Neuromuscular pathology in hereditary gelsolin amyloidosis.

abstract：:Brain arteriovenous malformations (bAVMs) are congenital anomalies of blood vessels that cause intracranial hemorrhage in children and young adults. Chromosomal rearrangements and fusion genes play an important role in tumor pathogenesis, though the role of fusion genes in bAVM pathophysiological processes is unclear....

journal_title：Journal of neuropathology and experimental neurology

authors： Yan Z,Fan G,Li H,Jiao Y,Fu W,Weng J,Huo R,Wang J,Xu H,Wang S,Cao Y,Zhao J

更新日期：2021-01-01 00:00:00

abstract：:Friedreich's Ataxia (FRDA) is caused by a homozygous intronic GAA expansion in the FXN gene. FRDA affects primarily the peripheral nervous system (PNS) with cumulative evidence from postmortem studies and in vitro models suggesting a developmental component of its pathology. In the present study, we aimed at gaining f...

journal_title：Journal of neuropathology and experimental neurology

authors： Indelicato E,Nachbauer W,Eigentler A,Rudzki D,Wanschitz J,Boesch S

更新日期：2018-12-01 00:00:00

abstract：:Studies dealing with transport of proteins from the oligodendrocyte cell body to the myelin sheath reveal the presence of different transport pathways. Proteolipid protein (PLP) is synthesized at the rough endoplasmic reticulum (ER) and then processed through the Golgi apparatus and transported to the myelin membranes...

journal_title：Journal of neuropathology and experimental neurology

authors： Bauer J,Bradl M,Klein M,Leisser M,Deckwerth TL,Wekerle H,Lassmann H

更新日期：2002-01-01 00:00:00

abstract：:In a recent study we estimated the number and frequency distribution of the diameters of the cytons of all of the combined motoneuron columns of L3, L4 and L5 ventral horn of the spinal cord of man. In the present study we have estimated the number and frequency distribution of the diameter of motoneuron cytons in the...

journal_title：Journal of neuropathology and experimental neurology

authors： Kawamura Y,Dyck PJ

更新日期：1977-11-01 00:00:00

abstract：:Recent studies have shown that deficient functioning of glutamate transporters (GTs) in Alzheimer disease (AD) might lead to neurodegeneration. The main objectives of the present study were to determine which GT subtype is most affected in AD and to asses to what extent altered GT function is associated with abnormal ...

journal_title：Journal of neuropathology and experimental neurology

authors： Li S,Mallory M,Alford M,Tanaka S,Masliah E

更新日期：1997-08-01 00:00:00

abstract：:Neoplastic transformation is often associated with aberrant gap junctional intercellular communication. We assessed mutations and expression of the connexin43 (Cx43) gene in 49 intracranial meningiomas. SSCP analyses followed by direct DNA sequencing showed GCG-->GTG (Ala-->Val) transition mutation in codon 253 of the...

journal_title：Journal of neuropathology and experimental neurology

authors： Sato K,Gratas C,Lampe J,Biernat W,Kleihues P,Yamasaki H,Ohgaki H

更新日期：1997-07-01 00:00:00

abstract：:We studied differences in the number and morphology of parvalbumin-immunoreactive (PV-IR) interneurons in 43 hippocampal specimens from patients with classical Ammon's horn sclerosis (AHS) who underwent anterior temporal lobectomy, as compared with 14 autopsy and non-AHS surgical control specimens. PV-IR neuronal loss...

journal_title：Journal of neuropathology and experimental neurology

authors： Zhu ZQ,Armstrong DL,Hamilton WJ,Grossman RG

更新日期：1997-09-01 00:00:00

abstract：:To determine if central nervous system (CNS) microvessel endothelial cells express class II major histocompatibility complex (MHC) molecules in early demyelinating lesions in humans, cerebral white matter (WM) biopsies from patients with acute inflammatory/demyelinating conditions, including 4 with multiple sclerosis ...

