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https://www.readbyqxmd.com/read/28324300/%C3%AE-synuclein-and-parkinsonism-updates-and-future-perspectives
#1
REVIEW
Kaie Rosborough, Neha Patel, Lorraine V Kalia
Mutations in the SNCA gene, which encodes the α-synuclein protein, were the first discovered genetic causes of familial parkinsonism with Lewy pathology. To date, six different SNCA missense mutations as well as multiplications are known to cause parkinsonism. For this review, we performed a literature search to identify all published cases of SNCA-related parkinsonism to provide an updated summary of the clinical and neuropathological features of parkinsonism due to SNCA mutations. Familial parkinsonism associated with SNCA is rare, but α-synuclein aggregation is a core feature of sporadic parkinsonism, including Parkinson's disease, dementia with Lewy bodies, and multiple system atrophy...
April 2017: Current Neurology and Neuroscience Reports
https://www.readbyqxmd.com/read/28324299/fatal-familial-insomnia-clinical-aspects-and-molecular-alterations
#2
REVIEW
Franc Llorens, Juan-José Zarranz, Andre Fischer, Inga Zerr, Isidro Ferrer
PURPOSE OF REVIEW: Fatal familiar insomnia (FFI) is an autosomal dominant inherited prion disease caused by D178N mutation in the prion protein gene (PRNP D178N) accompanied by the presence of a methionine at the codon 129 polymorphic site on the mutated allele. FFI is characterized by severe sleep disorder, dysautonomia, motor signs and abnormal behaviour together with primary atrophy of selected thalamic nuclei and inferior olives, and expansion to other brain regions with disease progression...
April 2017: Current Neurology and Neuroscience Reports
https://www.readbyqxmd.com/read/28323831/genetic-assessment-of-age-associated-alzheimer-disease-risk-development-and-validation-of-a-polygenic-hazard-score
#3
Rahul S Desikan, Chun Chieh Fan, Yunpeng Wang, Andrew J Schork, Howard J Cabral, L Adrienne Cupples, Wesley K Thompson, Lilah Besser, Walter A Kukull, Dominic Holland, Chi-Hua Chen, James B Brewer, David S Karow, Karolina Kauppi, Aree Witoelar, Celeste M Karch, Luke W Bonham, Jennifer S Yokoyama, Howard J Rosen, Bruce L Miller, William P Dillon, David M Wilson, Christopher P Hess, Margaret Pericak-Vance, Jonathan L Haines, Lindsay A Farrer, Richard Mayeux, John Hardy, Alison M Goate, Bradley T Hyman, Gerard D Schellenberg, Linda K McEvoy, Ole A Andreassen, Anders M Dale
BACKGROUND: Identifying individuals at risk for developing Alzheimer disease (AD) is of utmost importance. Although genetic studies have identified AD-associated SNPs in APOE and other genes, genetic information has not been integrated into an epidemiological framework for risk prediction. METHODS AND FINDINGS: Using genotype data from 17,008 AD cases and 37,154 controls from the International Genomics of Alzheimer's Project (IGAP Stage 1), we identified AD-associated SNPs (at p < 10-5)...
March 2017: PLoS Medicine
https://www.readbyqxmd.com/read/28323825/association-between-fatty-acid-metabolism-in-the-brain-and-alzheimer-disease-neuropathology-and-cognitive-performance-a-nontargeted-metabolomic-study
#4
Stuart G Snowden, Amera A Ebshiana, Abdul Hye, Yang An, Olga Pletnikova, Richard O'Brien, John Troncoso, Cristina Legido-Quigley, Madhav Thambisetty
BACKGROUND: The metabolic basis of Alzheimer disease (AD) pathology and expression of AD symptoms is poorly understood. Omega-3 and -6 fatty acids have previously been linked to both protective and pathogenic effects in AD. However, to date little is known about how the abundance of these species is affected by differing levels of disease pathology in the brain. METHODS AND FINDINGS: We performed metabolic profiling on brain tissue samples from 43 individuals ranging in age from 57 to 95 y old who were stratified into three groups: AD (N = 14), controls (N = 14) and "asymptomatic Alzheimer's disease" (ASYMAD), i...
March 2017: PLoS Medicine
https://www.readbyqxmd.com/read/28323683/genetic-alzheimer-disease-and-sporadic-dementia-with-lewy-bodies-a-comorbidity-presenting-as-primary-progressive-aphasia
#5
Tereza Picková, Radoslav Matěj, Ondrej Bezdicek, Jiří Keller, Julie van der Zee, Christine Van Broeckhoven, Zsolt Cséfalvay, Robert Rusina
We report a 44-year-old woman, with a family history of early-onset dementia, presenting with primary progressive aphasia. This clinically variable syndrome has multiple underlying pathologies, and correlations between clinical manifestations and postmortem neuropathologic findings are controversial. Our patient suffered worsening language impairment with major word-finding difficulties but preserved comprehension. She also developed episodic memory impairment. Her condition progressed to dementia with behavioral changes...
