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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 ...


Effect Of Levodopa-Carbidopa Intestinal Gel On Non-Motor Symptoms In Patients With Advanced Parkinson's Disease, David G. Standaert, Ramon L. Rodriguez, John T. Slevin, Michael Lobatz, Susan Eaton, Krai Chatamra, Maurizio F. Facheris, Coleen Hall, Kavita Sail, Yash J. Jalundhwala, Janet Benesh 2017 University of Alabama at Birmingham

Effect Of Levodopa-Carbidopa Intestinal Gel On Non-Motor Symptoms In Patients With Advanced Parkinson's Disease, David G. Standaert, Ramon L. Rodriguez, John T. Slevin, Michael Lobatz, Susan Eaton, Krai Chatamra, Maurizio F. Facheris, Coleen Hall, Kavita Sail, Yash J. Jalundhwala, Janet Benesh

Neurology Faculty Publications

Background: Levodopa-carbidopa intestinal gel (LCIG; carbidopa-levodopa enteral suspension in the United States), delivered via percutaneous gastrojejunostomy (PEG-J) and titrated in the inpatient setting, is an established treatment option for advanced Parkinson's disease (PD) patients with motor fluctuations. However, long-term prospective data on the efficacy of LCIG on non-motor symptoms and the safety of outpatient titration are limited.

Methods: In this 60-week, open-label phase 3b study, LCIG titration was initiated in an outpatient setting following PEG-J placement in PD patients. The efficacy of LCIG on motor and non-motor symptoms, quality of life, and safety was assessed.

Results: Thirty-nine patients were ...


Lipidomic Evaluation Of Feline Neurologic Disease After Aav Gene Therapy, Heather L. Gray-Edwards, Xuntian Jiang, Ashley N. Randle, Amanda R. Taylor, Taylor L. Voss, Aime K. Johnson, Victoria J. McCurdy, Miguel Sena-Esteves, Daniel S. Ory, Douglas R. Martin 2017 Auburn University

Lipidomic Evaluation Of Feline Neurologic Disease After Aav Gene Therapy, Heather L. Gray-Edwards, Xuntian Jiang, Ashley N. Randle, Amanda R. Taylor, Taylor L. Voss, Aime K. Johnson, Victoria J. Mccurdy, Miguel Sena-Esteves, Daniel S. Ory, Douglas R. Martin

Open Access Articles

GM1 gangliosidosis is a fatal lysosomal disorder, for which there is no effective treatment. Adeno-associated virus (AAV) gene therapy in GM1 cats has resulted in a greater than 6-fold increase in lifespan, with many cats remaining alive at > 5.7 years of age, with minimal clinical signs. Glycolipids are the principal storage product in GM1 gangliosidosis whose pathogenic mechanism is not completely understood. Targeted lipidomics analysis was performed to better define disease mechanisms and identify markers of disease progression for upcoming clinical trials in humans. 36 sphingolipids and subspecies associated with ganglioside biosynthesis were tested in the cerebrospinal fluid of ...


Microglia In Alzheimer's Disease, Heela Sarlus, Michael T. Heneka 2017 University of Bonn

Microglia In Alzheimer's Disease, Heela Sarlus, Michael T. Heneka

Open Access Articles

Microglia are brain-resident myeloid cells that mediate key functions to support the CNS. Microglia express a wide range of receptors that act as molecular sensors, which recognize exogenous or endogenous CNS insults and initiate an immune response. In addition to their classical immune cell function, microglia act as guardians of the brain by promoting phagocytic clearance and providing trophic support to ensure tissue repair and maintain cerebral homeostasis. Conditions associated with loss of homeostasis or tissue changes induce several dynamic microglial processes, including changes of cellular morphology, surface phenotype, secretory mediators, and proliferative responses (referred to as an "activated state ...