journal_title：Journal of neuropathology and experimental neurology

authors： van der Maesen K,Hinojoza JR,Sobel RA

更新日期：1999-04-01 00:00:00

abstract：:We have reported that the ambient gyrus is the site with the greatest accumulation of argyrophilic grains (AGs) and that the degeneration of the ambient gyrus is responsible for dementia with grains. Here we analyzed 1,405 serial autopsy cases from 2 hospitals and detected AGs only in cases older than 56 years of age....

journal_title：Journal of neuropathology and experimental neurology

authors： Saito Y,Ruberu NN,Sawabe M,Arai T,Tanaka N,Kakuta Y,Yamanouchi H,Murayama S

更新日期：2004-09-01 00:00:00

abstract：:Insight into processes leading to rupture of intracranial aneurysms (IAs) may identify biomarkers for rupture or lead to management strategies reducing the risk of rupture. We characterized and quantified (ultra)structural differences between unruptured and ruptured aneurysmal walls. Six unruptured and 6 ruptured IA f...

journal_title：Journal of neuropathology and experimental neurology

authors： Korkmaz E,Kleinloog R,Verweij BH,Allijn IE,Hekking LHP,Regli L,Rinkel GJE,Ruigrok YM,Andries Post J

更新日期：2017-10-01 00:00:00

abstract：:Mucopolysaccharidosis IIID (MPS IIID) is one of the rarest of the MPS-III syndromes. To date, the clinical manifestations of 10 patients have been reported, the deficient N-acetylglucosamine 6-sulfatase (G6S) enzyme has been purified, and the G6S gene has been cloned, sequenced and localized. However, morphological ma...

journal_title：Journal of neuropathology and experimental neurology

authors： Jones MZ,Alroy J,Rutledge JC,Taylor JW,Alvord EC Jr,Toone J,Applegarth D,Hopwood JJ,Skutelsky E,Ianelli C,Thorley-Lawson D,Mitchell-Herpolsheimer C,Arias A,Sharp P,Evans W,Sillence D,Cavanagh KT

更新日期：1997-10-01 00:00:00

abstract：:The main hallmarks of human hippocampal sclerosis are neuronal loss and gliosis; reductions in microvasculature labeling in the cornu Ammonis 1 in this condition have been detected using alkaline phosphatase histochemistry. To determine whether the reduction in alkaline phosphatase activity is coupled with a loss of b...

journal_title：Journal of neuropathology and experimental neurology

authors： Kastanauskaite A,Alonso-Nanclares L,Blazquez-Llorca L,Pastor J,Sola RG,DeFelipe J

更新日期：2009-08-01 00:00:00

abstract：:The number and extent of degranulation of mast cells in the sciatic nerve have been determined in Lewis rats inoculated with bovine intradural root myelin to induce experimental allergic neuritis (EAN). No significant change in either the number of mast cells or the percentage of degranulated cells was observed before...

journal_title：Journal of neuropathology and experimental neurology

authors： Brosman CF,Lyman WD,Tansey FA,Carter TH

更新日期：1985-03-01 00:00:00

abstract：:Clinical and neuropathological staging of Alzheimer disease (AD) neurodegeneration and neuronal loss dynamics is the baseline for identification of treatment targets and timing. The aim of this study of 14 brain regions in 25 subjects diagnosed with AD and 13 age-matched control subjects was to establish the pattern o...

journal_title：Journal of neuropathology and experimental neurology

authors： Wegiel J,Flory M,Kuchna I,Nowicki K,Ma SY,Wegiel J,Badmaev E,Leon M,Wisniewski T,Reisberg B

更新日期：2021-01-01 00:00:00

abstract：:The muscle biopsy from a 12-year-old boy with chronic creatine kinase elevation was studied by electron microscopy. At the age of 7 years the patient had a possible abortive attack of malignant hyperthermia. The biopsy specimen contained many fibres with segmental contracture and necrosis; thin sections showed defects...

journal_title：Journal of neuropathology and experimental neurology

authors： Schmalbruch H

更新日期：1979-07-01 00:00:00

abstract：:Lysosomal beta-hexosaminidase consists of 2 subunits, alpha and beta. Mutations in the alpha-subunit gene cause Tay-Sachs disease, while mutations in the beta-subunit gene cause Sandhoff disease. Mice generated by targeted disruption of either the alpha- or beta-subunit genes displayed the pathological features of Tay...

