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Experiences Of Persons With Parkinson’S Disease Engaged In Group Therapeutic Singing, Elizabeth L. Stegemoller, Tera R. Hurt, Margaret C. Shirley, Randie D. Camp, Chrishelda W. Green, Jenna C. Pattee, Ebony Williams 2017 Iowa State University

Experiences Of Persons With Parkinson’S Disease Engaged In Group Therapeutic Singing, Elizabeth L. Stegemoller, Tera R. Hurt, Margaret C. Shirley, Randie D. Camp, Chrishelda W. Green, Jenna C. Pattee, Ebony Williams

Human Development and Family Studies Publications

Background Parkinson’s disease (PD) is a progressive neurodegenerative disorder that leads to altered neural control of movement, including the control of voice, respiration, and swallowing. There is a prevalent need to provide therapy for voice, respiration, and swallowing difficulties because current pharmacological and surgical treatments do not effectively treat these impairments. Previous research has demonstrated that singing may be a treatment option to target voice, respiratory, and swallowing impairments, as well as quality of life. However, participants’ perspectives related to reasons for enrolling and engaging in programs as well as evaluation of singing programs have been neglected.

Objective The ...


The Effect Of Rare Variants In Trem2 And Pld3 On Longitudinal Cognitive Function In The Wisconsin Registry For Alzheimer's Prevention, Corinne D. Engelman, Burcu F. Darst, Murat Bilgel, Eva Vasiljevic, Rebecca L. Koscik, Bruno M. Jedynak, Sterling C. Johnson 2017 University of Wisconsin School of Medicine and Public Health

The Effect Of Rare Variants In Trem2 And Pld3 On Longitudinal Cognitive Function In The Wisconsin Registry For Alzheimer's Prevention, Corinne D. Engelman, Burcu F. Darst, Murat Bilgel, Eva Vasiljevic, Rebecca L. Koscik, Bruno M. Jedynak, Sterling C. Johnson

Mathematics and Statistics Faculty Publications and Presentations

Recent studies have found an association between functional variants in TREM2 and PLD3 and Alzheimer's disease (AD), but their effect on cognitive function is unknown. We examined the effect of these variants on cognitive function in 1449 participants from the Wisconsin Registry for Alzheimer's Prevention, a longitudinal study of initially asymptomatic adults, aged 36–73 years at baseline, enriched for a parental history of AD. A comprehensive cognitive test battery was performed at up to 5 visits. A factor analysis resulted in 6 cognitive factors that were standardized into z scores (∼N [0, 1]); the mean of these ...


Understanding Huntington's Disease Using Machine Learning Approaches, Sonali Lokhande 2017 Keck Graduate Institute

Understanding Huntington's Disease Using Machine Learning Approaches, Sonali Lokhande

KGI Theses and Dissertations

Huntington’s disease (HD) is a debilitating neurodegenerative disorder with a complex pathophysiology. Despite extensive studies to study the disease, the sequence of events through which mutant Huntingtin (mHtt) protein executes its action still remains elusive. The phenotype of HD is an outcome of numerous processes initiated by the mHtt protein along with other proteins that act as either suppressors or enhancers of the effects of mHtt protein and PolyQ aggregates. Utilizing an integrative systems biology approach, I construct and analyze a Huntington’s disease integrome using human orthologs of protein interactors of wild type and mHtt protein. Analysis of ...


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 ...


The Role Of Rnf4 In Stripping Transcriptionally-Active Huntingtin, Jen Peek 2017 College of William and Mary

The Role Of Rnf4 In Stripping Transcriptionally-Active Huntingtin, Jen Peek

Undergraduate Honors Theses

Altered gene expression is a hallmark of neurodegenerative disorders such as Huntington’s disease. The causative agent of Huntington’s is a mutant, aggregation-prone fragment of huntingtin (htt) that aggregates in the cytosol and nuclei of neuronal cells. The severity and onset of Huntington’s is correlated with the length of a polyglutamine (Q) tract encoded in the N-terminus of htt. Little is known about the nuclear accumulation of polyQ expanded htt, how it interacts with chromatin, and dysregulates transcriptional activity. In this thesis, we investigate the effect of nuclear localized htt on reporter gene activation and demonstrate that the ...


