acta neuropathologica

    pub_type: 杂志文章

    doi:10.1007/BF00688941

    authors: Spence AM,Rubinstein LJ,Conley FK,Herman MM

    更新日期:1976-05-18 00:00:00

  • Subcortical afferent projection systems in Huntington's chorea.

    abstract::The number and nucleolar volume of nerve cells within the nucleus basalis of Meynert, locus caeruleus, substantia nigra and dorsal raphe were examined in five patients with Huntington's chorea. No significant changes in nerve cell number were noted in any area in any patient and, although nucleolar volume was reduced ...

    journal_title:Acta neuropathologica

    pub_type: 杂志文章

    doi:10.1007/BF00687718

    authors: Mann DM

    更新日期:1989-01-01 00:00:00

  • The spatial patterns of beta/A4 deposit subtypes in Alzheimer's disease.

    abstract::The spatial patterns of diffuse, primitive, classic (cored) and compact (burnt-out) subtypes of beta/A4 deposits were studied in coronal sections of the frontal lobe and hippocampus, including the adjacent gyri, in nine cases of Alzheimer's disease (AD). If the more mature deposits were derived from the diffuse deposi...

    journal_title:Acta neuropathologica

    pub_type: 杂志文章

    doi:10.1007/BF00454896

    authors: Armstrong RA,Myers D,Smith CU

    更新日期:1993-01-01 00:00:00

  • Gliomatosis cerebri in children shares molecular characteristics with other pediatric gliomas.

    abstract::Gliomatosis cerebri (GC), a rare and deadly CNS neoplasm characterized by involvement of at least three cerebral lobes, predominantly affects adults. While a few small series have reported its occurrence in children, little is known about the molecular characteristics of pediatric GC. We reviewed clinical, radiologica...

    journal_title:Acta neuropathologica

    pub_type: 杂志文章

    doi:10.1007/s00401-015-1532-y

    authors: Broniscer A,Chamdine O,Hwang S,Lin T,Pounds S,Onar-Thomas A,Shurtleff S,Allen S,Gajjar A,Northcott P,Orr BA

    更新日期:2016-02-01 00:00:00

  • Transplacental effect of 1-methyl-4-phenyl-1,2,3,6-tetrahydropyridine (MPTP) on brain dopaminergic neurons in the mouse. An immunohistochemical study.

    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

    authors: Furune S,Miura K,Watanabe K,Nagao S,Takahashi H,Sakai M,Spatz M,Nagatsu I

    更新日期:1989-01-01 00:00:00

  • Histopathological effects of intracerebral injections of human recombinant tumor necrosis factor-alpha in the rat.

    abstract::Human recombinant tumor necrosis factor-alpha (rTNF-alpha) was administered to normal Fischer 344 rats by stereotaxic intracerebral (IC) injection. Animals received a single injection of either 6 x 10(4) U rTNF-alpha or excipient in their right parietal lobe. Others received three consecutive daily injections of eithe...

    journal_title:Acta neuropathologica

    pub_type: 杂志文章

    doi:10.1007/BF00304638

    authors: Wright JL,Merchant RE

    更新日期:1992-01-01 00:00:00

  • CNS macrophages and peripheral myeloid cells in brain tumours.

    abstract::Primary brain tumours (gliomas) initiate a strong host response and can contain large amounts of immune cells (myeloid cells) such as microglia and tumour-infiltrating macrophages. In gliomas the course of pathology is not only controlled by the genetic make-up of the tumour cells, but also depends on the interplay wi...

    journal_title:Acta neuropathologica

    pub_type: 杂志文章,评审

    doi:10.1007/s00401-014-1274-2

    authors: Glass R,Synowitz M

    更新日期:2014-09-01 00:00:00