journal_title：Journal of neuropathology and experimental neurology

authors： Suzuki K,Sango K,Proia RL,Langaman C

更新日期：1997-06-01 00:00:00

abstract：:This morphometric study explores temporal and topographic changes in the estimated neuronal number in human neocortex during the latter half of gestation and early infancy. Neuronal estimates are calculated from standardized measurements of cortical layer thickness and neuronal density in 6 neocortical regions in 9 hu...

journal_title：Journal of neuropathology and experimental neurology

authors： Rabinowicz T,de Courten-Myers GM,Petetot JM,Xi G,de los Reyes E

更新日期：1996-03-01 00:00:00

abstract：:The DNA repair protein O6-methylguanine-DNA methyltransferase (MGMT) removes temozolomide-induced alkylation, thereby preventing DNA damage and cytotoxicity. We investigated the prognostic effect of different MGMT methylation levels on overall and progression-free survival in 327 patients with primary glioblastoma und...

journal_title：Journal of neuropathology and experimental neurology

authors： Dahlrot RH,Larsen P,Boldt HB,Kreutzfeldt MS,Hansen S,Hjelmborg JB,Kristensen BW

更新日期：2019-07-01 00:00:00

abstract：:Much of the morbidity after traumatic brain injury (TBI) is associated with traumatic axonal injury (TAI). Although most TAI studies focus on corpus callosum white matter, the visual system has received increased interest. To assess visual system TAI, we developed a mouse model of optic nerve TAI. It is unknown, howev...

journal_title：Journal of neuropathology and experimental neurology

authors： Wang J,Fox MA,Povlishock JT

更新日期：2013-08-01 00:00:00

abstract：:In many degenerative and metabolic muscle diseases cells die without a marked inflammatory response. A potential mechanism how this could be accomplished is apoptotic cell death. Since there are no data available about apoptosis in cells of myogenic origin, we examined rat skeletal myoblasts for their potential to und...

journal_title：Journal of neuropathology and experimental neurology

authors： Stangel M,Zettl UK,Mix E,Zielasek J,Toyka KV,Hartung HP,Gold R

更新日期：1996-01-01 00:00:00

abstract：:A series of 43 human gliomas, consisting of 30 glioblastomas, 7 anaplastic astrocytomas, 3 low grade astrocytomas, 2 ependymomas, and 1 oligodendroglioma, was studied for amplification of the epidermal growth factor receptor (EGFR) and mouse double minute 2 (MDM2) genes. DNA extracted from formalin-fixed, paraffin-emb...

journal_title：Journal of neuropathology and experimental neurology

authors： Hunter SB,Abbott K,Varma VA,Olson JJ,Barnett DW,James CD

更新日期：1995-01-01 00:00:00

abstract：:Multiple sclerosis (MS) is an inflammatory demyelinating disorder of the CNS. A recent study identified 4 patterns of demyelination in active MS lesions. The characteristics of pattern II lesions suggested a primary inflammatory mechanism of myelin injury, while pattern III lesions showed features consistent with dyin...

journal_title：Journal of neuropathology and experimental neurology

authors： Mahad DJ,Trebst C,Kivisäkk P,Staugaitis SM,Tucky B,Wei T,Lucchinetti CF,Lassmann H,Ransohoff RM

更新日期：2004-03-01 00:00:00

abstract：:Chronic experimental allergic encephalomyelitis (EAE), produced in inbred guinea pigs given a single inoculation during the juvenile period with isologous spinal cord in complete Freund's adjuvant, has been studied by light and electron microscopy. Most animals showed a delayed onset of nurologic signs from 12 to 68 w...

journal_title：Journal of neuropathology and experimental neurology

authors： Snyder DH,Valsamis MP,Stone SH,Raine CS

更新日期：1975-05-01 00:00:00

abstract：:Neuropathologists use anti-glial fibrillary acidic protein (GFAP) antibodies as specific markers for glial cells, and neurobiologists use GFAP for targeting transgenes to glial cells. Since GFAP has also been detected in non-glial cells, we systematically analyzed GFAP expression in human and murine non-CNS tissues us...

