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Nervous System Diseases Commons

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A Cre-Inducible Dux4 Transgenic Mouse Model For Investigating Facioscapulohumeral Muscular Dystrophy, Takako I. Jones, Peter L. Jones 2018 University of Massachusetts Medical School

A Cre-Inducible Dux4 Transgenic Mouse Model For Investigating Facioscapulohumeral Muscular Dystrophy, Takako I. Jones, Peter L. Jones

Open Access Articles

The Double homeobox 4 (DUX4) gene is an important regulator of early human development and its aberrant expression is causal for facioscapulohumeral muscular dystrophy (FSHD). The DUX4-full length (DUX4-fl) mRNA splice isoform encodes a transcriptional activator; however, DUX4 and its unique DNA binding preferences are specific to old-world primates. Regardless, the somatic cytotoxicity caused by DUX4 expression is conserved when expressed in cells and animals ranging from fly to mouse. Thus, viable animal models based on DUX4-fl expression have been difficult to generate due in large part to overt developmental toxicity of low DUX4-fl expression from leaky transgenes. We have ...


(18)F-Vc701-Pet And Mri In The In Vivo Neuroinflammation Assessment Of A Mouse Model Of Multiple Sclerosis, Sara Belloli, Lucia Zanotti, Valentina Murtaj, Cristina Mazzon, Giuseppe Di Grigoli, Cristina Monterisi, Valeria Masiello, Leonardo Iaccarino, Andrea Cappelli, Pietro Luigi Poliani, Letterio S. Politi, Rosa Maria Moresco 2018 University of Milano-Bicocca

(18)F-Vc701-Pet And Mri In The In Vivo Neuroinflammation Assessment Of A Mouse Model Of Multiple Sclerosis, Sara Belloli, Lucia Zanotti, Valentina Murtaj, Cristina Mazzon, Giuseppe Di Grigoli, Cristina Monterisi, Valeria Masiello, Leonardo Iaccarino, Andrea Cappelli, Pietro Luigi Poliani, Letterio S. Politi, Rosa Maria Moresco

Radiology Publications and Presentations

BACKGROUND: Positron emission tomography (PET) using translocator protein (TSPO) ligands has been used to detect neuroinflammatory processes in neurological disorders, including multiple sclerosis (MS). The aim of this study was to evaluate neuroinflammation in a mouse MS model (EAE) using TSPO-PET with (18)F-VC701, in combination with magnetic resonance imaging (MRI).

METHODS: MOG35-55/CFA and pertussis toxin protocol was used to induce EAE in C57BL/6 mice. Disease progression was monitored daily, whereas MRI evaluation was performed at 1, 2, and 4 weeks post-induction. Microglia activation was assessed in vivo by (18)F-VC701 PET at the time of maximum disease ...


Pilot Study To Assess Visualization And Therapy Of Inflammatory Mechanisms After Vessel Reopening In A Mouse Stroke Model, Ebba Beller, Laura Reuter, Anne Kluge, Christine Preibisch, Ute Lindauer, Alexei A. Bogdanov Jr., Friederike Lammer, Claire Delbridge, Kaspar Matiasek, Benedikt J. Schwaiger, Tobias Boeckh-Behrens, Claus Zimmer, Alexandra S. Gersing 2018 Klinikum rechts der Isar der Technischen Universität München

Pilot Study To Assess Visualization And Therapy Of Inflammatory Mechanisms After Vessel Reopening In A Mouse Stroke Model, Ebba Beller, Laura Reuter, Anne Kluge, Christine Preibisch, Ute Lindauer, Alexei A. Bogdanov Jr., Friederike Lammer, Claire Delbridge, Kaspar Matiasek, Benedikt J. Schwaiger, Tobias Boeckh-Behrens, Claus Zimmer, Alexandra S. Gersing