Intracerebral Hemorrhage After Iv Tpa For Stroke As Early Symptom Of Anca-Associated Vasculitis, Neda Zarghami Esfahani, Daniel M Anderson, Connie Pieper, Harold P Adams Jr 2017 University of Iowa

Intracerebral Hemorrhage After Iv Tpa For Stroke As Early Symptom Of Anca-Associated Vasculitis, Neda Zarghami Esfahani, Daniel M Anderson, Connie Pieper, Harold P Adams Jr

Department of Neurology Publications

Anti-neutrophil cytoplasmic antibody (ANCA)-associated vasculitides (AAV) are rare diseases characterized by a necrotizing small-vessel vasculitis and circulating ANCA that comprise granulomatosis with polyangiitis, microscopic polyangiitis, and eosinophilic granulomatosis with polyangiitis (EGPA). Acute ischemic stroke (AIS) can be a manifestation of central nervous system (CNS) involvement in these diseases. Furthermore, intracerebral hemorrhage (ICH) is a potential complication of these necrotizing vasculitides. We describe a case of AAV who presented with acute ischemic stroke and developed multiple ICHs after administration of IV tPA. We propose that patients with AAV are more prone to develop hemorrhage in the presence of IV tPA ...


Application Of Rns In Refractory Epilepsy: Targeting Insula., Hai Chen, Patricia Dugan, Derek J Chong, Anli Liu, Werner Doyle, Daniel Friedman 2017 George Washington University

Application Of Rns In Refractory Epilepsy: Targeting Insula., Hai Chen, Patricia Dugan, Derek J Chong, Anli Liu, Werner Doyle, Daniel Friedman

Neurology Faculty Publications

Although responsive neurostimulation (RNS) is approved for treatment of resistant focal epilepsy in adults, little is known about response to treatment of specific cortical targets. We describe the experience of RNS targeting the insular lobe. We identified patients who had RNS implantation with at least one electrode within the insula between April 2014 and October 2015. We performed a retrospective review of preoperative clinical features, imaging, electrocardiogram (EEG), intraoperative electrocorticography (ECoG), and postoperative seizure outcome. Eight patients with at least 6 months of postimplant follow-up were identified. Ictal localization was inconclusive with MRI or scalp EEG findings. Intracranial EEG monitoring ...


Reframing Outcome Measures For Thrombolytics In Acute Ischemic Stroke, Brandon Baker, Charles W. Kropf, Nicholus Yee, James Peter Meza 2017 DMC-Sinai Grace Hospital Emergency Medicine Residency

Reframing Outcome Measures For Thrombolytics In Acute Ischemic Stroke, Brandon Baker, Charles W. Kropf, Nicholus Yee, James Peter Meza

Clinical Research in Practice: The Journal of Team Hippocrates

An informed consent conversation examining relevant research and discussing the potential benefits and harms of thrombolytic therapy in acute stroke.


Brain Networks In People After A First Unprovoked Seizure, Kristin M. Ikeda 2017 The University of Western Ontario

Brain Networks In People After A First Unprovoked Seizure, Kristin M. Ikeda

Electronic Thesis and Dissertation Repository

Background: A single unprovoked seizure occurs in up to 10% of the population. Some develop epilepsy, but the majority do not. Brain network changes are observed in people with epilepsy, but it is unknown if they are present after this first seizure. This study examines network connectivity after the first seizure to determine if any changes exist.

Methods: Twelve patients after a single unprovoked seizure and twelve age- and sex-matched healthy controls were recruited. All underwent 7T resting-state fMRI scanning. Whole brain and limbic, default mode and salience network connectivity were analyzed with graph theory.

Results: Baseline characteristics were similar ...


Autoantibodies As Diagnostic Biomarkers For The Detection And Subtyping Of Multiple Sclerosis, Cassandra DeMarshall, Eric Goldwaser, Abhirup Sarkar, George Godsey, Nimish Acharya, Umashanger Thayasivam, Benjamin Belinka, Robert Nagele 2017 Rowan University School of Osteopathic Medicine

Autoantibodies As Diagnostic Biomarkers For The Detection And Subtyping Of Multiple Sclerosis, Cassandra Demarshall, Eric Goldwaser, Abhirup Sarkar, George Godsey, Nimish Acharya, Umashanger Thayasivam, Benjamin Belinka, Robert Nagele

School of Osteopathic Medicine Faculty Scholarship

The goal of this preliminary proof-of-concept study was to use human protein microarrays to identify blood-based autoantibody biomarkers capable of diagnosing multiple sclerosis (MS). Using sera from 112 subjects, including 51 MS subjects, autoantibody biomarkers effectively differentiated MS subjects from age- and gender-matched normal and breast cancer controls with 95.0% and 100% overall accuracy, but not from subjects with Parkinson's disease. Autoantibody biomarkers were also useful in distinguishing subjects with the relapsing-remitting form of MS from those with the secondary progressive subtype. These results demonstrate that autoantibodies can be used as noninvasive blood-based biomarkers for the detection and ...