Effect Of Src Kinase Inhibition On Cytochrome C, Smac/Diablo And Apoptosis Inducing Factor (Aif) Following Cerebral Hypoxia-Ischemia In Newborn Piglets., Panagiotis Kratimenos, Ioannis Koutroulis, Beamon Agarwal, Stamatios Theocharis, Maria Delivoria-Papadopoulos 2017 George Washington University

Effect Of Src Kinase Inhibition On Cytochrome C, Smac/Diablo And Apoptosis Inducing Factor (Aif) Following Cerebral Hypoxia-Ischemia In Newborn Piglets., Panagiotis Kratimenos, Ioannis Koutroulis, Beamon Agarwal, Stamatios Theocharis, Maria Delivoria-Papadopoulos

Pediatrics Faculty Publications

We have previously shown that cerebral Hypoxia-ischemia (HI) results in activation of Src kinase in the newborn piglet brain. We investigated the regulatory mechanism by which the pre-apoptotic proteins translocate from mitochondria to the cytosol during HI through the Src kinase. Newborn piglets were divided into 3 groups (n = 5/group): normoxic (Nx), HI and HI pre-treated with Src kinase inhibitor PP2 (PP2 + HI). Brain tissue HI was verified by neuropathological analysis and by Adenosine Triphosphate (ATP) and Phosphocreatine (PCr) levels. We used western blots, immunohistochemistry, H&E and biochemical enzyme assays to determine the role of Src kinase on ...


Targeted Genetic Screen In Amyotrophic Lateral Sclerosis Reveals Novel Genetic Variants With Synergistic Effect On Clinical Phenotype, Pamela J. Shaw, Kevin P. Kenna, John E. Landers 2017 University of Sheffield

Targeted Genetic Screen In Amyotrophic Lateral Sclerosis Reveals Novel Genetic Variants With Synergistic Effect On Clinical Phenotype, Pamela J. Shaw, Kevin P. Kenna, John E. Landers

Open Access Articles

Amyotrophic lateral sclerosis (ALS) is underpinned by an oligogenic rare variant architecture. Identified genetic variants of ALS include RNA-binding proteins containing prion-like domains (PrLDs). We hypothesized that screening genes encoding additional similar proteins will yield novel genetic causes of ALS. The most common genetic variant of ALS patients is a G4C2-repeat expansion within C9ORF72. We have shown that G4C2-repeat RNA sequesters RNA-binding proteins. A logical consequence of this is that loss-of-function mutations in G4C2-binding partners might contribute to ALS pathogenesis independently of and/or synergistically with C9ORF72 expansions. Targeted sequencing of genomic DNA encoding either RNA-binding proteins or known ALS ...


Brain Imaging In Older Patients With Delirium, Laila M. Hasan, Ariba Khan, Maharaj Singh, Michael L. Malone 2017 Aurora St. Luke's Medical Center

Brain Imaging In Older Patients With Delirium, Laila M. Hasan, Ariba Khan, Maharaj Singh, Michael L. Malone

Journal of Patient-Centered Research and Reviews

Background: Delirium is a common, serious and costly condition in older patients admitted to the hospital. This study describes the prevalence and results of brain imaging among a cohort of older hospitalized patients with and without delirium.

Purpose: Investigate the frequency and results of brain imaging in older patients with delirium as compared to those without delirium.

Methods: This was a cross-sectional study. Data were collected on hospitalized patients age 65 years or older who were admitted to 3 hospitals in Milwaukee, Wisconsin, during a 1-month period in the fall of 2013. Subjects were tested for delirium via the “Confusion ...


A General Neurologist's Perspective On The Urgent Need To Apply Resilience Thinking To The Prevention And Treatment Of Alzheimer's Disease, Grazyna Pomorska, Judith K. Ockene 2017 University of Massachusetts Medical School

A General Neurologist's Perspective On The Urgent Need To Apply Resilience Thinking To The Prevention And Treatment Of Alzheimer's Disease, Grazyna Pomorska, Judith K. Ockene

Open Access Articles

The goal of this article was to look at the problem of Alzheimer's disease (AD) through the lens of a socioecological resilience-thinking framework to help expand our view of the prevention and treatment of AD. This serious and complex public health problem requires a holistic systems approach. We present the view that resilience thinking, a theoretical framework that offers multidisciplinary approaches in ecology and natural resource management to solve environmental problems, can be applied to the prevention and treatment of AD. Resilience thinking explains a natural process that occurs in all complex systems in response to stressful challenges. The ...