Radiology Publications and Presentations

After reperfusion therapy in stroke patients secondary inflammatory processes may increase cerebral damage. In this pilot study, effects of anti-inflammatory therapy were assessed in a middle cerebral artery occlusion (MCAO) mouse model after reperfusion. 1 hour after MCAO, the artery was reopened and tacrolimus or NaCl were administered intra-arterially. Perfusion-weighted (PWI) and diffusion-weighted images (DWI) were obtained by MRI during MCAO. DWI, T2- and T1-weighted images with and without Bis-5HT-DTPA administration were obtained 24 hours after MCAO. Neutrophils, Myeloperoxidase-positive-(MPO+)-cells and microglia, including M1 and M2 phenotypes, were assessed immunohistochemically. Treatment with tacrolimus led to significantly smaller apparent diffusion ...


C9orf72 Ggggcc Repeat-Associated Non-Aug Translation Is Upregulated By Stress Through Eif2alpha Phosphorylation, Weiwei Cheng, Shaopeng Wang, Alexander A. Mestre, Chenglai Fu, Andres Makarem, Fengfan Xian, Lindsey R. Hayes, Rodrigo Lopez-Gonzalez, Kevin Drenner, Jie Jiang, Don W. Cleveland, Shuying Sun 2018 Johns Hopkins University

C9orf72 Ggggcc Repeat-Associated Non-Aug Translation Is Upregulated By Stress Through Eif2alpha Phosphorylation, Weiwei Cheng, Shaopeng Wang, Alexander A. Mestre, Chenglai Fu, Andres Makarem, Fengfan Xian, Lindsey R. Hayes, Rodrigo Lopez-Gonzalez, Kevin Drenner, Jie Jiang, Don W. Cleveland, Shuying Sun

Open Access Articles

Hexanucleotide repeat expansion in C9ORF72 is the most frequent cause of both amyotrophic lateral sclerosis (ALS) and frontotemporal dementia (FTD). Here we demonstrate that the repeat-associated non-AUG (RAN) translation of (GGGGCC) n -containing RNAs into poly-dipeptides can initiate in vivo without a 5'-cap. The primary RNA substrate for RAN translation of C9ORF72 sense repeats is shown to be the spliced first intron, following its excision from the initial pre-mRNA and transport to the cytoplasm. Cap-independent RAN translation is shown to be upregulated by various stress stimuli through phosphorylation of the alpha subunit of eukaryotic initiation factor-2 (eIF2alpha), the core ...


Ccl11 As A Biomarker For The In Vivo Diagnosis Of Chronic Traumatic Encephalopathy, Robert Weissenfels 2018 Claremont McKenna College

Ccl11 As A Biomarker For The In Vivo Diagnosis Of Chronic Traumatic Encephalopathy, Robert Weissenfels

CMC Senior Theses

Chronic traumatic encephalopathy is the neurodegenerative disease that is ascribed to the long term development of cognitive, behavioral, emotional, and motor deficits as a result of the exposure to high amounts of sub concussive traumatic brain injuries. The disease has gained recent popularity in the media for its prevalence in American football as a response to recent research that has suggested the prominence of the disease in nearly every NFL player that is examined post mortem. This has produced a growing concern for the consequences of head impact and participation in contact sports. Despite media attention, little is currently known ...


Cellular Senescence Is Induced By The Environmental Neurotoxin Paraquat And Contributes To Neuropathology Linked To Parkinson’S Disease, Shankar J. Chinta, Georgia Woods, Marco Demaria, Anand Rane, Ying Zou, Amanda McQuade, David T. Madden 2018 Touro University California

Cellular Senescence Is Induced By The Environmental Neurotoxin Paraquat And Contributes To Neuropathology Linked To Parkinson’S Disease, Shankar J. Chinta, Georgia Woods, Marco Demaria, Anand Rane, Ying Zou, Amanda Mcquade, David T. Madden

College of Pharmacy (TUC) Publications and Research

Exposure to the herbicide paraquat (PQ) is associated with an increased risk of idiopathic Parkinson’s disease (PD). Therapies based on PQ’s presumed mechanisms of action have not, however, yielded effective disease therapies. Cellular senescence is an anticancer mechanism that arrests proliferation of replication-competent cells and results in a pro-inflammatory senescence-associated secretory phenotype (SASP) capable of damaging neighboring tissues. Here, we demonstrate that senescent cell markers are preferentially present within astrocytes in PD brain tissues. Additionally, PQ was found to induce astrocytic senescence and an SASP in vitro and in vivo, and senescent cell depletion in the latter protects ...


