5,160 results match your criteria Journal of neuropathology and experimental neurology[Journal]


Multifocal Necrotizing Leukoencephalopathy: Expanding the Clinicopathologic Spectrum.

J Neuropathol Exp Neurol 2019 Feb 7. Epub 2019 Feb 7.

Department of Pathology, Medical College of Georgia at Augusta University, Augusta, Georgia.

Multifocal necrotizing leukoencephalopathy (MNL) is a rare condition typically described in patients undergoing chemotherapy or with HIV/AIDS. As a pathologic entity, it is characterized by multiple small foci of necrosis typically within white matter of the pons and occasionally in other areas. Herein we describe findings in 6 patients with MNL, 5 diagnosed at postmortem examination and 1 by surgical biopsy. Read More

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http://dx.doi.org/10.1093/jnen/nlz003DOI Listing
February 2019

Morphology and Distribution of TDP-43 Pre-inclusions in Primary Progressive Aphasia.

J Neuropathol Exp Neurol 2019 Feb 8. Epub 2019 Feb 8.

Feinberg School of Medicine, Mesulam Center for Cognitive Neurology and Alzheimer's Disease, Northwestern University, Chicago, Illinois.

Diffusely stained phosphorylated 43-kDa TAR DNA-binding protein (TDP-43)-positive "pre-inclusions" have been described. This experiment investigated morphological subtypes of pre-inclusions and their relationship with TDP-43 inclusions in primary progressive aphasia (PPA), a dementia characterized by gradual dissolution of language. Brain sections from 5 PPA participants with postmortem diagnoses of frontotemporal lobar degeneration with TDP-43 pathology (FTLD-TDP) were immunohistochemically stained using an antibody to phosphorylated TDP-43 and quantitatively examined for regional and hemispheric distribution using unbiased stereology. Read More

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http://dx.doi.org/10.1093/jnen/nlz005DOI Listing
February 2019
2 Reads

27-Hydroxycholesterol Alters Synaptic Structural and Functional Plasticity in Hippocampal Neuronal Cultures.

J Neuropathol Exp Neurol 2019 Feb 11. Epub 2019 Feb 11.

School of Public Health, Capital Medical University, Beijing, China.

This study aimed to explore the neurotoxic effects of 27-hydroxycholesterol (27-OHC), a major circulating cholesterol active derivative in brain on synaptic structural and functional plasticity in primary hippocampal neurons. Newborn SD rat primary hippocampal neurons were treated with 0, 1, 3, 10, and 30 μM 27-OHC for 24 hours. MTT and CCK-8 assays were used to monitor the cell viability of neurons with different treatments. Read More

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http://dx.doi.org/10.1093/jnen/nlz002DOI Listing
February 2019
1 Read

What Every Neuropathologist Needs to Know: Neuropathology and the US Legal System.

J Neuropathol Exp Neurol 2019 Feb 8. Epub 2019 Feb 8.

Department of Laboratory Medicine and Pathology, Mayo Clinic, Rochester, Minnesota.

The legal system of the United States is complex, with nuances that are particular to its many jurisdictions. The neuropathologist may professionally interact with the legal system in both criminal and civil proceedings as either a fact or expert witness, and in rare instances as a defendant. The nature of the legal issue at hand will define the pathologist's role and determine what actions are required or requested. Read More

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http://dx.doi.org/10.1093/jnen/nly131DOI Listing
February 2019

A Review of Neuropathological Features of Familial and Adult Hemophagocytic Lymphohistiocytosis.

J Neuropathol Exp Neurol 2019 Jan 14. Epub 2019 Jan 14.

Department of Pathology, University of Colorado School of Medicine, Aurora, Colorado.

Hemophagocytic lymphohistiocytosis (HLH) is a hematological disorder that can be due to genetic (primary HLH) causes or excessive activation of the immune system in association with infection, malignancy, rheumatologic disorders, or immune suppression (secondary HLH). Hemophagocytic lymphohistiocytosis remains an under-recognized condition among neuropathologists, especially the secondary forms, where it may be diagnosed only at brain biopsy or autopsy due to confounding comorbidities. The CNS is frequently affected, but neuropathological features are underappreciated. Read More

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https://academic.oup.com/jnen/advance-article/doi/10.1093/jn
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http://dx.doi.org/10.1093/jnen/nlz001DOI Listing
January 2019
3 Reads

Severe Neonatal RYR1 Myopathy With Pathological Features of Congenital Muscular Dystrophy.

J Neuropathol Exp Neurol 2019 Feb 4. Epub 2019 Feb 4.

Department of Pathology and Laboratory Medicine, Medical College of Wisconsin, Milwaukee, Wisconsin.

The phenotypes associated with pathogenic variants in the ryanodine receptor 1 gene (RYR1, OMIM# 180901) have greatly expanded over the last few decades as genetic testing for RYR1 variants has become more common. Initially described in association with malignant hyperthermia, pathogenic variants in RYR1 are typically associated with core pathology in muscle biopsies (central core disease or multiminicore disease) and symptomatic myopathies with symptoms ranging from mild weakness to perinatal lethality. We describe a 2-week-old male patient with multiple congenital dysmorphisms, severe perinatal weakness, and subsequent demise, whose histopathology on autopsy was consistent with congenital muscular dystrophy. Read More

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http://dx.doi.org/10.1093/jnen/nlz004DOI Listing
February 2019

Downregulation of LncRNA TUG1 Inhibited TLR4 Signaling Pathway-Mediated Inflammatory Damage After Spinal Cord Ischemia Reperfusion in Rats via Suppressing TRIL Expression.

