Neurology Commons^™

Bilateral Acute Ocular Ischemic Syndrome Following Head And Neck Radiation, Dipali Nemade, Paul Ferguson, Vikram Shivkumar, Dennis Cole

Marshall Journal of Medicine

Previous literature has established a clear correlation between radiation therapy (RT) to the head and neck leading to aggressive atherosclerosis of the carotid arteries and subsequent increased risk for ischemic stroke. Stenosis of carotid arteries can lead to Ocular Ischemic syndrome (OIS). We present a case of acute bilateral OIS following head and neck RT for left tonsillar squamous cell carcinoma (SCC) in a 64 year-old Caucasian male. Routine large vessel cerebrovascular screening following head and neck radiotherapy should be considered as a means of potentially mitigating future stroke risk through initiation of medical therapy and interventional modalities as a ...

Multidisciplinary Care In Motor Neuron Disease, Sara Khan

Pakistan Journal of Neurological Sciences (PJNS)

Motor neuron disease (MND) is a progressive degenerative disorder of the motor neurons, resulting in progressive limb, bulbar and respiratory muscle weakness. No definitive disease modifying treatment is available at this time. The mainstay of management remains multidisciplinary care, which has shown to improve quality of life, prevents complications and may also increase life span. In this review, different medical specialties necessary to offer complete multidisciplinary care are discussed. Symptomatic management of individual symptoms commonly experienced by patients with MND is elaborated on.

The Epidemiology Of Stroke In A Developing Country (Pakistan), M Ishaq Khan, Junaid I. Khan, Sheikh I. Ahmed, Sajjad Ali

Pakistan Journal of Neurological Sciences (PJNS)

Ischemic stroke is a major cause of neurological morbidity and mortality. The objective of this review article is to summarize facts pertaining to acute ischemic stroke and its various aspects in a developing country like Pakistan, where resources are limited and the healthcare system is underdeveloped. No large-scale epidemiological studies are available to determine the true incidence of stroke in Pakistan. We conducted a study to determine the prevalence of several important stroke risk factors among Pakistani stroke patients, and to determine whether these risk factors differ among urban versus rural populations. We also used existing data from literature to ...

Hemispheric Regional Based Analysis Of Diffusion Tensor Imaging And Diffusion Tensor Tractography In Patients With Temporal Lobe Epilepsy And Correlation With Patient Outcomes., Mahdi Alizadeh, Lauren Kozlowski, Jennifer Muller, Neha Ashraf, Shiva Shahrampour, Feroze B. Mohamed, Chengyuan Wu, Ashwini Sharan

Department of Neurosurgery Faculty Papers

Imaging in the field of epilepsy surgery remains an essential tool in terms of its ability to identify regions where the seizure focus might present as a resectable area. However, in many instances, an obvious structural abnormality is not visualized. This has created the opportunity for new approaches and imaging innovation in the field of epilepsy, such as with Diffusion Tensor Imaging (DTI) and Diffusion Tensor Tractography (DTT). In this study, we aim to evaluate the use of DTI and DTT as a predictive model in the field of epilepsy, specifically Temporal Lobe Epilepsy (TLE), and correlate their clinical significance ...

Quantitative Clinical And Autoimmune Assessments In Stiff Person Syndrome: Evidence For A Progressive Disorder., Goran Rakocevic, Harry Alexopoulos, Marinos C. Dalakas

Department of Neurology Faculty Papers

BACKGROUND: Stiff Person Syndrome (SPS) is an under-diagnosed disorder that affects mobility and the quality of life of affected patients. The aim of the study is to describe the natural history of SPS, the extent of accumulated disability and the associated clinical and immunological features in patients followed for up to 8 years in a single center.

METHODS: Our collective cohort included 57 SPS patients. Additionally, 32 of these patients were examined every 6 months for a two-year period in a longitudinal study protocol, to assess disease progression using quantitative measures of stiffness and heightened sensitivity.

RESULTS: The most frequent ...

