Nervous System Diseases Commons^™

Agreement Between Clinician-Rated Versus Patient-Reported Outcomes In Huntington Disease, Noelle E Carlozzi, Nicholas R Boileau, Joel S Perlmutter, Kelvin L Chou, Julie C Stout, Jane S Paulsen, Michael K Mccormack, David Cella, Martha A Nance, Jin-Shei Lai, Praveen Dayalu

Rowan-Virtua School of Osteopathic Medicine Departmental Research

BACKGROUND: Clinician-rated measures of functioning are often used as primary endpoints in clinical trials and other behavioral research in Huntington disease. As study costs for clinician-rated assessments are not always feasible, there is a question of whether patient self-report of commonly used clinician-rated measures may serve as acceptable alternatives in low risk behavioral trials.

AIM: The purpose of this paper was to determine the level of agreement between self-report and clinician-ratings of commonly used functional assessment measures in Huntington disease.

DESIGN: 486 participants with premanifest or manifest Huntington disease were examined. Total Functional Capacity, Functional Assessment, and Independence Scale assessments …

Free From The Threat Of Huntington’S Disease, Our 'Miracle Baby' Turns 18, Kenneth P. Serbin

At Risk for Huntington's Disease

No abstract provided.

Assistive Utensil: A Spork For Hand Tremors And Spatial Awareness, Ana Font Hernandez, Jacob Kabariti, Troy Taylor

Publications and Research

In this poster, we present a 3D printed solution for hand tremors and special awareness. Our spork is an assistive device designed and 3D printed for patients suffering from scleroderma, systemic sclerosis, Parkinson's, multiple sclerosis, drug withdrawal, etc. The scale-based handle will act as a counterweight to offset the contents on the other end and reduce shakiness. The larger grip allows an easy and comfortable hold. The product will be 3D printed for a customizable fit and at an affordable price. Lastly, the product will include a haptic feedback sensor to assist the visually impaired in locating food contents on …

Electrophysiological Biomarkers Of Chemotherapy-Related Cognitive Impairment In Hematological Malignancy Patients, David E. Anderson

Theses & Dissertations

Multiple cancer populations frequently report cognitive impairment following treatment with chemotherapy agents (“chemo-brain”). Impaired neuropsychological performance is commonly reported in cognitive domains of attention and executive function. Understanding neural mechanisms underlying cognitive impairments is essential to developing prevention and rehabilitation strategies. Brain imaging studies frequently show chemotherapy-related impairments within the attentional control network, which is comprised of a constellation of cortical regions that govern reportedly impaired cognitive functions. In the current dissertation research, I developed a novel electrophysiology battery aimed at recording near-instantaneous neural activity within the attentional control network during cognitive task performance. Cancer patients diagnosed with hematological malignancy …

Amygdala Corticofugal Input Shapes Mitral Cell Responses In The Accessory Olfactory Bulb, Livio Oboti, Eleonora Russo, Tuyen Tran, Daniel Durstewitz, Joshua G. Corbin

Pediatrics Faculty Publications

Interconnections between the olfactory bulb and the amygdala are a major pathway for triggering strong behavioral responses to a variety of odorants. However, while this broad mapping has been established, the patterns of amygdala feedback connectivity and the influence on olfactory circuitry remain unknown. Here, using a combination of neuronal tracing approaches, we dissect the connectivity of a cortical amygdala [posteromedial cortical nucleus (PmCo)] feedback circuit innervating the mouse accessory olfactory bulb. Optogenetic activation of PmCo feedback mainly results in feedforward mitral cell (MC) inhibition through direct excitation of GABAergic granule cells. In addition, LED-driven activity of corticofugal afferents increases …

Spinal Cord Trauma: An Overview Of Normal Structure And Function, Primary And Secondary Mechanisms Of Injury, And Emerging Treatment Modalities, Daniel Morin

Senior Honors Theses

The structures of the spinal cord and vertebral column are designed to provide flexibility, while still providing ample protection for the spinal cord deep within. While it does offer remarkable protection against most routine trauma, the spinal cord is still vulnerable to high-force etiologies of trauma and may become damaged as a result. These events are referred to as primary injury. Following the initial injury, the body’s own physiological responses cause a cascade of deleterious effects, known as secondary injury. Secondary injury is a major therapeutic target in mitigating the effects of spinal cord injury (SCI), and much research is …

A Role Of Vitamin B2 In Reducing Amyloid-Beta Toxicity In A Caenorhabditis Elegans Alzheimer’S Disease Model, Muhammad Tukur Ameen