Critically Appraised Paper For “Effects Of Dance On Motor Functions, Cognitive Functions, And Mental Symptoms Of Parkinson’S Disease: A Quasi-Randomized Pilot Trial”, May Anne Gamueda, Caroline Lee, Susan Nguyen, Ajay Pala, Blanka Pentek, Kitsum Li 2018 Dominican University of California

Critically Appraised Paper For “Effects Of Dance On Motor Functions, Cognitive Functions, And Mental Symptoms Of Parkinson’S Disease: A Quasi-Randomized Pilot Trial”, May Anne Gamueda, Caroline Lee, Susan Nguyen, Ajay Pala, Blanka Pentek, Kitsum Li

Occupational Therapy | Critically Appraised Papers Series

Parkinson’s disease (PD) is a systemic condition that presents not only motor but also nonmotor symptoms, as a result of dopamine deficiency in the basal ganglia. Rehabilitation typically focuses on motor deficits, however, despite the fact that nonmotor symptoms have a significant impact on quality of life. The researchers of this study investigated the effectiveness of dance on motor functions, cognitive functions, and mental symptoms of individuals with PD. They chose dance as their intervention because it has been shown to activate the basal ganglia as well as improve mood. In addition to motor function and mood, the researchers ...


Critically Appraised Paper For “Adaptive Vs. Non-Adaptive Cognitive Training By Means Of A Personalized App: A Randomized Trial In People With Multiple Sclerosis.”, Erin Chaffee, Ty Duong, Kaylee Gothelf, Emily Minor, Kitsum Li 2018 Dominican University of California

Critically Appraised Paper For “Adaptive Vs. Non-Adaptive Cognitive Training By Means Of A Personalized App: A Randomized Trial In People With Multiple Sclerosis.”, Erin Chaffee, Ty Duong, Kaylee Gothelf, Emily Minor, Kitsum Li

Occupational Therapy | Critically Appraised Papers Series

The purpose of this study was to evaluate the effectiveness of a working-memory program to improve the cognitive status of people with multiple sclerosis (MS). Given the increasing use of technology in modern-day society, further research is required to provide evidence supporting working-memory training devices that are easily accessible for people with memory deficits.


Bow Hunter's Syndrome In A Patient With A Right Hypoplastic Vertebral Artery And A Dynamically Compressible Left Vertebral Artery, David Z. Cai, Ryan P. Roach, John P. Weaver, Gerald T. McGillicuddy, Zachary M. Mansell, Jonathan P. Eskander, Mark S. Eskander 2018 Tulane University

Bow Hunter's Syndrome In A Patient With A Right Hypoplastic Vertebral Artery And A Dynamically Compressible Left Vertebral Artery, David Z. Cai, Ryan P. Roach, John P. Weaver, Gerald T. Mcgillicuddy, Zachary M. Mansell, Jonathan P. Eskander, Mark S. Eskander

Open Access Articles

This is a case report of a 48-year-old man with multiple transient ischemic attacks and a known hypoplastic right vertebral artery (VA) who presented after a syncopal event while turning his head to the left. The objective of this study is to demonstrate the necessity of proper diagnosis and management of cerebrovascular pathology including imaging and surgical intervention in patients with known anatomical anomalies. This study was conducted at Massachusetts, United States of America. Our patient's history was significant for a hypoplastic right VA and a stenotic segment of the right VA at the C3-C4 junction. There was also ...


