Neurology Commons^™

Molybdenum Cofactor Deficiency Causing Neonatal Seizures And Global Developmental Delay, Sundal Aziz, Javeria Raza Alvi, Tipu Sultan

Pakistan Journal of Neurological Sciences (PJNS)

ABSTRACT: Molybdenum cofactor deficiency is a rare degenerative brain disorder with autosomal recessive inheritance. It presents early in neonatal life with seizures, feeding difficulty and spasticity, sometimes misdiagnosed as neonatal hypoxic ischemic encephalopathy. Neuroimaging findings are consistent with loss of white matter and volume along with cystic encephalomalacic changes. Most of the patients have mutations in the MOCS1 and MOCS2 genes causing imbalance in the sulfur-containing amino acid metabolism leading to progressive neurological damage and early childhood death in majority of cases. We report a case of a 7 months old child, product of non-consanguineous marriage with history of neonatal …

A Case Of Heroin Induced Toxic Leukoencephalopathy, Sidra Sattar, Saba Zaidi

Pakistan Journal of Neurological Sciences (PJNS)

ABSTRACT: Heroin-induced leukoencephalopathy comes under the category of Toxic leukoencephalopathies. We report the case of middle-aged gentleman with the history of polysubstance abuse who presented with recurrent falls, difficulty in walking and drowsiness. Diffuse white matter changes were appreciated on MRI Brain with sparing of cerebellum. In context of his history of inhalational heroin abuse with extensive symmetrical white matter changes in cerebrum, a diagnosis of heroin induced toxic leukoencephalopathy was made.

Hemichorea Associated With Type 2 Diabetes: A Rare Neurological Complication, Waleed Shahzad, Tehmina Inayat, Fibhaa Syed, Mohammad Ali Arif, Muhammad Hassan, Haris Majid Rajput, Mazhar Badshah

Pakistan Journal of Neurological Sciences (PJNS)

Diabetic hemichorea/hemiballism is a spectrum of hyper kinetic, involuntary, irregular, purposeless, non-rhythmic, rapid and unsustained movements flowing from one part of the body to another. It involves contra lateral basal-ganglia and often striatum of the brain. Here we are reporting an un-usual case of choreiform movement disorder which was sudden in onset. It was accompanied with abnormally high values of blood glucose. Our patient had a complete remission of symptoms after an adequate control of blood glucose was achieved. This case illustrates the importance and rarity of hyperglycemia as a rare cause of hemichorea. It recovers rapidly and has a …

Epilepsy Risk Prediction Model For Patients With Tuberous Sclerosis Complex, Darcy A Krueger, Hope Northrup, Tacern Study Group

Faculty, Staff and Student Publications

BACKGROUND: Individuals with tuberous sclerosis complex are at increased risk of epilepsy. Early seizure control improves developmental outcomes, making identifying at-risk patients critically important. Despite several identified risk factors, it remains difficult to predict. The purpose of the study was to evaluate the combined risk prediction of previously identified risk factors for epilepsy in individuals with tuberous sclerosis complex.

METHODS: The study group (n = 333) consisted of individuals with tuberous sclerosis complex who were enrolled in the Tuberous Sclerosis Complex Autism Center of Excellence Research Network and UT TSC Biobank. The outcome was defined as having an epilepsy diagnosis. …

Acute Ischemic Stroke As The Presenting Feature Of Covid-19 In The Young And Pregnant, Nermila A. Ballmick, Jiri F. Kubac, Hossein Akhondi

HCA Healthcare Journal of Medicine

Introduction: Coronavirus disease (COVID-19) is an emerging and rapidly evolving public health issue that has become globally widespread and an overwhelming pandemic. Clinical manifestations of the disease include asymptomatic carrier states, acute respiratory distress syndrome, and even multiorgan dysfunction. Here, we present a unique and rare case of an acute ischemic stroke (AIS) in an asymptomatic pregnant woman with no predisposing medical illnesses.