Down Syndrome Associated Moyamoya May Worsen Epilepsy Control And Can Benefit From Surgical Revascularization., Sarah R Garson, Stephen J Monteith, Sheila D Smith, Bart P Keogh, Ryder P Gwinn, Michael J Doherty

Journal Articles and Abstracts

Objectives: To examine outcome of bilateral extracranial to intracranial (EC-IC) bypass surgeries for a Down syndrome patient with hard-to-treat epilepsy and moyamoya.

Materials and methods: Superficial temporal arteries were anastamosed using an indirect bypass technique to middle cerebral arteries bilaterally to help limit perfusion deficits and seizure controls.

Results: Two superficial temporal to middle cerebral artery indirect bypass surgeries were performed within 3 months. Post-revascularization improvements included seizure control, gait, perfusion, wakefulness, language and quality of life.

Conclusion: In patients with Down syndrome and moyamoya, improvements in seizure control and quality of life may occur with EC-IC bypass procedures.

Genome-Wide Mega-Analysis Identifies 16 Loci And Highlights Diverse Biological Mechanisms In The Common Epilepsies., Bassel Abou-Khalil, Pauls Auce, Andreja Avbersek, Melanie Bahlo, David J. Balding, Thomas Bast, Larry Baum, Albert J. Becker, Felicitas Becker, Bianca Berghuis, Samuel F. Berkovic, Katja E. Boysen, Jonathan P. Bradfield, Lawrence C. Brody, Russell J. Buono, Ellen Campbell, Gregory D. Cascino, Claudia B. Catarino, Gianpiero L. Cavalleri, Stacey S. Cherny, Krishna Chinthapalli, Alison J. Coffey, Alastair Compston, Antonietta Coppola, Patrick Cossette, John J. Craig, Gerrit-Jan De Haan, Peter De Jonghe, Carolien G.F. De Kovel, Norman Delanty, Chantal Depondt, Orrin Devinsky, Dennis J. Dlugos, Colin P. Doherty, Christian E. Elger, Johan G. Eriksson, Thomas N. Ferraro, Martha Feuch, Ben Francis, Andre Franke, Jacqueline A. French, Saskia Freytag, Verena Gaus, Eric B. Geller, Christian Gieger, Tracy Glauser, Simon Glynn, David B. Goldstein, Hongsheng Gui, Youling Guo, Kevin F. Haas, Hakon Hakonarson, Kerstin Hallmann, Sheryl Haut, Erin L. Heinzen, Ingo Helbig, Christian Hengsbach, Helle Hjalgrim, Michele Iacomino, Andrés Ingason, Jennifer Jamnadas-Khoda, Michael R. Johnson, Reetta Kälviäinen, Anne-Mari Kantanen, Dalia Kasperavičiūte, Dorothee Kasteleijn-Nolst Trenite, Heidi E. Kirsch, Robert C. Knowlton, Bobby P.C. Koeleman, Roland Krause, Martin Krenn, Wolfram S. Kunz, Ruben Kuzniecky, Patrick Kwan, Dennis Lal, Yu-Lung Lau, Anna-Elina Lehesjoki, Holger Lerche, Costin Leu, Wolfgang Lieb, Dick Lindhout, Warren D. Lo, Iscia Lopes-Cendes, Daniel H. Lowenstein, Alberto Malovini, Anthony G. Marson, Thomas Mayer, Mark Mccormack, James L. Mills, Nasir Mirza, Martina Moerzinger, Rikke S. Møller, Anne M. Molloy, Hiltrud Muhle, Mark Newton, Ping-Wing Ng, Markus M. Nöthen, Peter Nürnberg, Terence J. O’Brien, Karen L. Oliver, Palotie Palotie, Faith Pangilinan, Sarah Peter, Slavé Petrovski, Annapurna Poduri, Michael Privitera, Rodney Radtke, Sarah Rau, Philipp S. Reif, Eva M. Reinthaler, Felix Rosenow, Josemir W. Sander, Thomas Sander, Theresa Scattergood, Steven C. Schachter, Christoph J. Schankin, Ingrid E. Scheffer, Bettina Schmitz, Susanne Schoch, Pak C. Sham, Jerry J. Shih, Graeme J. Sills, Sanjay M. Sisodiya, Lisa Slattery, Alexander Smith, David F. Smith, Michael C. Smith, Philip E. Smith, Anja C.M. Sonsma, Doug Speed, Michael R. Sperling, Bernhard J. Steinhoff, Ulrich Stephani, Remi Stevelink, Konstantin Strauch, Pasquale Striano, Hans Stroink, Rainer Surges, K. Meng Tan, Liu Lin Thio, G. Neil Thomas, Marian Todaro, Rossana Tozzi, Maria S. Vari, Ellen P.G. Vining, Frank Visscher, Sarah Von Spiczak, Nicole M. Walley, Yvonne G. Weber, Zhi Wei, Judith Weisenberg, Christopher D. Whelan, Peter Widdess-Walsh, Markus Wolff, Wolking Wolking, Wanling Yang, Federico Zara, Fritz Zimprich