Prior Voluntary Wheel Running Prevents Memory Deficits And Enhanced Neuropathic Pain Presenting After Morphine Dosing Ceases, Nathan Plattner 2018 University of Colorado, Boulder

Prior Voluntary Wheel Running Prevents Memory Deficits And Enhanced Neuropathic Pain Presenting After Morphine Dosing Ceases, Nathan Plattner

Undergraduate Honors Theses

Clinical research studies show that chronic pain is a prevalent, difficult affliction to manage. The most common management for chronic pain is opioids, which research is showing to paradoxically induce persistent, worsened pain states as well as potentially having negative effects on memory. The necessity for understanding chronic pain and drug management options is apparent, and research is aiming to do just that. Exercise is one potential preventative measure or post hoc treatment possibility for chronic pain, as abundant research has shown. Knowledge of the interactions between exercise, morphine dosing, and peripheral nerve injury is nonexistent. As such, we desired ...


Reducing The Rate Of Misdiagnosis Of Postural Orthostatic Tachycardia Syndrome, Isabelle C. Gill 2018 University of Central Florida

Reducing The Rate Of Misdiagnosis Of Postural Orthostatic Tachycardia Syndrome, Isabelle C. Gill

Honors in the Major Theses

Postural orthostatic tachycardia syndrome (POTS) is a common yet frequently misdiagnosed dysautonomia characterized by a significant increase in heart rate upon standing. POTS patients experience severe fatigue, dizziness, pre-syncope, and a diminished quality of life. The intent of this thesis is to investigate factors contributing to POTS misdiagnosis and develop a proposal for improving diagnostic procedures. The first part of this thesis presents an overview of other frequently misdiagnosed conditions, providing an understanding of the basis for the diagnostic problems in POTS and methods to combat such difficulties. The second part of this thesis details a meta-analysis performed on POTS ...


Integrated Genome-Wide Alu Methylation And Transcriptome Profiling Analyses Reveal Novel Epigenetic Regulatory Networks Associated With Autism Spectrum Disorder., Thanit Saeliw, Chayanin Tangsuwansri, Surangrat Thongkorn, Weerasak Chonchaiya, Kanya Suphapeetiporn, Apiwat Mutirangura, Tewin Tencomnao, Valerie W Hu, Tewarit Sarachana 2018 George Washington University

Integrated Genome-Wide Alu Methylation And Transcriptome Profiling Analyses Reveal Novel Epigenetic Regulatory Networks Associated With Autism Spectrum Disorder., Thanit Saeliw, Chayanin Tangsuwansri, Surangrat Thongkorn, Weerasak Chonchaiya, Kanya Suphapeetiporn, Apiwat Mutirangura, Tewin Tencomnao, Valerie W Hu, Tewarit Sarachana

Biochemistry and Molecular Medicine Faculty Publications

Background: Alu elements are a group of repetitive elements that can influence gene expression through CpG residues and transcription factor binding. Altered gene expression and methylation profiles have been reported in various tissues and cell lines from individuals with autism spectrum disorder (ASD). However, the role of Alu elements in ASD remains unclear. We thus investigated whether Alu elements are associated with altered gene expression profiles in ASD.

Methods: We obtained five blood-based gene expression profiles from the Gene Expression Omnibus database and human Alu-inserted gene lists from the TranspoGene database. Differentially expressed genes (DEGs) in ASD were identified from ...


Why West? Comparisons Of Clinical, Genetic And Molecular Features Of Infants With And Without Spasms., Anne T Berg, Samya Chakravorty, Sookyong Koh, Zachary M Grinspan, Renée A Shellhaas, William D Gaillard, +several additional authors 2018 George Washington University

Why West? Comparisons Of Clinical, Genetic And Molecular Features Of Infants With And Without Spasms., Anne T Berg, Samya Chakravorty, Sookyong Koh, Zachary M Grinspan, Renée A Shellhaas, William D Gaillard, +Several Additional Authors