Medical Therapies For Motor Symptoms In Parkinson’S Disease, Conrad Musey, Vikram Shivkumar 2017 Marshall University Joan C. Edwards School of Medicine

Medical Therapies For Motor Symptoms In Parkinson’S Disease, Conrad Musey, Vikram Shivkumar

Marshall Journal of Medicine

Parkinson’s Disease is the second most common neurodegenerative disorder in the aging population. It is associated with progressive loss of nigrostriatal dopaminergic neurons. Parkinsonism is a clinical syndrome that consists of motor and non-motor symptoms. It has been well described that many if not all of these deficits are associated with abnormalities related to the neurotransmitter Dopamine. This review is intended for primary care physicians who often establish the diagnosis and initiate Parkinson’s treatments. One challenge faced by the primary care physician is to decide the appropriate medication and starting dose. Often medications are used at very low ...


Rna Sequencing And Proteomics Approaches Reveal Novel Deficits In The Cortex Of Mecp2-Deficient Mice, A Model For Rett Syndrome, Natasha L. Pacheco, Michael R. Heaven, Leanne M. Holt, David K. Crossman, Kristin J. Boggio, Scott A. Shaffer, Daniel L. Flint, Michelle L. Olsen 2017 University of Alabama, Birmingham

Rna Sequencing And Proteomics Approaches Reveal Novel Deficits In The Cortex Of Mecp2-Deficient Mice, A Model For Rett Syndrome, Natasha L. Pacheco, Michael R. Heaven, Leanne M. Holt, David K. Crossman, Kristin J. Boggio, Scott A. Shaffer, Daniel L. Flint, Michelle L. Olsen

Open Access Articles

BACKGROUND: Rett syndrome (RTT) is an X-linked neurodevelopmental disorder caused by mutations in the transcriptional regulator MeCP2. Much of our understanding of MeCP2 function is derived from transcriptomic studies with the general assumption that alterations in the transcriptome correlate with proteomic changes. Advances in mass spectrometry-based proteomics have facilitated recent interest in the examination of global protein expression to better understand the biology between transcriptional and translational regulation.

METHODS: We therefore performed the first comprehensive transcriptome-proteome comparison in a RTT mouse model to elucidate RTT pathophysiology, identify potential therapeutic targets, and further our understanding of MeCP2 function. The whole cortex ...


Ufm1 Founder Mutation In The Roma Population Causes Recessive Variant Of H-Abc., Eline M C Hamilton, Enrico Bertini, Luba Kalaydjieva, Bharti Morar, Dana Dojčáková, Adeline Vanderver, Recessive H-ABC Research Group. 2017 George Washington University

Ufm1 Founder Mutation In The Roma Population Causes Recessive Variant Of H-Abc., Eline M C Hamilton, Enrico Bertini, Luba Kalaydjieva, Bharti Morar, Dana Dojčáková, Adeline Vanderver, Recessive H-Abc Research Group.

Neurology Faculty Publications

OBJECTIVE: To identify the gene defect in patients with hypomyelination with atrophy of the basal ganglia and cerebellum (H-ABC) who are negative for TUBB4A mutations.

METHODS: We performed homozygosity mapping and whole exome sequencing (WES) to detect the disease-causing variant. We used a Taqman assay for population screening. We developed a luciferase reporter construct to investigate the effect of the promoter mutation on expression.

RESULTS: Sixteen patients from 14 families from different countries fulfilling the MRI criteria for H-ABC exhibited a similar, severe clinical phenotype, including lack of development and a severe epileptic encephalopathy. The majority of patients had a ...


Mental Illness And The Grace Of God, Laura K. Sjoquist 2017 Cedarville University

Mental Illness And The Grace Of God, Laura K. Sjoquist

Bioethics in Faith and Practice

This paper will attempt to address God's grace towards those with mental illnesses. It also attempts to provide direction in response to historical church views towards this population. Through scripture, this paper seeks to emphasize the importance of seeing a person as more than what they physically appear capable of - seeing people through God's eyes.