Department of Neurology Faculty Papers

The epilepsies affect around 65 million people worldwide and have a substantial missing heritability component. We report a genome-wide mega-analysis involving 15,212 individuals with epilepsy and 29,677 controls, which reveals 16 genome-wide significant loci, of which 11 are novel. Using various prioritization criteria, we pinpoint the 21 most likely epilepsy genes at these loci, with the majority in genetic generalized epilepsies. These genes have diverse biological functions, including coding for ion-channel subunits, transcription factors and a vitamin-B6 metabolism enzyme. Converging evidence shows that the common variants associated with epilepsy play a role in epigenetic regulation of gene expression ...

Trisomy Silencing By Xist Normalizes Down Syndrome Cell Pathogenesis Demonstrated For Hematopoietic Defects In Vitro, Jen-Chieh Chiang, Jun Jiang, Peter E. Newburger, Jeanne B. Lawrence

Open Access Articles

We previously demonstrated that an integrated XIST transgene can broadly repress one chromosome 21 in Down syndrome (DS) pluripotent cells. Here we address whether trisomy-silencing can normalize cell function and development sufficiently to correct cell pathogenesis, tested in an in vitro model of human fetal hematopoiesis, for which DS cellular phenotypes are best known. XIST induction in four transgenic clones reproducibly corrected over-production of megakaryocytes and erythrocytes, key to DS myeloproliferative disorder and leukemia. A contrasting increase in neural stem and iPS cells shows cell-type specificity, supporting this approach successfully rebalances the hematopoietic developmental program. Given this, we next used ...

Levels Of Par-1 Kinase Determine The Localization Of Bruchpilot At The Drosophila Neuromuscular Junction Synapses., Kara R. Barber, Martin Hruska, Keegan M. Bush, Jade A. Martinez, Hong Fei, Irwin B. Levitan, Matthew B. Dalva, Yogesh P. Wairkar

Farber Institute for Neurosciences Faculty Papers

Functional synaptic networks are compromised in many neurodevelopmental and neurodegenerative diseases. While the mechanisms of axonal transport and localization of synaptic vesicles and mitochondria are relatively well studied, little is known about the mechanisms that regulate the localization of proteins that localize to active zones. Recent finding suggests that mechanisms involved in transporting proteins destined to active zones are distinct from those that transport synaptic vesicles or mitochondria. Here we report that localization of BRP-an essential active zone scaffolding protein in Drosophila, depends on the precise balance of neuronal Par-1 kinase. Disruption of Par-1 levels leads to excess accumulation of ...

Medial Temporal Lobe Functional Connectivity Predicts Stimulation-Induced Theta Power., E. A. Solomon, J. E. Kragel, R. Gross, B. Lega, M. R. Sperling, G. Worrell, S. A. Sheth, K. A. Zaghloul, B. C. Jobst, J. M. Stein, S. Das, R. Gorniak, C. S. Inman, S. Seger, D. S. Rizzuto, M. J. Kahana

Department of Neurology Faculty Papers

Focal electrical stimulation of the brain incites a cascade of neural activity that propagates from the stimulated region to both nearby and remote areas, offering the potential to control the activity of brain networks. Understanding how exogenous electrical signals perturb such networks in humans is key to its clinical translation. To investigate this, we applied electrical stimulation to subregions of the medial temporal lobe in 26 neurosurgical patients fitted with indwelling electrodes. Networks of low-frequency (5-13 Hz) spectral coherence predicted stimulation-evoked increases in theta (5-8 Hz) power, particularly when stimulation was applied in or adjacent to white matter. Stimulation tended ...