Endothelin Receptor-Mediated Neurodegeneration In Glaucoma, Nolan McGrady 2017 University of North Texas Health Science Center at Fort Worth

Endothelin Receptor-Mediated Neurodegeneration In Glaucoma, Nolan Mcgrady

Theses and Dissertations

Primary open-angle glaucoma (POAG) is a complex set of optic neuropathies which are characterized by the degeneration of the optic nerve, cupping of the optic disk and loss of retinal ganglion cells (RGCs). There are approximately 3 million Americans who currently suffer from this disease although this is most likely an underestimation since many individuals with glaucoma are unaware that they have the disease. POAG is an age-related disease progressing slowly over the course of several decades and is most commonly associated with an elevation in intraocular pressure (IOP). Currently available treatments for glaucoma, both surgical and pharmacological, are solely ...


Novel Androgen Receptor Splice Variant In The Substantia Nigra, Jo Garza Contreras 2017 University of North Texas Health Science Center at Fort Worth

Novel Androgen Receptor Splice Variant In The Substantia Nigra, Jo Garza Contreras

Theses and Dissertations

Testosterone can increase calcium influx and cell death in dopamine neurons via a putative membrane androgen receptor (mAR). The mAR induced calcium increase may be due to activation of G-proteins involved in calcium mobilization. Previous studies using an N-terminal targeted androgen receptor (AR) antibody yielded low AR expression in dopamine neurons. Studies in our lab show high AR expression using a C-terminal targeted AR antibody. This difference in expression may be due to an AR variant.

We hypothesize an AR variant is present in the membrane of dopaminergic neurons and associated with G proteins.

To identify the presence of AR ...


(Ccug)N Rna Toxicity In A Drosophila Model Of Myotonic Dystrophy Type 2 (Dm2) Activates Apoptosis, Vildan Betul Yenigun, Mario Sirito, Alla Amcheslavsky, Tomek Czernuszewicz, Jordi Colonques-Bellmunt, Irma Garcia-Alcover, Marzena Wojciechowska, Clare Bolduc, Zhihong Chen, Arturo Lopez Castel, Ralf Krahe, Andreas Bergmann 2017 University of Texas

(Ccug)N Rna Toxicity In A Drosophila Model Of Myotonic Dystrophy Type 2 (Dm2) Activates Apoptosis, Vildan Betul Yenigun, Mario Sirito, Alla Amcheslavsky, Tomek Czernuszewicz, Jordi Colonques-Bellmunt, Irma Garcia-Alcover, Marzena Wojciechowska, Clare Bolduc, Zhihong Chen, Arturo Lopez Castel, Ralf Krahe, Andreas Bergmann

Open Access Articles

The myotonic dystrophies are prototypic toxic RNA gain-of-function diseases. Myotonic dystrophy type 1 (DM1) and type 2 (DM2) are caused by different unstable, noncoding microsatellite repeat expansions - (CTG)DM1 in DMPK and (CCTG)DM2 in CNBP Although transcription of mutant repeats into (CUG)DM1 or (CCUG)DM2 appears to be necessary and sufficient to cause disease, their pathomechanisms remain incompletely understood. To study the mechanisms of (CCUG)DM2 toxicity and develop a convenient model for drug screening, we generated a transgenic DM2 model in the fruit fly Drosophila melanogaster with (CCUG)n repeats of variable length (n=16 and 106 ...


The Lysosomal Protein Cathepsin L Is A Progranulin Protease, Chris W. Lee, Jeannette N. Stankowski, Jeannie Chew, Casey N. Cook, Ying-Wai Lam, Sandra Almeida, Yari Carlomagno, Kwok-Fai Lau, Mercedes Prudencio, Fen-Biao Gao, Matthew Bogyo, Dennis W. Dickson, Leonard Petrucelli 2017 Mayo Clinic

The Lysosomal Protein Cathepsin L Is A Progranulin Protease, Chris W. Lee, Jeannette N. Stankowski, Jeannie Chew, Casey N. Cook, Ying-Wai Lam, Sandra Almeida, Yari Carlomagno, Kwok-Fai Lau, Mercedes Prudencio, Fen-Biao Gao, Matthew Bogyo, Dennis W. Dickson, Leonard Petrucelli