Role Of Microglial Amylin Receptors In Mediating Beta Amyloid (Aβ)-Induced Inflammation, Wen Fu, Vlatka Vukojevic, Aarti Patel, Rania Soudy, David MacTavish, David Westaway, Kamaljit Kaur, Valeri Goncharuk, Jack Jhamandas 2017 University of Alberta

Role Of Microglial Amylin Receptors In Mediating Beta Amyloid (Aβ)-Induced Inflammation, Wen Fu, Vlatka Vukojevic, Aarti Patel, Rania Soudy, David Mactavish, David Westaway, Kamaljit Kaur, Valeri Goncharuk, Jack Jhamandas

Pharmacy Faculty Articles and Research

Background: Neuroinflammation in the brain consequent to activation of microglia is viewed as an important component of Alzheimer’s disease (AD) pathology. Amyloid beta (Aβ) protein is known to activate microglia and unleash an inflammatory cascade that eventually results in neuronal dysfunction and death. In this study, we sought to identify the presence of amylin receptors on human fetal and murine microglia and determine whether Aβ activation of the inflammasome complex and subsequent release of cytokines is mediated through these receptors.

Methods: The presence of dimeric components of the amylin receptor (calcitonin receptor and receptor activity modifying protein 3) were ...


Will Vestibulo-Ocular Reflex And Balance Rehabilitation Reduce Visual Deficits & Improve Stability Of A Patient With Multiple Sclerosis?, Natalie Hunt, Jennifer Kiggins 2017 Sacred Heart University

Will Vestibulo-Ocular Reflex And Balance Rehabilitation Reduce Visual Deficits & Improve Stability Of A Patient With Multiple Sclerosis?, Natalie Hunt, Jennifer Kiggins

Sacred Heart University Scholar

Context: Identification of rehabilitation exercises to decrease symptomology in a patient with Multiple Sclerosis (MS) is necessary for enhancing quality of life. Various vestibulo-ocular reflex (VOR) rehabilitation exercises can help patients adapt to balance problems. Currently, no researcher has utilized the VSR™ Sport and inVision™ systems by NeuroCom® for rehabilitation among patients with MS.

Objective: The purpose of the study was to create a rehabilitation protocol incorporating VOR and balance exercises to decrease visual deficits and improve stability in a patient with MS. This study will examine the effects of rehabilitation and determine if scores improve from baseline testing.

Design ...


Post-Acute Care Setting, Facility Characteristics, And Post-Stroke Outcomes: A Systematic Review, Matthew Alcusky, Christine M. Ulbricht, Kate L. Lapane 2017 University of Massachusetts Medical School

Post-Acute Care Setting, Facility Characteristics, And Post-Stroke Outcomes: A Systematic Review, Matthew Alcusky, Christine M. Ulbricht, Kate L. Lapane

University of Massachusetts Medical School Faculty Publications

OBJECTIVE: To synthesize research comparing post-stroke health outcomes between patients rehabilitated in skilled nursing facilities (SNFs) and inpatient rehabilitation facilities (IRFs). Secondly, to evaluate relationships between facility characteristics and outcomes.

DATA SOURCES: PubMed and CINAHL searches spanned January 1, 1998 to October 6, 2016 and encompassed MeSH and free-text keywords for stroke, IRF/SNF, and study outcomes. Human and English limits were used.

STUDY SELECTION: Observational and experimental studies examining outcomes of adult stroke patients rehabilitated in an IRF or SNF were eligible. Studies had to provide site of care comparisons and/or analyses incorporating facility-level characteristics and had to ...


Alterations In Mrna 3' Utr Isoform Abundance Accompany Gene Expression Changes In Human Huntington's Disease Brains, Lindsay S. Romo, Ami Ashar-Patel, Edith L. Pfister, Neil Aronin 2017 University of Massachusetts Medical School

Alterations In Mrna 3' Utr Isoform Abundance Accompany Gene Expression Changes In Human Huntington's Disease Brains, Lindsay S. Romo, Ami Ashar-Patel, Edith L. Pfister, Neil Aronin

Open Access Articles

The huntingtin gene has two mRNA isoforms that differ in their 3' UTR length. The relationship of these isoforms with Huntington's disease is not established. We provide evidence that the abundance of huntingtin 3' UTR isoforms differs between patient and control neural stem cells, fibroblasts, motor cortex, and cerebellum. Huntingtin 3' UTR isoforms, including a mid-3' UTR isoform, have different localizations, half-lives, polyA tail lengths, microRNA sites, and RNA-binding protein sites. Isoform shifts in Huntington's disease motor cortex are not limited to huntingtin; 11% of alternatively polyadenylated genes change the abundance of their 3' UTR isoforms. Altered expression ...


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