The Ratio Of Observed To Expected: How Much Of It Is Unexpected?, Jens R Chapman, Karsten Wiechert, Jeffrey C Wang

Journal Articles and Abstracts

No abstract provided.

The Sin Of Missing Data: Is All Forgiven By Way Of Imputation?, Joseph R Dettori, Daniel C Norvell, Jens R Chapman

Journal Articles and Abstracts

No abstract provided.

Improving Efficiency In Neuroimaging Research Through Application Of Lean Principles, Alexandra Roy, Julia Colpitts, Kara Becker, Judson A. Brewer, Remko Van Lutterveld

Open Access Articles

INTRODUCTION: "Lean" is a set of management principles which focus on increasing value and efficiency by reducing or avoiding waste (e.g., overproduction, defects, inventory, transportation, waiting, motion, over processing). It has been applied to manufacturing, education, and health care, leading to optimized process flow, increased efficiency and increased team empowerment. However, to date, it has not been applied to neuroimaging research.

METHODS: Lean principles, such as Value stream mapping (e.g. a tool with which steps in the workflow can be identified on which to focus improvement efforts), 5S (e.g. an organizational method to boost workplace efficiency and ...

Distinct Role Of Il-27 In Immature And Lps-Induced Mature Dendritic Cell-Mediated Development Of Cd4, Fang Zhou, Guang-Xian Zhang, A. M. Rostami

Department of Neurology Faculty Papers

Interleukin-27 (IL-27) plays an important role in regulation of anti-inflammatory responses and autoimmunity; however, the molecular mechanisms of IL-27 in modulation of immune tolerance and autoimmunity have not been fully elucidated. Dendritic cells (DCs) play a central role in regulating immune responses mediated by innate and adaptive immune systems, but regulatory mechanisms of DCs in CD4⁺ T cell-mediated immune responses have not yet been elucidated. Here we show that IL-27 treated mature DCs induced by LPS inhibit immune tolerance mediated by LPS-stimulated DCs. IL-27 treatment facilitates development of the CD4⁺ CD127⁺3G11⁺ regulatory T cell subset in vitro and in ...

Pornography’S Effect On The Brain: A Review Of Modifications In The Prefrontal Cortex, Kendra J. Muller

Intuition: The BYU Undergraduate Journal in Psychology

Pornography use has exponentially increased in the past 10 years. Most believe pornography use is largely a harmless behavior. Although sexuality is innate, hyper-sexual behavior, such as pornography use, has become increasingly commonplace. Addiction research has found that long-term substance addiction contributes to changes in brain volume (Hong et al., 2013; Zhou et al., 2011). Recent studies have shown that behavioral addictions also have similar volume loss as substance abuse (Hong et al., 2013). Research has shown that the particular area most affected is the prefrontal cortex (Hong et al., 2013). The prefrontal cortex, which oversees regulating self-control, decreases in ...

Epigenetic Profiling For The Molecular Classification Of Metastatic Brain Tumors., Javier I Orozco, Theo A Knijnenburg, Ayla O Manughian-Peter, Matthew P Salomon, Garni Barkhoudarian, John R Jalas, James S Wilmott, Parvinder Hothi, Xiaowen Wang, Yuki Takasumi, Michael E Buckland, John F Thompson, Georgina V Long, Charles S Cobbs, Ilya Shmulevich, Daniel F Kelly, Richard A Scolyer, Dave S B Hoon, Diego M Marzese

Journal Articles and Abstracts

Optimal treatment of brain metastases is often hindered by limitations in diagnostic capabilities. To meet this challenge, here we profile DNA methylomes of the three most frequent types of brain metastases: melanoma, breast, and lung cancers (n = 96). Using supervised machine learning and integration of DNA methylomes from normal, primary, and metastatic tumor specimens (n = 1860), we unravel epigenetic signatures specific to each type of metastatic brain tumor and constructed a three-step DNA methylation-based classifier (BrainMETH) that categorizes brain metastases according to the tissue of origin and therapeutically relevant subtypes. BrainMETH predictions are supported by routine histopathologic evaluation. We further ...