Electronic Theses and Dissertations

Alzheimer’s disease (AD) is associated with amyloid-beta peptide deposition and loss of mitochondrial function. Using a transgenic C. elegans AD worm model expressing amyloid-beta in body wall muscle, we determined that supplementation with either of the forms of vitamin B₂, flavin mononucleotide (FMN) or flavin adenine dinucleotide (FAD) protected against amyloid-beta mediated paralysis. FMN and FAD were then assayed to determine effects on ATP, oxygen consumption, and reactive oxygen species (ROS) with these compounds not significantly improving any of these mitochondrial bioenergetic functions. Knockdown of the daf-16/FOXO transcriptional regulator or the FAD synthase enzyme completely abrogated the …

The Incidence Rate, Types, And External Causes Of Traumatic Brain Injuries In Parkinson’S Disease Patients In Nebraska 2008-2014, Maher Alsaadi

Capstone Experience: Master of Public Health

Background: Parkinson’s disease (PD) patients are at higher risk of traumatic brain injury (TBI) due to disease characteristics like tremor, bradykinesia, and impaired balance. Most of the studies that have been done in the United States to investigate the incident rate and causes of TBI among PD patients have mainly focused on falls, while none of these studies have thoroughly addressed all causes of TBI among the PD population or have used a population-based database. Our study aims to investigate the incidence rate, types, and external causes of TBI stratified by age of PD diagnosis using a population-based database from …

New Ionis Data Show Positive Trends In Clinical Measures Of Huntington's Disease Drug Trial Volunteers, Kenneth P. Serbin

At Risk for Huntington's Disease

No abstract provided.

Bilateral Facial Spasm Following Guillain-Barré Syndrome, Zain Guduru, John Morgan, Kapil Sethi

Neurology Faculty Publications

Background: We report a patient who developed lower facial muscle spasm at rest and bilateral facial synkinesis several months after treatment of Guillain–Barré syndrome (GBS); this finding, to our knowledge, is hitherto unreported.

Phenomenology Shown: Bilateral synkinesis, facial muscles spasm at rest, bilateral postparalytic facial syndrome.

Educational Value: Aberrant regeneration of nerve fibers post GBS, resulting in facial muscles spasm at rest, bilateral synkinesis.

Ethical Dilemma Of Alzheimer's Disease And Informed Consent, Daenia La Rodé

Augustana Center for the Study of Ethics Essay Contest

No abstract provided.

Nora Guthrie: We’Re All ‘Hoping Machines’ In The Fight Against Huntington's Disease, Kenneth P. Serbin

At Risk for Huntington's Disease

No abstract provided.

Motor Subtypes Of Parkinson’S Disease Can Be Identified By Frequency Component Of Postural Stability, Saba Rezvanian, Thurmon Lockhart, Christopher Frames, Rahul Soangra, Abraham Lieberman

Physical Therapy Faculty Articles and Research

Parkinson’s disease (PD) can be divided into two subtypes based on clinical features—namely tremor dominant (TD) and postural instability and gait difficulty (PIGD). This categorization is important at the early stage of PD, since identifying the subtypes can help to predict the clinical progression of the disease. Accordingly, correctly diagnosing subtypes is critical in initiating appropriate early interventions and tracking the progression of the disease. However, as the disease progresses, it becomes increasingly difficult to further distinguish those attributes that are relevant to the subtypes. In this study, we investigated whether a method using the standing center of pressure (COP) …

Neurotransmitter, Spring 2018, George Washington Institute For Neuroscience Neurological Institute, George Washington University Hospital

Neurotransmitter

No abstract provided.

Evaluation Of Group Movement Programs (Plié And Paired Plié) For People With Memory Loss, Alzheimer’S Disease Or Dementia, Martin Blanco, Deborah Barnes

GW Research Days 2016 - 2020

Today, one in ten people ages 65 and older have Alzheimer’s dementia. This serious condition often causes great suffering among affected individuals and their families, and there are no medications that stop or slow the disease. It is therefore important to evaluate alternative interventions that may benefit both patients and their care partners. Preventing Loss of Independence through Exercise (PLIÉ) and Paired PLIÉ are group movement programs that combine neuroscience and integrative medicine for individuals with dementia. We analyzed data from [N=39] anonymous evaluation surveys performed as part of two ongoing randomized control trials. Survey data included general questions on …

Comparison Of Existing Methods For Algorithmic Classification Of Dementia In The Health And Retirement Study, Kan Z. Gianattasio, Qiong Wu, M Maria Glymour, Melinda C. Power

GW Research Days 2016 - 2020

Background: Dementia ascertainment is difficult and costly, hindering the use of large, representative studies such as the Health and Retirement Study (HRS) to monitor trends or disparities in dementia. To address this issue, multiple groups of researchers have developed algorithms to classify dementia status in HRS participants using data from HRS and the Aging, Demographics, and Memory Study (ADAMS), an HRS sub-study that systematically ascertained dementia status. However, the relative performance of each algorithm has not been systematically evaluated.