Open Access Articles

Haploinsufficiency of GRN, the gene encoding progranulin (PGRN), causes frontotemporal lobar degeneration (FTLD), the second most common cause of early-onset dementia. Receptor-mediated lysosomal targeting has been shown to regulate brain PGRN levels, and complete deficiency of PGRN is a direct cause of neuronal ceroid lipofuscinosis (NCL), a lysosomal storage disease. Here we show that the lysosomal cysteine protease cathepsin L (Cat L) can mediate the proteolytic cleavage of intracellular PGRN into poly-granulin and granulin fragments. Further, PGRN and Cat L co-localize in lysosomes of HEK293 cells, iPSC-derived neurons and human cortical neurons from human postmortem tissue. These data identify Cat ...


“Can’T You Just Say?” – Contrasting Communication Preferences Between Surrogate Decision-Makers And Physicians During Outcome Prognostication In Critically-Ill Traumatic Brain Injury Patients, Thomas Quinn, Jesse Moskowitz, Muhammad Khan, Lori Shutter, Robert J. Goldberg, Nananda Col, Kathleen M. Mazor, Susanne Muehlschlegel 2017 University of Massachusetts Medical School

“Can’T You Just Say?” – Contrasting Communication Preferences Between Surrogate Decision-Makers And Physicians During Outcome Prognostication In Critically-Ill Traumatic Brain Injury Patients, Thomas Quinn, Jesse Moskowitz, Muhammad Khan, Lori Shutter, Robert J. Goldberg, Nananda Col, Kathleen M. Mazor, Susanne Muehlschlegel

Kathleen M. Mazor

Objective: Surrogate decision-makers (“surrogates”) and physicians of incapacitated patients have different views of prognosis and how it should be communicated, but this has not been investigated in neurocritically-ill patients. We examined communication preferences in surrogates and physician practices during the outcome prognostication for critically-ill traumatic brain injury (ciTBI) patients in neuroICUs.

Design: Qualitative study using in-person semi-structured interviews with surrogates of ciTBI patients and physicians with expertise in TBI.

Setting: Two neuroICUs at two level-1 trauma centers (surrogates); seven academic U.S. medical centers (physicians).

Subjects: Sixteen surrogates for 15 ciTBI patients and 20 attending physicians from neurocritical care, neurosurgery ...


Variable Knowledge, Use And Perceptions Of The Impact Model Among Physicians During Prognostication Meetings For Critically-Ill Traumatic Brain Injury Patients – Results From A Qualitative Study, Jesse Moskowitz, Thomas Quinn, Muhammad Khan, Lori Shutter, Robert J. Goldberg, Nananda Col, Kathleen M. Mazor, Susanne Muehlschlegel 2017 University of Massachusetts Medical School

Variable Knowledge, Use And Perceptions Of The Impact Model Among Physicians During Prognostication Meetings For Critically-Ill Traumatic Brain Injury Patients – Results From A Qualitative Study, Jesse Moskowitz, Thomas Quinn, Muhammad Khan, Lori Shutter, Robert J. Goldberg, Nananda Col, Kathleen M. Mazor, Susanne Muehlschlegel

Kathleen M. Mazor

Introduction: The International Patient Decision Aid Standards, a framework for the creation of high-quality decision aids, calls for the presentation of probabilities. To inform the content of a goals-of-care decision aid in critically-ill TBI (ciTBI) patients, we examined physician’s awareness, perceptions, and use of the IMPACT-model, the most widely validated ciTBI outcome model, and explored their preferences for communicating prognostic information towards families.

Methods: We conducted a qualitative study using semi-structured interviews in 20 attending physicians (neurocritical care, neurosurgery, trauma, palliative care) at 7 U.S. academic medical centers. We used descriptive statistics and performed qualitative content analysis of ...