J Neuropathol Exp Neurol 2019 Feb 1. Epub 2019 Feb 1.

Department of Anesthesiology, First Hospital of China Medical University, Shenyang, Liaoning, China.

Toll-like receptor 4 (TLR4) and TLR4 interactor with leucine-rich repeats (TRIL) play a crucial role in the inflammatory response. This study investigated the role of long noncoding RNA taurine-upregulated gene 1 (lncRNA TUG1) in TRIL/TLR4 signaling in spinal cord ischemia reperfusion (IR) injury. IR injury was induced in experimental rats; knockdown of TUG1 and TRIL was induced by intrathecal injection of siRNAs and overexpression of TRIL was induced by pcDNA3. Read More

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http://dx.doi.org/10.1093/jnen/nly126DOI Listing
February 2019

Differences in Cognitive Impairment in Primary Age-Related Tauopathy Versus Alzheimer Disease.

J Neuropathol Exp Neurol 2019 Feb 1. Epub 2019 Feb 1.

Department of Pathology, Fishberg Department of Neuroscience, Friedman Brain Institute, Ronald M. Loeb Center for Alzheimer's Disease, Icahn School of Medicine at Mount Sinai, New York, New York.

This study examined differences in neuropsychological test scores between individuals with primary age-related tauopathy (PART) and Alzheimer disease (AD) using cross-sectional data from the National Alzheimer's Coordinating Center. Linear regression tested for differences in 4 cognitive domains stratified by cognitive status (global Clinical Dementia Rating [CDR]). The sample included 240 participants with no neuritic plaques (NP) (definite PART), 186 with sparse NP (possible PART), and 510 with moderate/frequent NP (AD). Read More

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http://dx.doi.org/10.1093/jnen/nly132DOI Listing
February 2019
1 Read

Integrating a Large Next-Generation Sequencing Panel into the Clinical Diagnosis of Gliomas Provides a Comprehensive Platform for Classification from FFPE Tissue or Smear Preparations.

J Neuropathol Exp Neurol 2019 Jan 28. Epub 2019 Jan 28.

Department of Pathology, The University of Chicago, Chicago, Illinois.

The 2016 WHO classification of brain tumors represents a major step towards the integration of molecular data into pathologic diagnoses. Our institution has included massively parallel sequencing technology in the diagnostic work-up of all gliomas since January 2016. The utilized platform successfully identifies copy number variations, individual gene mutations, small insertions and deletions, and selected gene fusions. Read More

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http://dx.doi.org/10.1093/jnen/nly130DOI Listing
January 2019

Prognostic Characterization of Higher-Grade Meningiomas: A Histopathological Score to Predict Progression and Outcome.

J Neuropathol Exp Neurol 2019 Jan 25. Epub 2019 Jan 25.

Pathology Unit, Department of Medical Sciences, University of Turin, Torino, Italy.

Higher-grade meningiomas (WHO grade II and III) represent a diagnostic and prognostic challenge. We assessed the pathological and molecular characteristics of 94 higher-grade meningiomas (85 grade II, 9 grade III) to identify novel prognostic parameters. Higher mitotic count (p = 0. Read More

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http://dx.doi.org/10.1093/jnen/nly127DOI Listing
January 2019

Increased ISGylation in Cases of TBI-Exposed ALS Veterans.

J Neuropathol Exp Neurol 2018 Dec 28. Epub 2018 Dec 28.

Department of Biochemistry and Molecular Biology, LSUHSC-School of Medicine, New Orleans, Louisiana.

Veterans who have served in the military are at a nearly 60% greater risk of being diagnosed with amyotrophic lateral sclerosis (ALS). Literature reports suggest that a history of traumatic brain injury (TBI) may be a risk factor for ALS in veterans. However, no diagnostic biomarkers are available for identifying ALS risk/development in TBI-exposed veterans. Read More

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https://academic.oup.com/jnen/advance-article/doi/10.1093/jn
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http://dx.doi.org/10.1093/jnen/nly129DOI Listing
December 2018
5 Reads

Age-Related Changes of the Neurovascular Unit in the Cerebral Cortex of Alzheimer Disease Mouse Models: A Neuroanatomical and Molecular Study.

J Neuropathol Exp Neurol 2019 Feb;78(2):101-112

Department of Veterinary Medical Sciences (DIMEVET), University of Bologna, Bologna, Italy.

We describe age-related histological structure and molecular changes of the neurovascular unit (NVU) in the cerebral cortex of Tg2576 and age-matched wild-type (WT) mice. Major results can be summarized as follows: (i) β-amyloid (6E10)-immunoreactivity progressively increases in neurons and astrocytes of Tg2576 mice, reaching the highest concentration at 5 months and then decreasing as soon as extracellular plaque deposition begins; (ii) the synaptic puncta density of glutamatergic and GABAergic neurons in Tg2576 mice is unbalanced versus WT at all investigated ages, with a decrease in synaptophysin and VGLUT1; density of VGAT contacts is higher in 27-month-old Tg2576 versus WT mice; (iii) capillary density is higher in 5-month-old Tg2576 versus WT mice, then decreases to a lower density at 27 months, when the capillary-astrocyte interface is lower; and (iv) mRNA expression of genes involved in microvessel dynamics indicates age- and genotype-dependent changes in the expression levels of hypoxia-related genes, i.e. Read More

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http://dx.doi.org/10.1093/jnen/nly125DOI Listing
February 2019
8 Reads

TAZ Expression on Endothelial Cells Is Closely Related to Blood Vascular Density and VEGFR2 Expression in Astrocytomas.