Objective: To compare the performance of five existing algorithms, overall and by sociodemographic subgroups.

Methods: We created two standardized datasets: (a) …

Vascular Neurocognitive Disorders And The Vascular Risk Factors, Carmen V. Albu, Vlad Padureanu, Mihail V. Boldeanu, Ana M. Bumbea, Anca S. Enescu, Dana M. Albulescu, Cristian A. Silosi, Aurelia Enescu

Journal of Mind and Medical Sciences

Dementias are clinical neurodegenerative diseases characterized by permanent and progressive transformation of cognitive functions such as memory, learning capacity, attention, thinking, language, passing judgments, calculation or orientation. Dementias represent a relatively frequent pathology, encountered at about 10% of the population of 65-year olds and 20% of the population of 80-year olds.

This review presents the main etiological forms of dementia, which include Alzheimer form of dementia, vascular dementia, dementia associated with alpha-synucleionopathies, and mixed forms. Regarding vascular dementia, the risk factors are similar to those for an ischemic or hemorrhagic cerebrovascular accident: arterial hypertension, diabetes mellitus, dyslipidemia, smoking, obesity, age, …

Roche Gears Up For Pivotal Phase 3 Huntington’S Disease Gene-Slicing Clinical Trial, Kenneth P. Serbin

At Risk for Huntington's Disease

No abstract provided.

Variant Intestinal-Cell Kinase In Juvenile Myoclonic Epilepsy, J. N. Bailey, L. De Nijs, D. Bai, T. Suzuki, H. Miyamoto, M. Tanaka, C. Patterson, Y.-C. Lin, M. T. Medina, M. E. Alonso, J. M. Serratosa, R. M. Durón, Viet-Hong Nguyen, J. E. Wight, I. E. Martínez‑Juárez, A. Ochoa, A. Jara-Prado, L. Guilhoto, Y. Molina, E. M. Yacubian, M. López‑Ruiz, Y. Inoue, S. Kaneko, S. Hirose, M. Osawa, H. Oguni, S. Fujimoto, T. M. Grisar, J. M. Stern, K. Yamakawa, B. Lakaye, A. V. Delgado-Escueta

Pharmacy Faculty Articles and Research

BACKGROUND

In juvenile myoclonic epilepsy, data are limited on the genetic basis of networks promoting convulsions with diffuse polyspikes on electroencephalography (EEG) and the subtle microscopic brain dysplasia called microdysgenesis.

METHODS

Using Sanger sequencing, we sequenced the exomes of six members of a large family affected with juvenile myoclonic epilepsy and confirmed cosegregation in all 37 family members. We screened an additional 310 patients with this disorder for variants on DNA melting-curve analysis and targeted real-time DNA sequencing of the gene encoding intestinal-cell kinase (ICK). We calculated Bayesian logarithm of the odds (LOD) scores for cosegregating variants, odds …

In Chronicling The Quest To Cure Huntington’S Disease, A Whirlwind Of Emotions, Kenneth P. Serbin

At Risk for Huntington's Disease

No abstract provided.

Biomarkers Of Rehabilitation Therapy Vary According To Stroke Severity, Erin Burke Quinlan, Lucy Dodakian, Jill See, Alison Mckenzie, Jill Campbell Stewart, Steven C. Cramer

Physical Therapy Faculty Articles and Research

Biomarkers that capture treatment effects could improve the precision of clinical decision making for restorative therapies. We examined the performance of candidate structural, functional,and angiogenesis-related MRI biomarkers before and after a 3-week course of standardized robotic therapy in 18 patients with chronic stroke and hypothesized that results vary significantly according to stroke severity. Patients were 4.1 ± 1 months poststroke, with baseline arm Fugl-Meyer scores of 20–60. When all patients were examined together, no imaging measure changed over time in a manner that correlated with treatment-induced motor gains. However, when also considering the interaction with baseline motor status, treatment-induced motor …

Aging Exacerbates Development Of Cerebral Microbleeds In A Mouse Model, Rachita K. Sumbria, Mher Mahoney Grigoryan, Vitaly Vasilevko, Annlia Paganini-Hill, Kelley Kilday, Ronald Kim, David H. Cribbs, Mark J. Fisher

Pharmacy Faculty Articles and Research

Background: Cerebral microhemorrhages (CMH) are commonly found in the aging brain. CMH are also the neuropathological substrate of cerebral microbleeds (CMB), demonstrated on brain MRI. Recent studies demonstrate the importance of systemic inflammation in CMH development, but the relationships among inflammation, aging, and CMH development are not well-defined. In the current study, we hypothesized that the pathogenesis of inflammation-induced CMH in mice differs by age.