journal_title：Journal of neuropathology and experimental neurology

authors： Hainfellner JA,Voigtländer T,Ströbel T,Mazal PR,Maddalena AS,Aguzzi A,Budka H

更新日期：2001-05-01 00:00:00

abstract：:This investigation tested the hypothesis that the growth inhibiting effects of human beta-interferon on cultured human glioma cells involves changes in the ganglioside composition of these cells. Four cell lines derived from human malignant gliomas (12-18, U-251 MG, I29-A, 7-24) and two lines from human fetal brain (C...

journal_title：Journal of neuropathology and experimental neurology

authors： Yates AJ,Markowitz DL,Stephens RE,Pearl DK,Whisler RL

更新日期：1988-03-01 00:00:00

abstract：:AWe report on two siblings (brother and sister) who developed cerebral PNETs at the age of 5 years and 6 months, respectively. Both children were treated by operation followed by polychemotherapy. The brother also received cranio-spinal irradiation. Nevertheless, the children died about 12 months and 24 months post-op...

journal_title：Journal of neuropathology and experimental neurology

authors： Reifenberger J,Janssen G,Weber RG,Boström J,Engelbrecht V,Lichter P,Borchard F,Göbel U,Lenard HG,Reifenberger G

更新日期：1998-02-01 00:00:00

abstract：:A working group supported by the Office of Rare Diseases of the National Institutes of Health formulated neuropathologic criteria for corticobasal degeneration (CBD) that were subsequently validated by an independent group of neuropathologists. The criteria do not require a specific clinical phenotype, since CBD can h...

journal_title：Journal of neuropathology and experimental neurology

authors： Dickson DW,Bergeron C,Chin SS,Duyckaerts C,Horoupian D,Ikeda K,Jellinger K,Lantos PL,Lippa CF,Mirra SS,Tabaton M,Vonsattel JP,Wakabayashi K,Litvan I,Office of Rare Diseases of the National Institutes of Health.

更新日期：2002-11-01 00:00:00

abstract：:Werdnig-Hoffmann disease (WHD) is the most severe clinical type of spinal muscular atrophy characterized by loss of lower motor neurons and paralysis. We examined the hypothesis that disease pathogenesis is based on an inappropriate persistence of normally occurring motor neuron programmed cell death. The diagnosis of...

journal_title：Journal of neuropathology and experimental neurology

authors： Simic G,Seso-Simic D,Lucassen PJ,Islam A,Krsnik Z,Cviko A,Jelasic D,Barisic N,Winblad B,Kostovic I,Kruslin B

更新日期：2000-05-01 00:00:00

abstract：:Centrosome amplification is a pivotal mechanism underlying tumorigenesis but its role in gliomas is underinvestigated. The present study specifically examines the expression and distribution of the centrosome-associated cytoskeletal protein gamma-tubulin in 56 primary diffuse astrocytic gliomas (grades II-IV) and in 4...

journal_title：Journal of neuropathology and experimental neurology

authors： Katsetos CD,Reddy G,Dráberová E,Smejkalová B,Del Valle L,Ashraf Q,Tadevosyan A,Yelin K,Maraziotis T,Mishra OP,Mörk S,Legido A,Nissanov J,Baas PW,de Chadarévian JP,Dráber P

更新日期：2006-05-01 00:00:00

abstract：:The favorable response of oligodendrogliomas correlates well with characteristic chromosomal losses, of which loss of the short arm of chromosome 1 is most predictive. Oligodendrogliomas are histopathologically heterogeneous tumors and, in addition to the classic honeycomb histology, fields of nonclassic histology are...

journal_title：Journal of neuropathology and experimental neurology

authors： Kros JM,van der Weiden M,Zheng PP,Hop WC,van den Bent MJ,Kouwenhoven MC

更新日期：2007-12-01 00:00:00