March 2017: Cognitive and Behavioral Neurology: Official Journal of the Society for Behavioral and Cognitive Neurology
https://www.readbyqxmd.com/read/28320172/neuropathological-findings-from-an-autopsied-case-showing-posterior-reversible-encephalopathy-syndrome-like-neuroradiological-findings-associated-with-premedication-including-tacrolimus-for-autologous-peripheral-blood-stem-cell-transplantation
#6
Yuichi Hayashi, Akio Kimura, Hiroshi Nakamura, Maya Mimuro, Yasushi Iwasaki, Akira Hara, Mari Yoshida, Takashi Inuzuka
Posterior reversible encephalopathy syndrome (PRES) is diagnosed based on neuroradiological findings. Typically, PRES is reversible and presents with a good outcome; however, fatal outcomes have been reported. We report an autopsied case showing PRES-like neuroradiological findings associated with premedication including tacrolimus for autologous peripheral blood stem cell transplantation in a 28-year-old woman with a 2-year history of acute myeloid sarcoma/acute myeloid leukemia. Neurological examination revealed disturbed consciousness, muscle weakness in all extremities, and bilaterally diminished tendon reflexes...
April 15, 2017: Journal of the Neurological Sciences
https://www.readbyqxmd.com/read/28319448/rationale-and-design-of-a-phase-1-clinical-trial-to-evaluate-hsv-g207-alone-or-with-a-single-radiation-dose-in-children-with-progressive-or-recurrent-malignant-supratentorial-brain-tumors
#7
Alicia M Waters, James M Johnston, Alyssa T Reddy, John Fiveash, Avi Madan-Swain, Kara Kachurak, Asim K Bag, G Yancey Gillespie, James M Markert, Gregory K Friedman
Primary central nervous system tumors are the most common solid neoplasm of childhood and the leading cause of cancer-related death in pediatric patients. Survival rates for children with malignant supratentorial brain tumors are poor despite aggressive treatment with combinations of surgery, radiation, and chemotherapy, and survivors often suffer from damaging lifelong sequelae from current therapies. Novel innovative treatments are greatly needed. One promising new approach is the use of a genetically engineered, conditionally replicating herpes simplex virus (HSV) that has shown tumor-specific tropism and potential efficacy in the treatment of malignant brain tumors...
March 2017: Human Gene Therapy. Clinical Development
https://www.readbyqxmd.com/read/28317487/impact-of-cytokines-and-chemokines-on-alzheimer-s-disease-neuropathological-hallmarks
#8
Catarina Domingues, Odete A B da Cruz E Silva, Ana Gabriela Henriques
Alzheimer's disease (AD) is the most common neurodegenerative disorder, neuropathologically characterized by aggregates of β-amyloid peptides, which deposit as senile plaques, and of TAU protein, which forms neurofibrillary tangles. It is now widely accepted that neuroinflammation is implicated in AD pathogenesis. Indeed, inflammatory mediators, such as cytokines and chemokines (chemotactic cytokines) can impact on the Alzheimer´s amyloid precursor protein by affecting its expression levels and amyloidogenic processing and/or β-amyloid aggregation...
March 17, 2017: Current Alzheimer Research
https://www.readbyqxmd.com/read/28317486/abnormal-clock-gene-expression-and-locomotor-activity-rhythms-in-two-month-old-female-appswe-ps1de9-mice
#9
Olaide Oyegbami, Hilary M Collins, Marie C Pardon, Fran Jp Ebling, David M Heery, Paula M Moran
In addition to cognitive decline, Alzheimer's disease (AD) is also characterized by agitation and disruptions in activity and sleep. These symptoms typically occur in the evening or at night and have been referred to as 'sundowning'. These symptoms are especially difficult for carers and there are no specific drug treatments. There is increasing evidence that these symptoms reflect an underlying pathology of circadian rhythm generation and transmission. We investigated whether a transgenic mouse model relevant to AD (APPswe/PS1dE9) exhibits circadian alterations in locomotor activity and expression of clock genes involved in the regulation of the circadian cycle...
March 17, 2017: Current Alzheimer Research
https://www.readbyqxmd.com/read/28315956/axonal-transport-deficits-in-multiple-sclerosis-spiraling-into-the-abyss
#10
REVIEW
Robert van den Berg, Casper C Hoogenraad, Rogier Q Hintzen
The transport of mitochondria and other cellular components along the axonal microtubule cytoskeleton plays an essential role in neuronal survival. Defects in this system have been linked to a large number of neurological disorders. In multiple sclerosis (MS) and associated models such as experimental autoimmune encephalomyelitis (EAE), alterations in axonal transport have been shown to exist before neurodegeneration occurs. Genome-wide association (GWA) studies have linked several motor proteins to MS susceptibility, while neuropathological studies have shown accumulations of proteins and organelles suggestive for transport deficits...