J Neuropathol Exp Neurol 2019 Feb;78(2):172-180

Department of Pathology, Basic Medical Sciences, Fudan University.

Significant angiogenesis is one of the malignant features in astrocytomas. Cotransfactor Yes-associated protein/transcriptional coactivator with PDZ-binding motif (YAP/TAZ) is a major regulator of embryonic angiogenesis, in which it plays an essential role in vascular tip cell migration, blood vessel formation, and vascular barrier maturation. We quantified TAZ expression on blood vessels and parenchyma of astrocytomas of varying malignancy to investigate its role in tumor angiogenesis. Read More

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http://dx.doi.org/10.1093/jnen/nly122DOI Listing
February 2019
3 Reads

Selective Vulnerability of Basal Ganglia: Insights into the Mechanisms of Bilateral Striatal Necrosis.

J Neuropathol Exp Neurol 2019 Feb;78(2):123-129

Division of Human Anatomy - Neuronal Networks Morphology Lab, Department of Mental, Physical Health and Preventive Medicine, University of Campania "Luigi Vanvitelli".

Selective neuronal death in neurodegenerative disorders represents the final step of a cascade of events, including neuroinflammation, regional-specific reactive gliosis, changes of brain-blood barrier structure and functions, metabolic failure and mitochondrial energy impairment. Bilateral striatal necrosis is usually reported in inherited mitochondrial disorders, suggesting a pathogenetic role of the energy impairment by mitochondrial dysfunction. We investigated mechanisms of the selective striatal degeneration, comparing clinical findings of a patient with an acquired bilateral striatal necrosis and experimental data of a selective basal ganglia degenerative model in rats. Read More

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http://dx.doi.org/10.1093/jnen/nly123DOI Listing
February 2019
1 Read

Multiple Sclerosis: Destruction and Regeneration of Astrocytes in Acute Lesions.

J Neuropathol Exp Neurol 2019 Feb;78(2):140-156

Department of Medicine, The University of Sydney, Camperdown, NSW, Australia.

There are reports that astrocyte perivascular endfeet are damaged in some cases of multiple sclerosis (MS). This study was designed to determine the origin and outcome of astrocyte damage in acute, resolving, and inactive plaques. Ten acute plaques from 10 early MS cases and 14 plaques of differing histological age from 9 subacute and chronic cases were examined immunohistochemically. Read More

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http://dx.doi.org/10.1093/jnen/nly121DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC6330170PMC
February 2019

Myostatin Inhibition Using ActRIIB-mFc Does Not Produce Weight Gain or Strength in the Nebulin Conditional KO Mouse.

J Neuropathol Exp Neurol 2019 Feb;78(2):130-139

Division of Pediatric Pathology, Department of Pathology and Laboratory Medicine.

Mutations in at least 12 genes are responsible for a group of congenital skeletal muscle diseases known as nemaline myopathies (NMs). NMs are associated with a range of clinical symptoms and pathological changes often including the presence of cytoplasmic rod-like structures (nemaline bodies) and myofiber hypotrophy. Our recent work has identified a variable degree of behavioral benefit when treating 2 NM mouse models due to mutations in Acta1 with myostatin inhibition. Read More

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http://dx.doi.org/10.1093/jnen/nly120DOI Listing
February 2019

Neuroprotective Effects of Gabapentin Against Cerebral Ischemia Reperfusion-Induced Neuronal Autophagic Injury via Regulation of the PI3K/Akt/mTOR Signaling Pathways.

J Neuropathol Exp Neurol 2019 Feb;78(2):157-171

Jiangsu Key Laboratory of Integrated Traditional Chinese and Western Medicine for Prevention and Treatment of Senile Diseases, Medical college of Yangzhou University.

Gabapentin (GBP), an analgesic, adjunct antiepileptic, and migraine prophylactic drug, reduces neuronal injury induced by cerebral ischemia reperfusion (IR). However, the underlying biological molecular mechanism of GBP neuroprotection is not clear. In this study, we confirmed that dose-dependent (75 and 150 mg/kg) GBP treatment could significantly reduce IR-induced neuronal death. Read More

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http://dx.doi.org/10.1093/jnen/nly119DOI Listing
February 2019
3 Reads

The cGMP-Degrading Enzyme Phosphodiesterase-5 (PDE5) in Cerebral Small Arteries of Older People.

J Neuropathol Exp Neurol 2019 Feb;78(2):191-194

Molecular and Clinical Sciences Research Institute, St. Georges University of London, London, United Kingdom.

