Studies in transgenic mice indicate a loss of connexin32 function in X-linked Charcot-Marie-Tooth disease.

abstract：:Retinal vasculopathy with cerebral leukodystrophy (RVCL) is an autosomal-dominant disorder involving the cerebral, retinal, renal, and other systemic microvessels due to frameshift mutations in the TREX1 gene. Under physiological conditions, the TREX1 protein is localized in the cellular cytoplasm and perinuclear area...

journal_title：Journal of neuropathology and experimental neurology

authors： Saito R,Nozaki H,Kato T,Toyoshima Y,Tanaka H,Tsubata Y,Morioka T,Horikawa Y,Oyanagi K,Morita T,Onodera O,Kakita A

更新日期：2019-02-01 00:00:00

abstract：:The external segment of the globus pallidus (GPe) in humans and the equivalent structure in rodents, the globus pallidus (GP), influence signal processing in the basal ganglia under normal and pathological conditions. Parvalbumin (PV) immunoreactivity defines 2 main neuronal subpopulations in the GP/GPe: PV-immunoposi...

journal_title：Journal of neuropathology and experimental neurology

authors： Fernández-Suárez D,Celorrio M,Lanciego JL,Franco R,Aymerich MS

更新日期：2012-11-01 00:00:00

abstract：:The triplication of the DYRK1A gene encoding proline-directed serine/threonine kinase and located in the critical region of Down syndrome (DS) has been implicated in cognitive deficits and intellectual disability of individuals with DS. We investigated the effect of abnormal levels of this kinase on the cytoskeleton i...

journal_title：Journal of neuropathology and experimental neurology

authors： Dowjat K,Adayev T,Kaczmarski W,Wegiel J,Hwang YW

更新日期：2012-12-01 00:00:00

abstract：:Sibling concurrence of pathologically confirmed prion disease has only been reported in association with pathogenic mutation of the prion protein gene (PRNP). Here, we report 2 siblings with classic neuropathologic features of sporadic Creutzfeldt-Jakob disease unexplained by PRNP mutation or known risk factors for ia...

journal_title：Journal of neuropathology and experimental neurology

authors： Webb TE,Pal S,Siddique D,Heaney DC,Linehan JM,Wadsworth JD,Joiner S,Beck J,Wroe SJ,Stevenson V,Brandner S,Mead S,Collinge J

更新日期：2008-09-01 00:00:00

abstract：:PROX1 is a prospero-related transcription factor that plays a critical role in the development of various organs including the mammalian lymphatic and central nervous systems; it controls cell proliferation and differentiation through different transcription pathwaysand has both oncogenic and tumor-suppressive functio...

journal_title：Journal of neuropathology and experimental neurology

authors： Elsir T,Eriksson A,Orrego A,Lindström MS,Nistér M

更新日期：2010-02-01 00:00:00

abstract：:Oligodendrogliomas are characterized by frequent loss of heterozygosity (LOH) on chromosomes 1p and 19q, but additional genetic alterations are likely to be involved. In this study, we screened 28 oligodendrogliomas (WHO grade II) and 20 anaplastic oligodendrogliomas (WHO grade III) for alterations in the RB1/CDK4/p16...

journal_title：Journal of neuropathology and experimental neurology

authors： Watanabe T,Yokoo H,Yokoo M,Yonekawa Y,Kleihues P,Ohgaki H

更新日期：2001-12-01 00:00:00

abstract：:McArdle disease (muscle glycogenosis type V) is caused by myophosphorylase deficiency, which leads to impaired glycogen breakdown. We investigated how myophosphorylase deficiency affects muscle physiology, morphology, and glucose metabolism in 20-week-old McArdle mice and compared the findings to those in McArdle dise...

journal_title：Journal of neuropathology and experimental neurology

authors： Krag TO,Pinós T,Nielsen TL,Brull A,Andreu AL,Vissing J

更新日期：2016-05-01 00:00:00

abstract：:Mutation A30P in the alpha-synuclein gene is a cause of familial Parkinson disease. Transgenic mice expressing wild mouse and mutant human A30P alpha-synuclein, Tg5093 mice (Tg), show a progressive motor disorder characterized by tremor, rigidity, and dystonia, accompanied by accumulation of alpha-synuclein in the som...

journal_title：Journal of neuropathology and experimental neurology

authors： Dalfó E,Gómez-Isla T,Rosa JL,Nieto Bodelón M,Cuadrado Tejedor M,Barrachina M,Ambrosio S,Ferrer I

更新日期：2004-04-01 00:00:00

abstract：:LR11 is an ApoE receptor that is enriched in the brain. We have shown that LR11 is markedly downregulated in patients with sporadic Alzheimer disease (AD). This finding led us to explore whether reduced LR11 expression reflects a primary mechanism of disease or merely a secondary consequence of other AD-associated cha...

