Journal of Neuropathology and Experimental Neurology 
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This is an RSS file. You can use it to subscribe to this data in your favourite RSS reader or to display this data on your own website or blog.A Novel Tau Mutation in Exon 12, p.Q336H, Causes Hereditary Pick Disease
Abstract: Pick disease (PiD) is a frontotemporal lobar degeneration with distinctive neuronal inclusions (Pick bodies) that are enriched in 3-repeat (3R) tau. Although mostly sporadic, mutations in the tau gene (MAPT) have been reported. We screened 24 cases of neuropathologically confirmed PiD for MAPT mutations and found a novel mutation (c.1008G>C, p.Q336H) in 1 patient. Pathogenicity was confirmed on microtubule assembly and tau filament formation assays. The patient was compared with sporadic PiD and PiD associated with MAPT mutations from a review of the literature. The patient had behavioral changes at 55 years of a...
Source: Journal of Neuropathology and Experimental Neurology - October 17, 2015 Category: Neurology Tags: Original Articles Source Type: research
In This Issue
No abstract available (Source: Journal of Neuropathology and Experimental Neurology)
Source: Journal of Neuropathology and Experimental Neurology - October 17, 2015 Category: Neurology Tags: In This Issue Source Type: research
Single Neuron Studies of the Human Brain: Probing Cognition
No abstract available (Source: Journal of Neuropathology and Experimental Neurology)
Source: Journal of Neuropathology and Experimental Neurology - September 17, 2015 Category: Neurology Tags: Book Review Source Type: research
2015 Award Recipients—Bette Kay Kleinschmidt-DeMasters, MD and John Q. Trojanowski, MD, PhD
No abstract available (Source: Journal of Neuropathology and Experimental Neurology)
Source: Journal of Neuropathology and Experimental Neurology - September 17, 2015 Category: Neurology Tags: Meritorious Awards Source Type: research
Ultrastructural Changes in the White and Gray Matter of Mice at Chronic Time Points After Repeated Concussive Head Injury
Abstract: Mild traumatic brain injury is a risk factor for neurodegenerative disease. We recently developed a model of repetitive concussive injury in mice that we have extensively characterized from 24 hours to 24 months after injury. Animals show evidence of progressive spatial memory deficits, thinning of the corpus callosum, axonal injury, and neuroglial activation. Here, we extended our neuropathologic characterization to the ultrastructural level in both a qualitative and a quantitative study. We focused on chronic (3 and 6 months) postinjury time points when the earliest stages of degenerative secondary changes were...
Source: Journal of Neuropathology and Experimental Neurology - September 17, 2015 Category: Neurology Tags: Original Articles Source Type: research
A Cluster of CNS Infections Due to B. cereus in the Setting of Acute Myeloid Leukemia: Neuropathology in 5 Patients
We describe a cluster of B. cereus infections among 5 patients with acute myeloid leukemia and chemotherapy-induced neutropenia. The initial case presented with occipital lobe abscess and was found on biopsy to have organisms consistent with Bacillus species. Within 1 week, a second patient died of fulminant brain swelling and hemorrhage. Neuropathologic autopsy and culture revealed B. cereus; hospital infection control and public health officials were notified. Three more patients died within the subsequent 9 months (2 patients had rapid massive hemorrhage and many bacilli reminiscent of Bacillus anthracis infection, and ...
Source: Journal of Neuropathology and Experimental Neurology - September 17, 2015 Category: Neurology Tags: Original Articles Source Type: research
Neuroinflammatory Gene Regulation, Mitochondrial Function, Oxidative Stress, and Brain Lipid Modifications With Disease Progression in Tau P301S Transgenic Mice as a Model of Frontotemporal Lobar Degeneration-Tau
Abstract: Tau P301S transgenic mice (PS19 line) are used as a model of frontotemporal lobar degeneration (FTLD)-tau. Behavioral alterations in these mice begin at approximately 4 months of age. We analyzed molecular changes related to disease progression in these mice. Hyperphosphorylated 4Rtau increased in neurons from 1 month of age in entorhinal and piriform cortices to the neocortex and other regions. A small percentage of neurons developed an abnormal tau conformation, tau truncation, and ubiquitination only at 9/10 months of age. Astrocytosis, microgliosis, and increased inflammatory cytokine and immune mediator expr...