Cerebral small vessel disease in deep penetrating arteries is a major cause of lacunar infarcts, white matter lesions and vascular cognitive impairment. Local cerebral blood flow in these small vessels is controlled by endothelial-derived nitric oxide, which exerts a primary vasodilator stimulus on vascular myocytes, via cytoplasmic cyclic GMP. Here, we investigated whether the cGMP-degrading enzyme phosphodiesterase-5 (PDE5) is present in small penetrating arteries in the deep subcortical white matter of older people. Read More

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https://academic.oup.com/jnen/advance-article/doi/10.1093/jn
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http://dx.doi.org/10.1093/jnen/nly117DOI Listing
February 2019
6 Reads

A Quantitative Study of Empty Baskets in Essential Tremor and Other Motor Neurodegenerative Diseases.

J Neuropathol Exp Neurol 2019 Feb;78(2):113-122

Department of Chronic Disease Epidemiology, Yale School of Public Health, Yale University, New Haven, Connecticut; New York, New York; Albany, New York.

The underlying biology of essential tremor (ET) is poorly understood. Purkinje cell (PC) loss has been observed in some studies, although this finding remains somewhat controversial. Basket cells are interneurons whose axonal collaterals form a plexus around PC soma. Read More

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http://dx.doi.org/10.1093/jnen/nly114DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC6330169PMC
February 2019
1 Read

Intraventricular Pilocytic Astrocytoma With KIAA1549/BRAF Fusion Arising in a 44-Year Old.

J Neuropathol Exp Neurol 2019 Feb;78(2):187-190

Department of Pathology, Duke University, Durham, North Carolina.

Rare pilocytic astrocytomas (PA) have been described to arise in the ventricles of children. They are even less common in this location for the adult population. We present the case of a 44-year old man presenting with vision and mental status changes. Read More

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http://dx.doi.org/10.1093/jnen/nly116DOI Listing
February 2019
1 Read

Retinal Vasculopathy With Cerebral Leukodystrophy: Clinicopathologic Features of an Autopsied Patient With a Heterozygous TREX 1 Mutation.

J Neuropathol Exp Neurol 2019 Feb;78(2):181-186

Departments of Pathology.

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, but translocates into the nucleus in response to oxidative DNA damage. It has been speculated that aberrant localization of the protein may be associated with systemic microangiopathy in patients with RVCL. Read More

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http://dx.doi.org/10.1093/jnen/nly115DOI Listing
February 2019

Spinal Pleomorphic Xanthoastrocytoma With a QKI-RAF1 Fusion.

J Neuropathol Exp Neurol 2019 Jan;78(1):10-14

Department of Pathology.

Pleomorphic xanthoastrocytoma (PXA) is a slow-growing neoplasm that predominantly affects the pediatric and young adult population. This neoplasm has a good prognosis, with a median 10-year survival rate of 70%. The majority of tumors are supratentorial and arise in the temporal lobe, while spinal tumors are extremely rare, with only 8 reported cases. Read More

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https://academic.oup.com/jnen/advance-article/doi/10.1093/jn
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http://dx.doi.org/10.1093/jnen/nly112DOI Listing
January 2019
13 Reads

Noninvasive, Targeted Creation of Neuromyelitis Optica Pathology in AQP4-IgG Seropositive Rats by Pulsed Focused Ultrasound.

J Neuropathol Exp Neurol 2019 Jan;78(1):47-56

Department of Medicine and Physiology.

Neuromyelitis optica spectrum disorders (herein called NMO) is an autoimmune disease of the CNS characterized by astrocyte injury, inflammation, and demyelination. In seropositive NMO, immunoglobulin G autoantibodies against aquaporin-4 (AQP4-IgG) cause primary astrocyte injury. A passive transfer model of NMO was developed in which spatially targeted access of AQP4-IgG into the CNS of seropositive rats was accomplished by pulsed focused ultrasound through intact skin. Read More

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http://dx.doi.org/10.1093/jnen/nly107DOI Listing
January 2019
2 Reads

MGMT: Immunohistochemical Detection in High-Grade Astrocytomas.

J Neuropathol Exp Neurol 2019 Jan;78(1):57-64

The Preston Robert Tisch Brain Tumor Center, Duke University Medical Center, Durham, NC, USA.

Glioma therapeutic resistance to alkylating chemotherapy is mediated via O6-methylguanine-DNA methyltransferase (MGMT). We hypothesized that a CD45/HAM56/MGMT double-stained cocktail would improve MGMT discrimination in tumor cells versus inflammatory and endothelial cells (IEC). Total MGMT protein was quantified by IHC on 982 glioblastomas (GBM) and 199 anaplastic astrocytomas. Read More

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http://dx.doi.org/10.1093/jnen/nly110DOI Listing
January 2019
8 Reads

Divergent Features of Mitochondrial Deficiencies in LGMD2A Associated With Novel Calpain-3 Mutations.

J Neuropathol Exp Neurol 2019 Jan;78(1):88-98

Neuromuscular Diagnostic Laboratory, Department of Pathology and Laboratory Medicine, American University of Beirut Medical Center, Beirut, Lebanon.

Limb girdle muscular dystrophy type 2A (LGMD2A) is an autosomal recessive disorder characterized by progressive muscle weakness and wasting. LGMD2A is caused by mutations in the calpain-3 gene (CAPN3) that encodes a Ca2+-dependent cysteine protease predominantly expressed in the skeletal muscle. Underlying pathological mechanisms have not yet been fully elucidated. Read More

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http://dx.doi.org/10.1093/jnen/nly113DOI Listing
January 2019
3 Reads
3.797 Impact Factor

SIV-Induced Immune Activation and Metabolic Alterations in the Dorsal Root Ganglia During Acute Infection.