journal_title：Journal of neuropathology and experimental neurology

authors： Dodson SE,Gearing M,Lippa CF,Montine TJ,Levey AI,Lah JJ

更新日期：2006-09-01 00:00:00

abstract：:Histological examination by light and electron microscopy of the spinal cords of four dogs rapidly perfusion-fixed after the onset of decompression sickness revealed the presence of numerous non-staining, space-occupying lesions that were absent in similarly prepared sections of control or ischemic spinal cords. We pr...

journal_title：Journal of neuropathology and experimental neurology

authors： Francis TJ,Pezeshkpour GH,Dutka AJ,Hallenbeck JM,Flynn ET

更新日期：1988-07-01 00:00:00

abstract：:Precise temporal and spatial coordination of expression of the myogenic regulatory factors (MRF) plays a critical role in the development of skeletal muscle. Whether this pattern is recapitulated postnatally during regeneration of mature muscle after injury is not known. The aim of this study was to determine the cell...

journal_title：Journal of neuropathology and experimental neurology

authors： Bhagavati S,Ghatpande A,Shafiq SA,Leung B

更新日期：1996-05-01 00:00:00

abstract：:The relevance of cerebral amyloid angiopathy (CAA) to the pathogenesis of Alzheimer disease (AD) and dementia in general emphasizes the importance of developing novel targeting approaches for detecting and treating cerebrovascular amyloid (CVA) deposits. We developed a nanoparticle-based technology that uses a monoclo...

journal_title：Journal of neuropathology and experimental neurology

authors： Poduslo JF,Hultman KL,Curran GL,Preboske GM,Chamberlain R,Marjańska M,Garwood M,Jack CR Jr,Wengenack TM

更新日期：2011-08-01 00:00:00

abstract：:Experimental cerebral ischemia was produced in gerbils by occlusion of the right common carotid artery in the neck. The evolution of the ischemic lesions was followed from five minutes to six hours by using the immunohistochemical techniques for tubulin and creatine kinase BB-isoenzyme. The earliest lesion was found i...

journal_title：Journal of neuropathology and experimental neurology

authors： Yanagihara T,Yoshimine T,Morimoto K,Yamamoto K,Homburger HA

更新日期：1985-03-01 00:00:00

abstract：:The microtubule-associated phosphoprotein, tau, is an integral component of paired helical filaments in Alzheimer neurofibrillary tangles (NFT). The mechanism of NFT formation is unknown but aberrant phosphorylation of tau may be contributory. Calcium/calmodulin-dependent protein kinase type II (CaM kinase II), the mo...

journal_title：Journal of neuropathology and experimental neurology

authors： McKee AC,Kosik KS,Kennedy MB,Kowall NW

更新日期：1990-01-01 00:00:00

abstract：:Neuroaxonal dystrophy, a distinctive axonopathy characterized by marked enlargement of distal axons, is the hallmark pathologic alteration in aged and diabetic human prevertebral sympathetic ganglia and in corresponding rodent models. Neuroaxonal dystrophy is thought to represent the abnormal outcome of cycles of syna...

journal_title：Journal of neuropathology and experimental neurology

authors： Schmidt RE,Parvin CA,Green KG

更新日期：2008-12-01 00:00:00

abstract：:The prognosis of gliomas is generally poor since these tumors elude established therapeutic approaches. Immunotherapy might present an effective therapy in particular because the glioma cells are diffusely dispersed in the infiltration zone of the tumor and show a strong propensity to invade the surrounding brain alon...

journal_title：Journal of neuropathology and experimental neurology

authors： Vetter M,Hofer MJ,Roth E,Pircher HP,Pagenstecher A

更新日期：2009-05-01 00:00:00

abstract：:Lysosomal storage disorders constitute a large group of genetic diseases, many of which are characterized by mental retardation and other neurologic symptoms. The mechanisms of neural dysfunction remain poorly understood. Because neural progenitor cells (NPCs) are fundamentally important to normal brain development an...

journal_title：Journal of neuropathology and experimental neurology

authors： Walton RM,Wolfe JH

更新日期：2007-08-01 00:00:00

abstract：:Multiple system atrophy (MSA) is a neurodegenerative disorder that predominantly affects motor-related neuroanatomic structures. The role of microglia in MSA is unknown. To address this issue, we conducted quantitative image studies on the brains from 13 cases of MSA, comprising 8 cerebellar and 5 parkinsonian variant...

journal_title：Journal of neuropathology and experimental neurology

authors： Ishizawa K,Komori T,Sasaki S,Arai N,Mizutani T,Hirose T

更新日期：2004-01-01 00:00:00

abstract：:An experimental neuropathy in rats produced by tying loosely constrictive ligatures around one sciatic nerve has recently been shown to produce pain-related behavior that follows a reproducible time course. In the present study, we assessed the degree of thermal hyperesthesia and examined the sciatic nerves by light a...