Alzheimer’S Disease: Dawn Of A New Era?, Farideh Amirrad, Emira Bousoik, Kiumars Shamloo, Hassan Al-Shiyab, Viet-Hong Nguyen, Hamidreza Montazeri Aliabadi 2017 Chapman University

Alzheimer’S Disease: Dawn Of A New Era?, Farideh Amirrad, Emira Bousoik, Kiumars Shamloo, Hassan Al-Shiyab, Viet-Hong Nguyen, Hamidreza Montazeri Aliabadi

Pharmacy Faculty Articles and Research

Alzheimer’s disease (AD) is an irreversible neurodegenerative disease characterized by a progressive decline in cognition and memory, leading to significant impairment in daily activities and ultimately death. It is the most common cause of dementia, the prevalence of which increases with age; however, age is not the only predisposing factor. The pathology of this cognitive impairing disease is still not completely understood, which has limited the development of valid therapeutic options. Recent years have witnessed a wide range of novel approaches to combat this disease, so that they greatly increased our understanding of the disease and of the unique ...


Alternative Interventions For Children Coping With Chronic Conditions: A Critical Review Of The Literature, Nina M. Pelsi, Kim S. Amer 2017 DePaul University

Alternative Interventions For Children Coping With Chronic Conditions: A Critical Review Of The Literature, Nina M. Pelsi, Kim S. Amer

DePaul Discoveries

Reduction of stressors and anxiety levels in adolescents with chronic illnesses is a critical concept in pediatric health care in America today. The many stressors associated with chronic illness include displaying physical and mental differences, social stigma, financial difficulty, and family stress. These stressors may affect the adolescent’s ability to learn and cope in everyday life. The current research was a critical review of the literature examining studies done with adolescents coping with chronic diseases and illnesses. The aim was to analyze the most efficacious non-pharmacological methods for reducing stressors in adolescents with chronic illness. A critical review of ...


Neurotransmitter, Summer 2017, George Washington Institute for Neuroscience Neurological Institute, George Washington University Hospital 2017 Himmelfarb Health Sciences Library, The George Washington University

Neurotransmitter, Summer 2017, George Washington Institute For Neuroscience Neurological Institute, George Washington University Hospital

Neurotransmitter

No abstract provided.


Praja Is Overexpressed In Glioblastoma And Contributes To Neural Precursor Development, Joshua Shin, Viveka Mishra, Eric Glasgow, Sobia Zaidi, Kazufumi Ohshiro, Lopa Mishra, Shuyun Rao, +several additional authors 2017 George Washington University

Praja Is Overexpressed In Glioblastoma And Contributes To Neural Precursor Development, Joshua Shin, Viveka Mishra, Eric Glasgow, Sobia Zaidi, Kazufumi Ohshiro, Lopa Mishra, Shuyun Rao, +Several Additional Authors

Medicine Faculty Publications

PRAJA, a RING-H2 E3 ligase, is abundantly expressed in brain tissues such as the cerebellum and frontal cortex, amongst others, and more specifically in neural progenitor cells as well as in multiple cancers that include glioblastomas. However, the specific role that Praja plays in neural development and gliomas remains unclear. In this investigation, we performed bioinformatic analyses to examine Praja1 and Praja2 expression across 29 cancer types, and observed raised levels of Praja1 and Praja2 in gliomas with an inverse relationship between Praja1 and apoptotic genes and Praja substrates such as Smad3. We analyzed the role of Praja in the ...


A Defect In Myoblast Fusion Underlies Carey-Fineman-Ziter Syndrome, S DiGioia, S Connors, N. Matsunami, J Cannavino, M Rose, N Gillette, Andrea Gropman, +several additional authors 2017 George Washington University

A Defect In Myoblast Fusion Underlies Carey-Fineman-Ziter Syndrome, S Digioia, S Connors, N. Matsunami, J Cannavino, M Rose, N Gillette, Andrea Gropman, +Several Additional Authors

Neurology Faculty Publications

Multinucleate cellular syncytial formation is a hallmark of skeletal muscle differentiation. Myomaker, encoded by Mymk (Tmem8c), is a well-conserved plasma membrane protein required for myoblast fusion to form multinucleated myotubes in mouse, chick, and zebrafish. Here, we report that autosomal recessive mutations in MYMK (OMIM 615345) cause Carey-Fineman-Ziter syndrome in humans (CFZS; OMIM 254940) by reducing but not eliminating MYMK function. We characterize MYMK-CFZS as a congenital myopathy with marked facial weakness and additional clinical and pathologic features that distinguish it from other congenital neuromuscular syndromes. We show that a heterologous cell fusion assay in vitro and allelic complementation ...


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