J Neuropathol Exp Neurol 2019 Jan;78(1):78-87

Department of Molecular and Comparative Pathobiology.

Human immunodeficiency virus-associated sensory neuropathy (HIV-SN) remains a frequent neurologic complication of HIV infection. Little is known about alterations in the peripheral nervous system during the early stages of HIV, a time when neuroprotective interventions may be most beneficial. We performed Nanostring gene expression analysis on lumbar dorsal root ganglia (DRG) from 6 simian immunodeficiency virus (SIV)-infected pigtailed macaques killed at 7 days post-inoculation and 8 uninfected controls. Read More

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http://dx.doi.org/10.1093/jnen/nly111DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC6289222PMC
January 2019

Combined Adipose-Derived Mesenchymal Stem Cells and Low-Energy Extracorporeal Shock Wave Therapy Protect the Brain From Brain Death-Induced Injury in Rat.

J Neuropathol Exp Neurol 2019 Jan;78(1):65-77

Center for Shockwave Medicine and Tissue Engineering, Kaohsiung Chang Gung Memorial Hospital, Kaohsiung, Taiwan.

This study tested the hypothesis that combined adipose-derived mesenchymal stem cell (ADMSC) and low-energy extracorporeal shock wave (ECSW) therapy could protect brain from brain death (BD)-induced injury. Adult male Sprague Dawley rats were categorized into group 1 (sham control), group 2 (BD), group 3 (BD + ECSW [0.15 mJ/mm2/300 impulses] applied to the skull surface 3 hours after BD induction), group 4 (BD + ADMSC [1. Read More

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http://dx.doi.org/10.1093/jnen/nly108DOI Listing
January 2019
8 Reads

Sarcolemmal Complement Membrane Attack Complex Deposits During Acute Rejection of Myofibers in Nonhuman Primates.

J Neuropathol Exp Neurol 2019 Jan;78(1):38-46

Axe Neurosciences, Research Center of the CHU de Quebec - CHUL, Quebec, Canada.

We have previously studied in nonhuman primates several aspects of the acute rejection of myofibers, including the histological characteristics, the mechanisms of myofiber elimination by the T cells, and the development of anti-donor antibodies. Here, we report the participation of the complement membrane attack complex (MAC) in this context. We used muscle sections of macaques from experiments of allogeneic muscle precursor cell transplantation with confirmed rejection of the graft-derived myofibers. Read More

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http://dx.doi.org/10.1093/jnen/nly106DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC6289216PMC
January 2019
1 Read
3.797 Impact Factor

Quantitative Assessment of Pathological Tau Burden in Essential Tremor: A Postmortem Study.

J Neuropathol Exp Neurol 2019 Jan;78(1):31-37

Department of Pathology.

Essential tremor (ET) patients develop more cognitive impairment and dementia than controls, although there are surprisingly few data on the neuropathological basis for cognitive changes in ET. In this postmortem study, we assessed tau and other pathologies in 26 ET cases and 73 controls (non-ET) (1:3 matching). The mean age = 88. Read More

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https://academic.oup.com/jnen/advance-article/doi/10.1093/jn
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http://dx.doi.org/10.1093/jnen/nly104DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC6289218PMC
January 2019
8 Reads

Severe TUBB4A-Related Hypomyelination With Atrophy of the Basal Ganglia and Cerebellum: Novel Neuropathological Findings.

J Neuropathol Exp Neurol 2019 Jan;78(1):3-9

Division of Pediatric Neurology, Children's Hospital of Eastern Ontario, Ottawa, Ontario Canada.

Hypomyelination with atrophy of the basal ganglia and cerebellum (H-ABC) is a rare hypomyelinating leukodystrophy characterized by infantile or childhood onset of motor developmental delay, progressive rigidity and spasticity, with hypomyelination and progressive atrophy of the basal ganglia and cerebellum due to a genetic mutation of the TUBB4A gene. It has only been recognized since 2002 and the full spectrum of the disorder is still being delineated. Here, we review a case report of a severely affected girl with a thorough neuropathological evaluation demonstrating novel clinical and pathological findings. Read More

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http://dx.doi.org/10.1093/jnen/nly105DOI Listing
January 2019
10 Reads
3.797 Impact Factor

Subchronic Pathobiological Response Following Chronic Repetitive Mild Traumatic Brain Injury in an Aged Preclinical Model of Amyloid Pathogenesis.

J Neuropathol Exp Neurol 2018 Dec;77(12):1144-1162

Experimental Neuropathology and TBI Research Division, Roskamp Institute, Sarasota, Florida.

Repetitive mild traumatic brain injury (r-mTBI) is a risk factor for Alzheimer disease (AD). The precise nature of how r-mTBI leads to, or precipitates, AD pathogenesis remains unclear. In this study, we explore subchronic effects of chronic r-mTBI (12-impacts) administered over 1-month in aged-PS1/APP mice and littermate controls. Read More

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https://academic.oup.com/jnen/advance-article/doi/10.1093/jn
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http://dx.doi.org/10.1093/jnen/nly101DOI Listing
December 2018
11 Reads

Lactate Deficit in an Alzheimer Disease Mouse Model: The Relationship With Neuronal Damage.

