Neuropathology
0919-6544
1440-1789
Anh Quốc
Cơ quản chủ quản: Wiley-Blackwell Publishing Ltd , WILEY
Lĩnh vực:
Medicine (miscellaneous)Pathology and Forensic MedicineNeurology (clinical)
Phân tích ảnh hưởng
Thông tin về tạp chí
Neuropathology is an international journal sponsored by the Japanese Society of Neuropathology and publishes peer-reviewed original papers dealing with all aspects of human and experimental neuropathology and related fields of research. The Journal aims to promote the international exchange of results and encourages authors from all countries to submit papers in the following categories: Original Articles, Case Reports, Short Communications, Occasional Reviews, Editorials and Letters to the Editor. All articles are peer-reviewed by at least two researchers expert in the field of the submitted paper.
Các bài báo tiêu biểu
FKBP12 immunoreactivity in the human spinal cord of motor neuron disease patients We investigated the FKBP12 immunoreactivity in the spinal cord of neurological controls and motor neuron disease (MND) patients. In the neurological controls, the spinal neurons were markedly stained with antihuman FKBP12 (N‐19 and C‐19) antibodies. FKBP12 immunoreactivity was associated with lipofuscin in formalin‐fixed paraffin‐embedded samples. In an electron microscopic view, the 10‐nm colloidal gold particles labeled by the anti‐FKBP12 (N‐19) antibody were present on the lipofuscin of the spinal anterior horn neurons. In the MND cases, atrophic neurons with an abundance of lipofuscin granules in the anterior horns of the spinal cord were mildly stained with the anti‐FKBP12 (N‐19 and C‐19) antibodies. Normal‐appearing neurons, inclusion‐laden neurons and chromatolytic neurons of MND cases were weak or negatively stained with anti‐FKBP12 (N‐19) antibodies. These findings suggest that FKBP12 (N‐19) may decrease in the early stages of degeneration in MND. Complexes of FKBP12 and ligands were reported to have neuroprotective and/or neuroregenerative properties. It is speculated that the decrease in FKBP12 (N‐19) plays some causative role in the development of neurodegeneration in MND. Further investigation of FKBP12 and ligands may help elucidate the pathogenesis of MND.
Tập 22 Số 4 - Trang 269-274 - 2002
Up‐regulation of plakophilin‐2 is correlated with the progression of glioma Glioma is the most common type of primary brain tumor in the CNS. Due to its poor prognosis and high mortality rates, it is urgent to find out more effective therapies. Plakophilin‐2 (PKP2) is a widespread desmosomal plaque protein. Recently, the important roles of PKP2 in the proliferation and migration of cancer cells and tumor progression has been shown. However, the expression and potential function of PKP2 in glioma was still unclear. In this study, we demonstrated that PKP2 protein expression level was increased in glioma tissues compared with normal brain tissues, and its level was significantly associated with the Ki‐67 expression and WHO grade by Western blot analysis and immunohistochemistry. Clinically, high PKP2 expression was tightly related to poor prognosis of glioma patients. Interestingly, we found that down‐regulated PKP2 expression was shown to inhibit the migration of cells in glioma. Moreover, cell counting kit (CCK)‐8 and colony formation analyses proved that reduced expression of PKP2 could weaken glioma cell proliferation. Taken together, these data uncover a potential role for PKP2 in the pathogenic process of glioma, suggesting that PKP2 may be a promising therapeutic target of glioma.