Neurology Faculty Publications

Infantile spasms are the defining seizures of West syndrome, a severe form of early life epilepsy with poorly-understood pathophysiology. We present a novel comparative analysis of infants with spasms versus other seizure-types and identify clinical, etiological, and molecular-genetic factors preferentially predisposing to spasms. We compared ages, clinical etiologies, and associated-genes between spasms and non-spasms groups in a multicenter cohort of 509 infants (


Development Of A Pet Radioligand For Potassium Channels To Image Cns Demyelination, Pedro Brugarolas, Jorge Sanchez-Rodriguez, Hsiu-Ming Tsai, Falguni Basuli, Shih-Hsun Cheng, Robert H. Miller, +several additional authors 2018 George Washington University

Development Of A Pet Radioligand For Potassium Channels To Image Cns Demyelination, Pedro Brugarolas, Jorge Sanchez-Rodriguez, Hsiu-Ming Tsai, Falguni Basuli, Shih-Hsun Cheng, Robert H. Miller, +Several Additional Authors

Anatomy and Regenerative Biology Faculty Publications

Central nervous system (CNS) demyelination represents the pathological hallmark of multiple sclerosis (MS) and contributes to other neurological conditions. Quantitative and specific imaging of demyelination would thus provide critical clinical insight. Here, we investigated the possibility of targeting axonal potassium channels to image demyelination by positron emission tomography (PET). These channels, which normally reside beneath the myelin sheath, become exposed upon demyelination and are the target of the MS drug, 4-aminopyridine (4-AP). We demonstrate using autoradiography that 4-AP has higher binding in non-myelinated and demyelinated versus well-myelinated CNS regions, and describe a fluorine-containing derivative, 3-F-4-AP, that has similar pharmacological properties ...


Screening Techniques For Alzheimer’S Disease, Christina Nicole Brooks 2018 University of North Dakota

Screening Techniques For Alzheimer’S Disease, Christina Nicole Brooks

Physician Assistant Scholarly Project Papers

Alzheimer’s disease is a neurodegenerative disease that affects more than 55 million Americans. By the year 2050, experts project this disease will have increased three fold. Many screening techniques have been investigated to detect this disease early and begin treatment to slow its progression. The purpose of this study was to explore which medical modalities are the most effective for screening of Alzheimer’s disease. This literature review includes three databases, including PubMed, CINHAL, and Cochrane Database of Systematic Reviews. Topics that were researched include: cognitive screening tests, neuroimaging, laboratory diagnostic testing, DNA, and combined studies. Research was conducted ...


Screening Techniques For Alzheimer's Disease, Christina Nicole Brooks 2018 University of North Dakota

Screening Techniques For Alzheimer's Disease, Christina Nicole Brooks

Physician Assistant Scholarly Project Posters

Alzheimer’s disease is a neurodegenerative disease that affects more than 55 million Americans. By the year 2050, experts project this disease will have increased three fold. Many screening techniques have been investigated to detect this disease early and begin treatment to slow its progression. The purpose of this study was to explore which medical modalities are the most effective for screening of Alzheimer’s disease. This literature review includes three databases, including PubMed, CINHAL, and Cochrane Database of Systematic Reviews. Topics that were researched include: cognitive screening tests, neuroimaging, laboratory diagnostic testing, DNA, and combined studies. Research was conducted ...


Evaluation Of Immune-Modulating Therapies For Parkinson's Disease, Katherine E. Olson 2017 University of Nebraska Medical Center

Evaluation Of Immune-Modulating Therapies For Parkinson's Disease, Katherine E. Olson

Theses & Dissertations

Parkinson’s disease (PD) is the second most common neurodegenerative

disorder, second only to Alzheimer’s disease (AD). It is characterized by a

progressive loss of dopaminergic neurons along the nigrostriatal axis and the

formation of proteinaceous inclusions of alpha-synuclein (α-syn). Secondary to

the loss of dopaminergic neurons is a progression in motor and non-motor

symptoms. Motor symptoms are characterized by slowness in movement,

stiffness and tremor. Non-motor symptoms include depression, constipation,

sleep abnormalities and loss of sense of smell. The cause of disease remains

incompletely understood. However, age, genetics, environment, viral infection,

and interplay between the innate and adaptive ...