journal_title：Journal of neuropathology and experimental neurology

authors： Sommer C,Galbraith JA,Heckman HM,Myers RR

更新日期：1993-05-01 00:00:00

abstract：:Lewy body-like hyaline inclusions in the soma and swollen, cord-like cell processes are characteristic alterations of the anterior horn cells in familial amyotrophic lateral sclerosis (ALS) with posterior column and spinocerebellar tract involvement. A fine structural analysis of these two structures has been performe...

journal_title：Journal of neuropathology and experimental neurology

authors： Hirano A,Nakano I,Kurland LT,Mulder DW,Holley PW,Saccomanno G

更新日期：1984-09-01 00:00:00

abstract：:The blood-brain barrier (BBB) is recognized as a barrier to the trafficking of molecules and cellular elements into the central nervous system (CNS). Horseradish peroxidase (HRP) exclusion is used as a measure of BBB integrity. The BBB is altered and becomes permeable during the course of experimental allergic encepha...

journal_title：Journal of neuropathology and experimental neurology

authors： Knobler RL,Marini JC,Goldowitz D,Lublin FD

更新日期：1992-01-01 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：: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：:After experimental nerve injuries that extensively disrupt axons, such as chronic constriction injury, immune cells invade the nerve, related dorsal root ganglia (DRGs), and spinal cord, leading to hyperexcitability, raised sensitivity, and pain. Entrapment neuropathies, such as carpal tunnel syndrome, involve minimal...

journal_title：Journal of neuropathology and experimental neurology

authors： Schmid AB,Coppieters MW,Ruitenberg MJ,McLachlan EM

更新日期：2013-07-01 00:00:00

abstract：:The abundant axonal microtubule-associated protein tau regulates microtubule and actin dynamics, thereby contributing to normal neuronal function. We examined whether mice deficient in tau (Tau(-/-)) or with high levels of human tau differ from wild-type (WT) mice in their susceptibility to neuroaxonal injury in exper...

journal_title：Journal of neuropathology and experimental neurology

authors： Weinger JG,Davies P,Acker CM,Brosnan CF,Tsiperson V,Bayewitz A,Shafit-Zagardo B

更新日期：2012-05-01 00:00:00

abstract：:Defects in synaptic development and plasticity may lead to autism. Brain-derived neurotrophic factor (BDNF) plays a critical role in synaptogenesis and synaptic plasticity. BDNF is synthesized as a precursor, pro-BDNF, which can be processed into either a truncated form or into mature BDNF. Previous studies reported i...

journal_title：Journal of neuropathology and experimental neurology

authors： Garcia KL,Yu G,Nicolini C,Michalski B,Garzon DJ,Chiu VS,Tongiorgi E,Szatmari P,Fahnestock M

更新日期：2012-04-01 00:00:00

abstract：:The association of Charcot-Marie-Tooth (CMT) disease with renal dysfunction is uncommon but has long been recognized in several families. Recently, mutations in the INF2 gene, which encodes inverted formin-2, were identified in patients with focal segmental glomerulosclerosis and a dominant intermediate form of CMT (C...

journal_title：Journal of neuropathology and experimental neurology

authors： Mathis S,Funalot B,Boyer O,Lacroix C,Marcorelles P,Magy L,Richard L,Antignac C,Vallat JM

更新日期：2014-03-01 00:00:00

abstract：:To test the hypothesis that Alzheimer disease (AD) is a clinical and pathologic continuum between normal aging and end-stage dementia, we selected a convenience sample of subjects from the National Alzheimer Coordinating Center 2005 to 2012 autopsy cohort (n = 2,083) with the last clinical evaluation within 2 years be...

journal_title：Journal of neuropathology and experimental neurology

authors： Serrano-Pozo A,Qian J,Monsell SE,Frosch MP,Betensky RA,Hyman BT

更新日期：2013-12-01 00:00:00

abstract：:Cutaneous and leptomeningeal vascular malformations are hallmarks of the Sturge-Weber Syndrome (SWS), resulting in chronic ischemic tissue damage. The mechanisms underlying the pathobiology of these progressive lesions are unknown. Aberrant expression of angiogenic factors has been implicated in the genesis and mainte...

journal_title：Journal of neuropathology and experimental neurology

authors： Comati A,Beck H,Halliday W,Snipes GJ,Plate KH,Acker T

更新日期：2007-01-01 00:00:00

abstract：:Bcl-2, a cell death suppressor protein, is expressed during brain development but is largely down-regulated in the adult central nervous system. We previously reported strong expression of bcl-2 in small, "oligodendrocyte-like" cells (OLC) found in glioneuronal hamartias. These hamartias are microscopic cell rests fou...

journal_title：Journal of neuropathology and experimental neurology

authors： Yachnis AT,Roper SN,Love A,Fancey JT,Muir D

更新日期：2000-02-01 00:00:00