Brain Metastasis Dna Methylomes, A Novel Resource For The Identification Of Biological And Clinical Features., Matthew P Salomon, Javier I J Orozco, James S Wilmott, Parvinder Hothi, Ayla O Manughian-Peter, C Cobbs, Richard A Scolyer, Dave S B Hoon, Diego M Marzese

Journal Articles and Abstracts

Brain metastases (BM) are one the most lethal and poorly managed clinical complications in cancer patients. These secondary tumors represent the most common intracranial neoplasm in adults, most frequently originating from lung cancer, breast cancer, and cutaneous melanoma. In primary brain tumors, such as gliomas, recent advances in DNA methylation profiling have allowed for a comprehensive molecular classification. Such data provide prognostic information, in addition to helping predict patient response to specific systemic therapies. However, epigenetic alterations of metastatic brain tumors with specific biological and translational relevance still require much further exploration. Using the widely employed Illumina Infinium HumanMethylation 450K ...

Handwriting At Different Paces And Sizes With Visual Cues In Persons With Parkinson’S Disease, Andrew Zaman, Elizabeth L. Stegemoller

Kinesiology Publications

Background: Persons with Parkinson’s disease (PD) typically have small handwriting, especially when writing faster and/or larger. However, visual cues can help persons with PD increase their handwriting size. This study tested if lined paper would improve handwriting in persons with PD, even when writing faster and/or larger. Secondarily, we wanted determine if persons with PD perceived handwriting as stressful, and if perceived stress was associated with writing performance.

Methods: The study included 22 subjects with Parkinson’s disease and 11 age-gender-matched controls. Participants completed eight trials (2 × 2 × 2) of printing a “P” and “d”, at a ...

Leveling The Playing Field: Supporting Neurodiversity Via Virtual Realities, Louanne E. Boyd, Kendra Day, Natalia Stewart, Kaitlyn Abdo, Kathleen Lamkin, Erik J. Linstead

Mathematics, Physics, and Computer Science Faculty Articles and Research

Neurodiversity is a term that encapsulates the diverse expression of human neurology. By thinking in broad terms about neurological development, we can become focused on delivering a diverse set of design features to meet the needs of the human condition. In this work, we move toward developing virtual environments that support variations in sensory processing. If we understand that people have differences in sensory perception that result in their own unique sensory traits, many of which are clustered by diagnostic labels such as Autism Spectrum Disorder (ASD), Sensory Processing Disorder, Attention-Deficit/Hyperactivity Disorder, Rett syndrome, dyslexia, and so on, then ...

Genetics Of The Thrombomodulin-Endothelial Cell Protein C Receptor System And The Risk Of Early-Onset Ischemic Stroke, John W. Cole, Huichun Xu, Kathleen Ryan,, Thomas Jaworek, Nicole Dueke, Patrick Mcardle, Brady Gaynor,, Yu-Ching Cheng, Jeffrey O'Connell, Ayeesha Kamran Kamal

Section of Neurology

Background and Purpose: Polymorphisms in coagulation genes have been associated with early-onset ischemic stroke. Here we pursue an a priori hypothesis that genetic variation in the endothelial-based receptors of the thrombomodulin-protein C system (THBD and PROCR) may similarly be associated with early-onset ischemic stroke. We explored this hypothesis utilizing a multi-stage design of discovery and replication.

Methods: Discovery was performed in the Genetics-of-Early-Onset Stroke (GEOS) Study, a biracial population-based case-control study of ischemic stroke among men and women aged 15-49 including 829 cases of first ischemic stroke (42.2% African-American) and 850 age-comparable stroke-free controls (38.1% African-American). Twenty-four single-nucleotide-polymorphisms ...