J Neuropathol Exp Neurol 2018 Dec;77(12):1163-1176

Department of Physiology, Army Medical University (Third Military Medical University), Chongqing, China.

Cerebral energy metabolism in Alzheimer disease (AD) has recently been given increasing attention. This study focuses on the alterations of cerebral lactate metabolism in the double-transgenic amyloid precursor protein/presenilin 1 (APP/PS1) mouse model of AD. Immunofluorescence staining and Western blotting analysis were used to identify the alterations of lactate content and lactate transporters (MCT1, MCT2, MCT4) in APP/PS1 mouse brains, which display amyloid beta plaques, reduced amounts of neurons and oligodendrocytes, and increased quantity of astrocytes. Read More

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http://dx.doi.org/10.1093/jnen/nly102DOI Listing
December 2018
3 Reads

Loss of Sarcomeric Scaffolding as a Common Baseline Histopathologic Lesion in Titin-Related Myopathies.

J Neuropathol Exp Neurol 2018 Dec;77(12):1101-1114

Neuromuscular Morphology Unit, Myology Institute, GHU Pitié-Salpêtrière, Paris, France.

Titin-related myopathies are heterogeneous clinical conditions associated with mutations in TTN. To define their histopathologic boundaries and try to overcome the difficulty in assessing the pathogenic role of TTN variants, we performed a thorough morphological skeletal muscle analysis including light and electron microscopy in 23 patients with different clinical phenotypes presenting pathogenic autosomal dominant or autosomal recessive (AR) mutations located in different TTN domains. We identified a consistent pattern characterized by diverse defects in oxidative staining with prominent nuclear internalization in congenital phenotypes (AR-CM) (n = 10), ± necrotic/regenerative fibers, associated with endomysial fibrosis and rimmed vacuoles (RVs) in AR early-onset Emery-Dreifuss-like (AR-ED) (n = 4) and AR adult-onset distal myopathies (n = 4), and cytoplasmic bodies (CBs) as predominant finding in hereditary myopathy with early respiratory failure (HMERF) patients (n = 5). Read More

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https://academic.oup.com/jnen/advance-article/doi/10.1093/jn
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http://dx.doi.org/10.1093/jnen/nly095DOI Listing
December 2018
12 Reads

Effect of Fluorinert on the Histological Properties of Formalin-Fixed Human Brain Tissue.

J Neuropathol Exp Neurol 2018 Dec;77(12):1085-1090

Queen Square Brain Bank, UCL Queen Square Institute of Neurology.

Fluorinert (perfluorocarbon) represents an inexpensive option for minimizing susceptibility artifacts in ex vivo brain MRI scanning, and provides an alternative to Fomblin. However, its impact on fixed tissue and histological analysis has not been rigorously and quantitatively validated. In this study, we excised tissue blocks from 2 brain regions (frontal pole and cerebellum) of 5 formalin-fixed specimens (2 progressive supranuclear palsy cases, 3 controls). Read More

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https://academic.oup.com/jnen/advance-article/doi/10.1093/jn
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http://dx.doi.org/10.1093/jnen/nly098DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC6234979PMC
December 2018
10 Reads

A Distinct Metabolite Profile Correlates with Neurodegenerative Conditions and the Severity of Congenital Hydrocephalus.

J Neuropathol Exp Neurol 2018 Dec;77(12):1122-1136

Department of Cell Biology, Genetics, and Physiology, University of Malaga, Malaga, Spain.

In congenital hydrocephalus, cerebrospinal fluid accumulation is associated with increased intracranial pressure (ICP), ischemia/hypoxia, metabolic impairment, neuronal damage, and astrocytic reaction. The aim of this study was to identify whether a metabolite profile revealing tissue responses according to the severity of hydrocephalus can be detected. The hyh mutant mouse used for this study exhibits 2 different forms of hydrocephalus, severe and moderate. Read More

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https://academic.oup.com/jnen/advance-article/doi/10.1093/jn
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http://dx.doi.org/10.1093/jnen/nly097DOI Listing
December 2018
4 Reads

Intraepidermal Nerve Fiber Density in Friedreich's Ataxia.

J Neuropathol Exp Neurol 2018 Dec;77(12):1137-1143

Neurology Department, Innsbruck Medical University, Innsbruck, Austria.

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 further insight in the PNS involvement in FRDA by investigating small nerve fibers in vivo. Read More

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http://dx.doi.org/10.1093/jnen/nly100DOI Listing
December 2018

BRAT1 Mutation: The First Reported Case of Chinese Origin and Review of the Literature.

J Neuropathol Exp Neurol 2018 Dec;77(12):1071-1078

Department of Pediatric Laboratory Medicine.

Lethal neonatal rigidity and multifocal seizure syndrome (RMFSL) (OMIM#614498) is caused by homozygous or compound heterozygous mutation in the BRAT1 gene (OMIM#614506) on chromosome 7p22. We report a newborn female infant born to non-consanguineous Chinese parents who presented with hypertonia, dysmorphic features, progressive encephalopathy with refractory seizures, and worsening episodic apnea, leading to intubation and eventually death at 10 weeks of age. Whole exome sequencing revealed homozygous BRAT1 mutation, c. Read More

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https://academic.oup.com/jnen/advance-article/doi/10.1093/jn
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http://dx.doi.org/10.1093/jnen/nly093DOI Listing
December 2018
12 Reads

Chronic Traumatic Encephalopathy Within an Amyotrophic Lateral Sclerosis Brain Bank Cohort.