Source: Journal of Neuropathology and Experimental Neurology - September 17, 2015 Category: Neurology Tags: Original Articles Source Type: research
High-Resolution Genomic Analysis of Cribriform Neuroepithelial Tumors of the Central Nervous System
In this study, we investigated the molecular features of 3 cases of CRINET using multiplex ligation-dependent probe amplification and molecular inversion profiling approaches. Along with mutations and deletions of SMARCB1-INI1, molecular inversion profiling analysis revealed a stable genomic profile without significant large chromosomal changes. Focal alterations (gains) were observed in individual cases at chromosomes 4q12 (PDGFRA), 12q15 (MDM2), 7p15.1 (NPY), and 18q11.2 (CDH2). Genomic Identification of Significant Targets in Cancer analysis highlighted focal alterations, including gains at chromosomes 16q23.2 (MAF), 17...
Source: Journal of Neuropathology and Experimental Neurology - September 17, 2015 Category: Neurology Tags: Original Articles Source Type: research
Primary Meningeal Pleomorphic Xanthoastrocytoma With Anaplastic Features: A Report of 2 Cases, One With BRAFV600E Mutation and Clinical Response to the BRAF Inhibitor Dabrafenib
We present 2 clinically aggressive cases of primary meningeal pleomorphic xanthoastrocytoma that clinically mimicked meningioma. One case presented in the posterior fossa of a 56-year-old woman; the other centered on the left operculum of a 35-year-old woman. These cases showed many of the classic features of pleomorphic xanthoastrocytoma, except that xanthomatous cells were rare and eosinophilic granular bodies were inconspicuous. Both cases exhibited high proliferative indices and superficially invaded the brain. One case harboring a BRAFV600E mutation disseminated to the thecal sac and showed a clinical response to the ...
Source: Journal of Neuropathology and Experimental Neurology - September 17, 2015 Category: Neurology Tags: Original Articles Source Type: research
Alterations in the NF2/LATS1/LATS2/YAP Pathway in Schwannomas
Abstract: Schwannomas are benign nerve sheath tumors composed of well-differentiated Schwann cells. Other than frequent NF2 (neurofibromatosis type 2) mutations (50%–60%), their molecular pathogenesis is not fully understood. LATS1 and LATS2 are downstream molecules of NF2 and are negative regulators of the yes-associated protein (YAP) oncogene in the Hippo signaling pathway. We assessed mutations of the NF2, LATS1, and LATS2 genes, promoter methylation of LATS1 and LATS2, and expression of YAP and phosphorylated YAP in 82 cases of sporadic schwannomas. Targeted sequencing using the Ion Torrent Proton instrument revealed...
Source: Journal of Neuropathology and Experimental Neurology - September 17, 2015 Category: Neurology Tags: Original Articles Source Type: research
Prominent Vascular and Perivascular Eosinophilic Infiltrates Heralding CNS Mycosis Fungoides
This study reports a patient with known cutaneous MF (under treatment) who presented with a CNS syndrome and multiple brain lesions. Brain biopsy demonstrated massive eosinophilic infiltrates but no MF cells. Despite treatment, new lesions developed and the patient died. At autopsy, there was massive involvement MF cells, suggesting that the eosinophilic infiltrates presaged the severe involvement of the CNS by MF. (Source: Journal of Neuropathology and Experimental Neurology)
Source: Journal of Neuropathology and Experimental Neurology - September 17, 2015 Category: Neurology Tags: Brief Report Source Type: research
In This Issue
No abstract available (Source: Journal of Neuropathology and Experimental Neurology)
Source: Journal of Neuropathology and Experimental Neurology - September 17, 2015 Category: Neurology Tags: In This Issue Source Type: research
FUS/TLS-Immunoreactive Neuronal and Glial Cell Inclusions Increase With Disease Duration in Familial Amyotrophic Lateral Sclerosis With an R521C FUS/TLS Mutation: Erratum
No abstract available (Source: Journal of Neuropathology and Experimental Neurology)
Source: Journal of Neuropathology and Experimental Neurology - August 21, 2015 Category: Neurology Tags: Errata Source Type: research
American Association of Neuropathologists, Inc., Abstracts of the 91st Annual Meeting, June 11–14, 2015, Denver, CO: Erratum
No abstract available (Source: Journal of Neuropathology and Experimental Neurology)
Source: Journal of Neuropathology and Experimental Neurology - August 21, 2015 Category: Neurology Tags: Errata Source Type: research
Gleb N. Budzilovich, MD
No abstract available (Source: Journal of Neuropathology and Experimental Neurology)
Source: Journal of Neuropathology and Experimental Neurology - August 21, 2015 Category: Neurology Tags: In Memoriam Source Type: research