March 18, 2017: Acta Neuropathologica
https://www.readbyqxmd.com/read/28304301/modeling-the-relationships-among-late-life-body-mass-index-cerebrovascular-disease-and-alzheimer-s-disease-neuropathology-in-an-autopsy-sample-of-1-421-subjects-from-the-national-alzheimer-s-coordinating-center-data-set
#11
Michael L Alosco, Jonathan Duskin, Lilah M Besser, Brett Martin, Christine E Chaisson, John Gunstad, Neil W Kowall, Ann C McKee, Robert A Stern, Yorghos Tripodis
The relationship between late-life body mass index (BMI) and Alzheimer's disease (AD) is poorly understood due to the lack of research in samples with autopsy-confirmed AD neuropathology (ADNP). The role of cerebrovascular disease (CVD) in the interplay between late-life BMI and ADNP is unclear. We conducted a retrospective longitudinal investigation and used joint modeling of linear mixed effects to investigate causal relationships among repeated antemortem BMI measurements, CVD (quantified neuropathologically), and ADNP in an autopsy sample of subjects across the AD clinical continuum...
March 13, 2017: Journal of Alzheimer's Disease: JAD
https://www.readbyqxmd.com/read/28303913/multiple-system-atrophy-insights-into-a-rare-and-debilitating-movement-disorder
#12
REVIEW
Florian Krismer, Gregor K Wenning
Multiple system atrophy (MSA) is a devastating and fatal neurodegenerative disorder. The clinical presentation of this disease is highly variable, with parkinsonism, cerebellar ataxia and autonomic failure being the most common - and often debilitating - symptoms. These symptoms progress rapidly, and patients die from MSA-related complications after 9 years of symptom duration on average. Unfortunately, the course of the disease cannot be improved by drug or surgical treatment. In addition, symptomatic treatment options are currently limited, and therapeutic benefits are often only transient...
March 17, 2017: Nature Reviews. Neurology
https://www.readbyqxmd.com/read/28303140/netosis-in-alzheimer-s-disease
#13
REVIEW
Enrica Caterina Pietronigro, Vittorina Della Bianca, Elena Zenaro, Gabriela Constantin
Alzheimer's disease (AD) is a neurodegenerative disorder characterized by the progressive deterioration of cognitive functions. Its neuropathological features include amyloid-β (Aβ) accumulation, the formation of neurofibrillary tangles, and the loss of neurons and synapses. Neuroinflammation is a well-established feature of AD pathogenesis, and a better understanding of its mechanisms could facilitate the development of new therapeutic approaches. Recent studies in transgenic mouse models of AD have shown that neutrophils adhere to blood vessels and migrate inside the parenchyma...
2017: Frontiers in Immunology
https://www.readbyqxmd.com/read/28303016/the-two-century-journey-of-parkinson-disease-research
#14
REVIEW
Serge Przedborski
Since the first formal description of Parkinson disease (PD) two centuries ago, our understanding of this common neurodegenerative disorder has expanded at all levels of description, from the delineation of its clinical phenotype to the identification of its neuropathological features, neurochemical processes and genetic factors. Along the way, findings have led to novel hypotheses about how the disease develops and progresses, challenging our understanding of how neurodegenerative disorders wreak havoc on human health...
March 17, 2017: Nature Reviews. Neuroscience
https://www.readbyqxmd.com/read/28302159/a-data-driven-approach-links-microglia-to-pathology-and-prognosis-in-amyotrophic-lateral-sclerosis
#15
Johnathan Cooper-Knock, Claire Green, Gabriel Altschuler, Wenbin Wei, Joanna J Bury, Paul R Heath, Matthew Wyles, Catherine Gelsthorpe, J Robin Highley, Alejandro Lorente-Pons, Tim Beck, Kathryn Doyle, Karel Otero, Bryan Traynor, Janine Kirby, Pamela J Shaw, Winston Hide
Amyotrophic lateral sclerosis (ALS) is a devastating neurodegenerative disease that lacks a predictive and broadly applicable biomarker. Continued focus on mutation-specific upstream mechanisms has yet to predict disease progression in the clinic. Utilising cellular pathology common to the majority of ALS patients, we implemented an objective transcriptome-driven approach to develop noninvasive prognostic biomarkers for disease progression. Genes expressed in laser captured motor neurons in direct correlation (Spearman rank correlation, p < 0...