J Neuropathol Exp Neurol 2018 Dec;77(12):1091-1100

VA Boston Healthcare System, Boston, Massachusetts.

Chronic traumatic encephalopathy (CTE) is a progressive neurodegenerative disorder linked to repetitive head impacts and has been associated with amyotrophic lateral sclerosis (ALS), a fatal, degenerative neuromuscular disorder. The Department of Veterans Affairs Biorepository Brain Bank (VABBB) is a tissue repository that collects antemortem disease progression data and postmortem central nervous system tissue from veterans with ALS. We set out to determine the frequency of co-morbid ALS and CTE in the VABBB cohort and to characterize the clinical, genetic, and pathological distinctions between participants with ALS only and those with both ALS and CTE (ALS+CTE). Read More

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https://academic.oup.com/jnen/article/77/12/1091/5123933
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http://dx.doi.org/10.1093/jnen/nly092DOI Listing
December 2018
19 Reads

Steroid-Responsive Relapsing-Remitting Neutrophilic Encephalitis: A Case Report.

J Neuropathol Exp Neurol 2018 Nov;77(11):993-996

Department of Neurology, University Hospital Heidelberg, Heidelberg, Germany.

We report a case of a rapidly progressing, relapsing-remitting, steroid-responsive granulocytic encephalitis without any signs of peripheral nervous system or other organ involvement. It apparently had an immune-mediated etiology that could not be attributed to any known disease entity. A 22-year-old man presented with rapidly progressive severe neurological symptoms caused by encephalitis. Read More

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http://dx.doi.org/10.1093/jnen/nly088DOI Listing
November 2018
15 Reads

Fatal Granulomatous Amebic Encephalitis in a Heart Transplant Patient: Clinical, Radiographic, and Autopsy Findings.

J Neuropathol Exp Neurol 2018 Nov;77(11):1001-1004

Department of Pathology, Duke University Medical Center, Durham, North Carolina.

Granulomatous amebic encephalitis is a rare necrotizing infection of the CNS that occurs most commonly in immunocompromised individuals and is usually fatal. It is difficult to diagnose as the clinical symptoms and radiographic findings are often mistaken for other bacterial, viral, fungal, or protozoan infections. Herein, we present the case of a 69-year-old heart transplant recipient who suffered fulminant neurological decline ∼5 months after transplant. Read More

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https://academic.oup.com/jnen/article/77/11/1001/5116241
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http://dx.doi.org/10.1093/jnen/nly089DOI Listing
November 2018
10 Reads

Histopathologic Correlates of Familial Hemophagocytic Lymphohistiocytosis Isolated to the Central Nervous System.

J Neuropathol Exp Neurol 2018 Dec;77(12):1079-1084

Departments of Pathology, Boston Children's Hospital and Brigham and Women's Hospital, Harvard Medical School, Boston, Massachusetts.

Familial hemophagocytic lymphohistiocytosis (HLH) is an immune hyperactivation syndrome caused by mutations in genes associated with cytotoxic T-cell and NK-cell function. While neurological manifestations frequently accompany systemic inflammation at initial presentation, isolated central nervous system (CNS) involvement is rare, and the histological correlates are not well described. We present 3 patients (ages 5, 6, and 7 years) with CNS-isolated familial HLH, who presented with a variety of neurological symptoms and underwent brain biopsies for multifocal enhancing supratentorial and infratentorial lesions. Read More

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http://dx.doi.org/10.1093/jnen/nly094DOI Listing
December 2018
7 Reads

NLRP3 Inflammasome-Related Proteins Are Upregulated in the Putamen of Patients With Multiple System Atrophy.

J Neuropathol Exp Neurol 2018 Nov;77(11):1055-1065

Department of Neurology.

Multiple system atrophy (MSA) is a neurodegenerative disease characterized by parkinsonism, ataxia, and autonomic dysfunction. Microglial infiltration is an important mediator in MSA. The nucleotide-binding domain, leucine-rich repeats-containing family, pyrin domain-containing-3 (NLRP3) inflammasome complex, comprising NLRP3, apoptotic speck protein containing a caspase recruitment domain (ASC), and cysteine aspartic acid protease 1 (Caspase 1), regulates microglial inflammation in several neurodegenerative diseases. Read More

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https://academic.oup.com/jnen/article/77/11/1055/5116244
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http://dx.doi.org/10.1093/jnen/nly090DOI Listing
November 2018
10 Reads
3.800 Impact Factor

Sellar Region Atypical Teratoid/Rhabdoid Tumors in Adults: Clinicopathological Characterization of Five Cases and Review of the Literature.

J Neuropathol Exp Neurol 2018 Dec;77(12):1115-1121

From the Department of Laboratory Medicine and Pathology, Mayo Clinic, Rochester, Minnesota.

Atypical teratoid/rhabdoid tumors (AT/RTs) are highly malignant CNS neoplasms that typically occur in children <2 years of age. These are characterized by high-grade histologic features and mutations of the INI1/SMARCB1 gene readily detected by loss of expression by immunohistochemistry. Among adults, the majority of AT/RTs occurs in the cerebral hemispheres. Read More

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December 2018
14 Reads

AARS2 Compound Heterozygous Variants in a Case of Adult-Onset Leukoencephalopathy With Axonal Spheroids and Pigmented Glia.