Structural Insights Into The Potency Of Sk Channel Positive Modulators, Young-Woo Nam, Razan Orfali, Tingting Liu, Kunqian Yu, Meng Cui, Heike Wulff, Miao Zhang 2017 Chapman University

Structural Insights Into The Potency Of Sk Channel Positive Modulators, Young-Woo Nam, Razan Orfali, Tingting Liu, Kunqian Yu, Meng Cui, Heike Wulff, Miao Zhang

Pharmacy Faculty Articles and Research

Small-conductance Ca2+-activated K+ (SK) channels play essential roles in the regulation of cellular excitability and have been implicated in neurological and cardiovascular diseases through both animal model studies and human genetic association studies. Over the past two decades, positive modulators of SK channels such as NS309 and 1-EBIO have been developed. Our previous structural studies have identified the binding pocket of 1-EBIO and NS309 that is located at the interface between the channel and calmodulin. In this study, we took advantage of four compounds with potencies varying over three orders of magnitude, including 1-EBIO, NS309, SKS-11 (6-bromo-5-methyl-1H-indole-2 ...


Pitx3null Mutant (Striatal Dopamine-Deficient) Mice Have Exaggerated Spiny Projection Neuron Responses To L-Dopa And D1 Agonism And Lack Baseline Striatonigral Spiking, Ben Sagot 2017 University of Tennessee Health Science Center

Pitx3null Mutant (Striatal Dopamine-Deficient) Mice Have Exaggerated Spiny Projection Neuron Responses To L-Dopa And D1 Agonism And Lack Baseline Striatonigral Spiking, Ben Sagot

Theses and Dissertations (ETD)

L-3,4 dihidroxyphenylalanine (l-DOPA) strongly stimulates motor activity in parkinsonian patients and animal models of Parkinson's disease. Severe striatal dopamine (DA) loss characterizes Parkinson's disease and its animal models. Given the canonical rate model of Parkinson's Disease pathophysiology based on differences in DA pharmacology manifesting as electrophysiological differences in striatal projection neuron (SPN) spike rates, SPNs should increase spiking during the motor response to l-DOPA. In fact, stimulating specific subsets of these neurons to spike in freely-moving wild type and parkinsonian animals causes or inhibits motor activity as predicted. However, pharmacological effects of DA deficiency, let alone ...


X-Linked Hypomyelination With Spondylometaphyseal Dysplasia (H-Smd) Associated With Mutations In Aifm1., Noriko Miyake, Nicole I Wolf, Ferdy K Cayami, Joanna Crawford, Annette Bley, Dorothy Bulas, Ryan J Taft, Adeline Vanderver, +several additional authors 2017 George Washington University

X-Linked Hypomyelination With Spondylometaphyseal Dysplasia (H-Smd) Associated With Mutations In Aifm1., Noriko Miyake, Nicole I Wolf, Ferdy K Cayami, Joanna Crawford, Annette Bley, Dorothy Bulas, Ryan J Taft, Adeline Vanderver, +Several Additional Authors

Neurology Faculty Publications

An X-linked condition characterized by the combination of hypomyelinating leukodystrophy and spondylometaphyseal dysplasia (H-SMD) has been observed in only four families, with linkage to Xq25-27, and recent genetic characterization in two families with a common AIFM1 mutation. In our study, 12 patients (6 families) with H-SMD were identified and underwent comprehensive assessment accompanied by whole-exome sequencing (WES). Pedigree analysis in all families was consistent with X-linked recessive inheritance. Presentation typically occurred between 12 and 36 months. In addition to the two disease-defining features of spondylometaphyseal dysplasia and hypomyelination on MRI, common clinical signs and symptoms included motor deterioration, spasticity, tremor ...


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