Methods: We studied young (3 months, n = 20) and old (18 months, n = 25) C57BL/6 mice injected with low-dose lipopolysaccharide (LPS; 1 mg/kg, i.p.) or saline at 0, 6, and 24 …

The Best News For The Huntington's Disease Community Since The Discovery Of The Gene: Ionis Trial Data Revealed, Roche Confirms Jump To Phase 3, Kenneth P. Serbin

At Risk for Huntington's Disease

No abstract provided.

Factors Associated With End-Of-Life Planning In Huntington Disease., Nancy R Downing, Siera Goodnight, Sena Chae, Joel S Perlmutter, Michael Mccormack, Elizabeth Hahn, Stacey K Barton, Noelle Carlozzi

Rowan-Virtua School of Osteopathic Medicine Departmental Research

OBJECTIVE: Knowledge of one's gene status for adult onset conditions provides opportunity to make advance end-of-life (EOL) plans. The purposes of these analyses were to (1) determine the prevalence of EOL plans, including advance directives (ADs) among persons across 3 stages of Huntington disease (HD) and (2) examine factors associated with having ADs in this sample.

METHODS: Data are from 503 participants in the HD Quality of Life study. Participants completed an online health-related quality-of-life survey that included questions regarding EOL planning and self-reported HD symptoms. Frequencies were calculated for EOL planning by the HD stage. Bivariate analysis and logistic …

Characterization Of The Roles Of Muscle-Synthesized Brain-Derived Neurotrophic Factor And Presynaptic Tyrosine Receptor Kinase B In Motor Neuron Axonal Transport, Luke A. Vanosdol

All NMU Master's Theses

Brain-derived neurotrophic factor (BDNF) is a small, diffusible protein essential for the development and function of neurons. It is synthesized by many types of tissue, including muscle. BDNF actions are mediated via binding to its receptor, tyrosine receptor kinase B (TrkB). The BDNF-TrkB complex is endocytosed into a specialized vesicle, which induces downstream signaling cascades locally in the dendrites, or, more often, is delivered to the cell soma via retrograde axonal transport, where it modulates gene expression. BDNF activation of TrkB is critical for the initiation of axonal transport, and this cellular process relies on the interaction of numerous adaptor …

Overflow Audience At 13th Annual Huntington's Disease Therapeutics Conference, Kenneth P. Serbin

At Risk for Huntington's Disease

No abstract provided.

Chdi's 13th Conference Promises Some Good News For The Huntington's Disease Community, Kenneth P. Serbin

At Risk for Huntington's Disease

No abstract provided.

Repeat-Associated Non-Aug (Ran) Translation And Other Molecular Mechanisms In Fragile X Tremor Ataxia Syndrome, M. Rebecca Glineburg, Peter K. Todd, Nicolas Charlet-Berguerand, Chantal Sellier

Biology, Chemistry, and Environmental Sciences Faculty Articles and Research

Fragile X-associated tremor/ataxia syndrome (FXTAS) is a late-onset inherited neurodegenerative disorder characterized by progressive intention tremor, gait ataxia and dementia associated with mild brain atrophy. The cause of FXTAS is a premutation expansion, of 55 to 200 CGG repeats localized within the 5′UTR of FMR1. These repeats are transcribed in the sense and antisense directions into mutants RNAs, which have increased expression in FXTAS. Furthermore, CGG sense and CCG antisense expanded repeats are translated into novel proteins despite their localization in putatively non-coding regions of the transcript. Here we focus on two proposed disease mechanisms for FXTAS: 1) RNA …

Faith In Each Other: Sticking Together Through The Challenges Of Huntington's Disease, Kenneth P. Serbin

At Risk for Huntington's Disease

No abstract provided.

Word-List Intrusion Errors Predict Progression To Mild Cognitive Impairment, Kelsey R Thomas, Joel Eppig, Emily C Edmonds, Diane M Jacobs, David J Libon, Rhoda Au, David P Salmon, Mark W Bondi, Alzheimer’S Disease Neuroimaging Initiative

Rowan-Virtua School of Osteopathic Medicine Departmental Research

OBJECTIVE: Preclinical Alzheimer's disease (AD) defined by a positive AD biomarker in the presence of normal cognition is presumed to precede mild cognitive impairment (MCI). Subtle cognitive deficits and cognitive inefficiencies in preclinical AD may be detected through process and error scores on neuropsychological tests in those at risk for progression to MCI.

METHOD: Cognitively normal participants (n = 525) from the Alzheimer's Disease Neuroimaging Initiative were followed for up to 5 years and classified as either stable normal (n = 305) or progressed to MCI (n = 220). Cox regressions were used to determine whether baseline process scores on …