J Neuropathol Exp Neurol 2018 Nov;77(11):997-1000

Department of Neurology, Peking University First Hospital, Beijing, China.

Adult-onset leukoencephalopathy with axonal spheroids and pigmented glia (ALSP), usually referred to as hereditary diffuse leukoencephalopathy with spheroids or pigmentary orthochromatic leukodystrophy, is genetically caused by CSF1R mutations. AARS2 was recently confirmed to be another causative gene in a series of CSF1R-negative ALSP cases. We report a case of adult-onset leukoencephalopathy with ALSP with AARS2 variants. Read More

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http://dx.doi.org/10.1093/jnen/nly087DOI Listing
November 2018
6 Reads
3.800 Impact Factor

Galectin-4, a Negative Regulator of Oligodendrocyte Differentiation, Is Persistently Present in Axons and Microglia/Macrophages in Multiple Sclerosis Lesions.

J Neuropathol Exp Neurol 2018 Nov;77(11):1024-1038

Department of Cell Biology, University of Groningen, University Medical Center Groningen, Groningen, The Netherlands.

Neuron-derived molecules are potent regulators of oligodendrocyte differentiation and myelination during brain development and upon demyelination. Their analysis will thus contribute to understanding remyelination failure in demyelinating diseases, such as multiple sclerosis (MS). Previously, we have identified neuronal galectin-4 as a novel negative soluble regulator in the timing of developmental myelination. Read More

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https://academic.oup.com/jnen/article/77/11/1024/5106286
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http://dx.doi.org/10.1093/jnen/nly081DOI Listing
November 2018
16 Reads

A Revised Diagnostic Classification of Canine Glioma: Towards Validation of the Canine Glioma Patient as a Naturally Occurring Preclinical Model for Human Glioma.

J Neuropathol Exp Neurol 2018 Nov;77(11):1039-1054

National Cancer Institute, National Institutes of Health, Comparative Oncology Program, Center for Cancer Research, Bethesda, Maryland.

The National Cancer Institute-led multidisciplinary Comparative Brain Tumor Consortium (CBTC) convened a glioma pathology board, comprising both veterinarian and physician neuropathologists, and conducted a comprehensive review of 193 cases of canine glioma. The immediate goal was to improve existing glioma classification methods through creation of a histologic atlas of features, thus yielding greater harmonization of phenotypic characterization. The long-term goal was to support future incorporation of clinical outcomes and genomic data into proposed simplified diagnostic schema, so as to further bridge the worlds of veterinary and physician neuropathology and strengthen validity of the dog as a naturally occurring, translationally relevant animal model of human glioma. Read More

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http://dx.doi.org/10.1093/jnen/nly085DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC6181180PMC
November 2018
11 Reads

Clinicopathologic Features of Two Patients With Sporadic Amyotrophic Lateral Sclerosis Who Maintained Communication Ability for Over 30 Years.

J Neuropathol Exp Neurol 2018 Nov;77(11):981-986

Departments of Pathology.

We report the clinicopathologic features of 2 unrelated patients with sporadic amyotrophic lateral sclerosis (SALS) supported by tracheostomy and invasive ventilation (TIV) who were able to maintain communication ability for more than 30 years after disease onset. In both cases, the age at onset was younger than the mean, initially the progression of muscle weakness was consistent with that in the majority of SALS patients, and TIV became necessary several years after disease onset. Thereafter, however, their neurologic deterioration slowed and the patients were able to operate computers by facial movements for several decades. Read More

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http://dx.doi.org/10.1093/jnen/nly082DOI Listing
November 2018
9 Reads

Pathological Relationship Between Adamantinomatous Craniopharyngioma and Adjacent Structures Based on QST Classification.

J Neuropathol Exp Neurol 2018 Nov;77(11):1017-1023

Department of Neurosurgery, Nanfang Hospital of Southern Medical University, Guangzhou, China.

The aim of this study was to clarify pathological and anatomical relationships between adamantinomatous craniopharyngiomas (ACP) and their surrounding structures. We previously established a QST classification scheme based on the apparent anatomic origin of the tumors. According to this classification, 13 type Q tumors, 6 type S tumors, and 42 type T ACPs were analyzed. Read More

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http://dx.doi.org/10.1093/jnen/nly083DOI Listing
November 2018
13 Reads

Acute Sarcomeric M-Line Disease Associated With ATP Synthase Subunit α Autoantibodies in Ankylosing Spondylitis.

J Neuropathol Exp Neurol 2018 Nov;77(11):987-992

Section of Clinical Neurology, Department of Neurosciences, Biomedicine and Movement Sciences.

M-line is the narrow transverse band located in the center of the sarcomeric A-band that is mainly responsible for the stabilization of myosin thick filaments. A 27-year-old male patient with a positive medical history for ankylosing spondylitis presented with one month of proximal upper limb muscle weakness associated with pain on both acromioclavicular joints. A biopsy of deltoid muscle documented the disappearance of M-line, the misalignment of myofilaments, and the loss of the distinction between the A and I bands. Read More

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http://dx.doi.org/10.1093/jnen/nly079DOI Listing
November 2018
7 Reads