Tập 37 Số 3 - Trang 207-216 - 2017
Homozygous splice‐site mutation c.78 + 5G>A in <i>PMP22</i> causes congenital hypomyelinating neuropathy Congenital hypomyelinating neuropathy (CHN) presents in the neonatal period and results in delayed development of sensory and motor functions due to several gene mutations including in EGR2 , MPZ , CNTNAP1 , and PMP22 . The phenotype of homozygous splice‐site mutation in the PMP22 gene has not been described in humans or animal models. Here we describe a family carrying a pathogenic splice‐site c.78 + 5G>A mutation in the PMP22 gene. We evaluated the clinical, electrophysiological, histological, and genetic features of the family. The proband with homozygous mutation presented with CHN, while his consanguineous parents with heterozygous mutation were asymptomatic. The proband was a 7‐year‐old boy. He had motor retardation after birth and had remained unable to walk independently at the time of the study. The compound muscle action potentials and sensory nerve action potentials were not recordable in the boy. The motor and sensory nerve conduction velocities of the parents were slightly to moderately decreased, although they had no symptoms of peripheral neuropathy. The sural nerve biopsy of the boy revealed hypomyelinating neuropathy with absence of large myelinated fibers, no myelin breakdown products, and numerous basal lamina onion bulb formations. To our knowledge, this is the first report of a homozygous splice‐site mutation in the PMP22 gene in humans. Our study expands the phenotype and genotype of PMP22 ‐related neuropathy.
Tập 39 Số 6 - Trang 441-446 - 2019
Chameleons and mimics: Progressive supranuclear palsy and corticobasal degeneration Progressive supranuclear palsy (PSP) and corticobasal degeneration (CBD) are neurodegenerative disorders that show parkinsonism as their main symptom. Both PSP and CBD are sporadic tauopathies associated with hyperphosphorylated four‐repeat tau aggregation in neurons and glial cells. The characteristic pathologies of PSP are midbrain atrophy and the appearance of tufted astrocytes and globose‐type neurofibrillary tangles. PSP shows severe degeneration in the globus pallidus, substantia nigra, subthalamic nucleus, and cerebellar dentate nuclei. Conversely, the characteristic pathologies of CBD are cortical atrophy and the appearance of astrocytic plaques and argyrophilic threads. CBD is associated with severe degeneration in the cerebral white matter, substantia nigra, and globus pallidus. Clinical symptoms depend on the topographical distribution and severity of degeneration rather than on the type of aggregated protein or inclusions. PSP and CBD present clinically differential diagnostic difficulties because of their overlapping pathological distributions.
Tập 40 Số 1 - Trang 57-67 - 2020
Chromosome 1p and 19q status and p53 and p16 expression patterns as prognostic indicators of oligodendroglial tumors: A clinicopathological study using fluorescence <i>in situ</i> hybridization To verify the prognostic implications of the statuses of chromosome 1p and 19q and the expressions of p53, p16 and GFAP in oligodendrogliomas, we investigated these parameters and correlated the results with patient outcome. Twenty‐seven cases of low‐grade oligodendroglioma (LO) and 29 cases of anaplastic oligodendroglioma (AO) were analyzed by FISH for 1p and 19q status and by immunohistochemistry for p53, p16, and GFAP expression using a tissue microarray. Direct sequencing of the p53 gene was also performed. 1p deletion was observed in 39 of 56 patients (69.9%), and 19q deletion in 41 of 56 (73.2%). Combined loss of 1p and 19q was found in 38 of 56 (67.9%) and exhibited distinct concomitant deletion (P = 0.000). p53 overexpression was observed in 17 cases (30.3%), GFAP expression in 18 cases (32.1%), and p16 loss in 40 cases (74%) of oligodendrogliomas. The expressions of p53 and GFAP were more frequent in AO than in LO (P = 0.015 and 0.001). In contrast, p53 expression was more common in oligodendrogliomas with an intact 19q (P = 0.029), or an intact 1p (P = 0.071). Only five of 14 patients with p53 expression showed TP53 mutation, which was inversely correlated with 1p deletion (P = 0.036). Patients with combined loss of 1p and 19q exhibited better overall survival (P = 0.045). Patients with p53 expression without combined 1p and 19q loss showed poor overall survival (P < 0.000). However, TP53 mutation along with 1p and 19q status could not predict patient outcome. Patients with p16 loss without combined 1p and 9q loss showed poor overall survival (P = 0.011). Therefore, in oligodendrogliomas, the absence of the combined deletion of 1p and 19q and the aberrant expression of p53 or loss of p16 could be used as poor prognostic markers.