March 16, 2017: Acta Neuropathologica Communications
https://www.readbyqxmd.com/read/28299744/a-simple-adaptable-blood-brain-barrier-cell-model-for-screening-matrix-metalloproteinase-inhibitor-functionality
#16
Jennifer S Myers, Joan Hare, Qing-Xiang Amy Sang
The blood-brain barrier is a multicellular and basement membrane unit that regulates molecular transport between the blood and central nervous system. Many cerebral pathologies, such as acute stroke and chronic vascular dementia, result in a disrupted blood-brain barrier, increasing its permeability and allowing the entry of potentially neurotoxic molecules. The activation of matrix metalloproteinases mediates further blood-brain barrier damage. The inhibition of matrix metalloproteinases is a potential strategy for stroke therapy...
2017: Methods in Molecular Biology
https://www.readbyqxmd.com/read/28299641/the-phospholipid-composition-of-the-human-entorhinal-cortex-remains-relatively-stable-over-80%C3%A2-years-of-adult-aging
#17
Sarah E Hancock, Michael G Friedrich, Todd W Mitchell, Roger J W Truscott, Paul L Else
Membrane lipid composition is altered in the brain during the pathogenesis of several age-related neurodegenerative diseases, including Alzheimer's disease. The entorhinal cortex is one of the first regions of the brain to display the neuropathology typical of Alzheimer's disease, yet little is known about the changes that occur in membrane lipids within this brain region during normal aging (i.e., in the absence of dementia). In the present study, the phospholipid composition of mitochondrial and microsomal membranes from human entorhinal cortex was examined for any changes over the adult lifespan (18-98 years)...
February 2017: Geroscience
https://www.readbyqxmd.com/read/28298604/prion-strain-characterization-of-a-novel-subtype-of-creutzfeldt-jakob-disease
#18
Roberta Galeno, Michele Angelo Di Bari, Romolo Nonno, Franco Cardone, Marco Sbriccoli, Silvia Graziano, Loredana Ingrosso, Michele Fiorini, Angelina Valanzano, Giulia Pasini, Anna Poleggi, Ramona Vinci, Anna Ladogana, Maria Puopolo, Salvatore Monaco, Umberto Agrimi, Gianluigi Zanusso, Maurizio Pocchiari
In 2007, we reported a patient with an atypical form of Creutzfeldt-Jakob disease (CJD), heterozygous for methionine-valine (MV) at codon 129, who showed a novel pathological prion protein (PrP(TSE)) conformation with an atypical glycoform (AG) profile and an intraneuronal PrP deposition. In the present study, we further characterized the conformational properties of this pathological prion protein (PrP(TSE) MV(AG)) showing that PrP(TSE) MV(AG) is composed by multiple conformers with biochemical properties distinct from PrP(TSE) type 1 and type 2 of MV sporadic CJD (sCJD)...
March 15, 2017: Journal of Virology
https://www.readbyqxmd.com/read/28298170/concussion-induces-hippocampal-circuitry-disruption-in-swine
#19
John A Wolf, Brian N Johnson, Victoria E Johnson, Mary E Putt, Kevin D Browne, Constance J Mietus, Daniel P Brown, Kathryn L Wofford, Douglas H Smith, M Sean Grady, Akiva S Cohen, D Kacy Cullen
Hippocampal-dependent deficits in learning and memory formation are a prominent feature of traumatic brain injury (TBI), however the role of the hippocampus in cognitive dysfunction after concussion (mild TBI) is unknown. We therefore investigated functional and structural changes in the swine hippocampus following TBI using a model of head rotational acceleration that closely replicates the biomechanics and neuropathology of closed-head TBI in humans. We examined neurophysiological changes using a novel ex vivo hippocampal slice paradigm with extracellular stimulation and recording in the dentate gyrus and CA1 occurring at 7 days following non-impact inertial TBI in swine...
March 16, 2017: Journal of Neurotrauma
https://www.readbyqxmd.com/read/28294696/cerebrospinal-fluid-mtdna-concentration-is-elevated-in-multiple-sclerosis-disease-and-responds-to-treatment
#20
Cyra E Leurs, Petar Podlesniy, Ramon Trullas, Lisanne Balk, Martijn D Steenwijk, Arjan Malekzadeh, Fredrik Piehl, Bernard Mj Uitdehaag, Joep Killestein, Jack van Horssen, C E Teunissen
BACKGROUND: Mitochondrial dysfunction is increasingly recognized as an important feature of multiple sclerosis (MS) pathology and may be relevant for clinical disease progression. However, it is unknown whether mitochondrial DNA (mtDNA) levels in the cerebrospinal fluid (CSF) associate with disease progression and therapeutic response. OBJECTIVES: To evaluate whether CSF concentrations of mtDNA in MS patients can serve as a marker of ongoing neuropathology and may be helpful to differentiate between MS disease subtypes...
March 1, 2017: Multiple Sclerosis: Clinical and Laboratory Research
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