Tập 27 Số 1 - Trang 10-20 - 2007
Pediatric glioblastoma with oligodendroglioma component: Aggressive clinical phenotype with distinct molecular characteristics The 2007 World Health Organization classification defined a new variant of glioblastoma (GBM ) containing oligodendroglioma foci as GBM with an oligodendroglioma component (GBMO ), which shows a favorable clinical outcome compared with “classic” GBM . However, all of the reported cases of GBMO have been adult cases, with no previous reports of pediatric cases. In this report, we demonstrated molecular characteristics of a pediatric GBMO case, showing aggressive clinical behavior with 8‐month overall survival. The case showed neither isocitrate dehydrogenase 1/2 genes (IDH1/2 ) mutation nor 1p/19q co‐deletion, a hallmark of oligodendroglioal tumors. In addition, microsatellite instability, leading to the putative mechanism of temozolomide (TMZ ) resistance, was frequently detected. Molecular genetic analysis may provide critical prognostic and therapeutic insights, especially for the pediatric glioma containing oligodendroglioma components.
Tập 33 Số 6 - Trang 652-657 - 2013
The role of neuroimaging in mild cognitive impairment The main purposes of neuroimaging in Alzheimer's disease (AD) have been moved from diagnosis of advanced AD to diagnosis of very early AD at a prodromal stage of mild cognitive impairment, prediction of conversion from mild cognitive impairment (MCI) to AD, and differential diagnosis from other diseases causing dementia. Structural MRI studies and functional studies using F‐18 fluorodeoxyglucose‐positron emission tomography (FDG‐PET) and brain perfusion single‐photon emission computed tomography (SPECT) are widely used in diagnosis of AD. Outstanding progress in diagnostic accuracy of these neuroimaging modalities has been obtained using statistical analysis on a voxel‐by‐voxel basis after spatial normalization of individual scans to a standardized brain‐volume template instead of visual inspection or a conventional region of interest technique. In a very early stage of AD, this statistical approach revealed gray matter loss in the entorhinal and hippocampal areas and hypometabolism or hypoperfusion in the posterior cingulate cortex and precuneus. These two findings might be related in view of anatomical knowledge that the regions are linked through the circuit of Papez. This statistical approach also offers prediction of conversion from MCI to AD. Presence of hypometabolism or hypoperfusion in parietal association areas and entorhinal atrophy at the MCI stage has been reported to predict rapid conversion to AD.
Tập 27 Số 6 - Trang 570-577 - 2007
Neuroimaging of epilepsy It can sometimes be difficult, when examining surgical specimens, to detect underlying pathological abnormalities that may account for disordered electrical activity. For accurate diagnosis, neuropathologists and clinicians need to share common preoperative information about resected brain tissue. Our group has been able to use structural, functional, and electrophysiological neuroimaging techniques to visualize epileptogenic areas preoperatively. MRI is the most sensitive and useful examination to demonstrate structural abnormalities in patients with partial or localization‐related epilepsy. Temporal lobe epilepsy, neoplastic lesions, vascular lesions, and developmental anomaly can all be surgically corrected under favorable circumstances. Functional neuroimaging by positron emission tomography (PET) and single‐photon emission computed tomography (SPECT) are useful tools for detecting epileptic foci. PET and SPECT demonstrate subtle functional changes related to epilepsy that ultimately may enable the detection of epileptogenic areas invisible to MRI. PET/SPECT images coregistered to MRI and statistical parametric mappings are of more value for detecting than PET/SPECT images alone. Electrophysiological neuroimaging with analytical software is very useful for visually understanding epileptogenic phenomena. Computerized voltage topographic mappings overlapped on three‐dimensional MRI with multichannel electrodes visually demonstrate ictal onset areas and seizure propagation. A new method of multimodal image‐guided intervention enables the detection of epileptogenic areas by electrocorticography, PET images, and MRI during epilepsy surgery. Neuropathologists using this method can collect precise structural, functional, and electrophysiological findings on surgical specimens. Neuroimaging of epilepsy is useful for visually clarifying structural, functional, and electrophysiological information on epilepsy patients. This approach is key for diagnosing the background pathological abnormalities of resected tissue.
Tập 27 Số 6 - Trang 585-593 - 2007