Discussion: An 18-year-old G2P1 African American woman at 7 weeks gestational age with no significant medical or family history presenting to the Emergency Department during the initial phases of the pandemic with complaints of new onset left …

Neuropsychiatric Presentation Of Covid-19: A Case Report Of Disinhibition In An Acute Sars-Cov-2 Infection, I. Jack Abramson, Kristy A. Fisher, Clara V. Alvarez, Jacqueline Horan Fisher

HCA Healthcare Journal of Medicine

Severe Acute Respiratory Syndrome Coronavirus-2 (SARS-CoV-2) viral infection is notable for a high degree of symptom diversity. Emerging evidence suggests viral invasion of the central nervous system; therefore, serious neurological and psychiatric manifestations are anticipated. We present the case of a 67-year-old male physician with a history of stable Bipolar Disorder for decades, hospitalized for persistent COVID-19 symptoms with documented positive serology, who presented with new and acute onset neuropsychiatric symptoms of disinhibition proximate the viral infection. We postulate neuroinvasion as the putative origin of the patient’s psychiatric instability. Further investigation is needed to expand upon our understanding of the …

Dynamic Body-Weight Support To Boost Rehabilitation Outcomes In Patients With Non-Traumatic Spinal Cord Injury: An Observational Study, Justin P. Huber, Lumy Sawaki

Neurology Faculty Publications

BACKGROUND: Dynamic body-weight support (DBWS) may play an important role in rehabilitation outcomes, but the potential benefit among disease-specific populations is unclear. In this study, we hypothesize that overground therapy with DBWS during inpatient rehabilitation yields greater functional improvement than standard-of-care in adults with non-traumatic spinal cord injury (NT-SCI).

METHODS: This retrospective cohort study included individuals diagnosed with NT-SCI and undergoing inpatient rehabilitation. All participants were recruited at a freestanding inpatient rehabilitation hospital. Individuals who trained with DBWS for at least three sessions were allocated to the experimental group. Participants in the historical control group received standard-of-care (i.e., no DBWS). …

Applications Of Non-Invasive Neuromodulation For The Management Of Disorders Related To Covid-19, Abrahão Fontes Baptista, Adriana Baltar, Alexandre Hideki Okano, Alexandre Moreira, Ana Carolina Pinheiro Campos, Ana Mércia Fernandes, André Russowsky Brunoni, Bashar W. Badran, Clarice Tanaka, Daniel Ciampi De Andrade, Daniel Gomes Da Silva Machado, Edgard Morya, Eduardo Trujillo, Jaiti K. Swami, Joan A. Camprodon, Katia Monte-Silva, Katia Nunes Sá, Isadora Nunes, Juliana Barbosa Goulardins, Marom Bikson, Pedro Sudbrack-Oliveira, Priscila De Carvalho, Rafael Jardim Duarte-Moreira, Rosana Lima Pagano, Samuel Katsuyuki Shinjo, Yossi Zana

Publications and Research

Background: Novel coronavirus disease (COVID-19) morbidity is not restricted to the respiratory system, but also affects the nervous system. Non-invasive neuromodulation may be useful in the treatment of the disorders associated with COVID-19.

Objective: To describe the rationale and empirical basis of the use of non-invasive neuromodulation in the management of patients with COVID-10 and related disorders.

Methods: We summarize COVID-19 pathophysiology with emphasis of direct neuroinvasiveness, neuroimmune response and inflammation, autonomic balance and neurological, musculoskeletal and neuropsychiatric sequela. This supports the development of a framework for advancing applications of non-invasive neuromodulation in the management COVID-19 and related disorders.

Results: …

Diagnosing And Managing Post-Stroke Aphasia, Shannon M. Sheppard, Rajani Sebastian

Communication Sciences and Disorders Faculty Articles and Research

Introduction: Aphasia is a debilitating language disorder and even mild forms of aphasia can negatively affect functional outcomes, mood, quality of life, social participation, and the ability to return to work. Language deficits after post-stroke aphasia are heterogeneous.

Areas covered: The first part of this manuscript reviews the traditional syndrome-based classification approach as well as recent advances in aphasia classification that incorporate automatic speech recognition for aphasia classification. The second part of this manuscript reviews the behavioral approaches to aphasia treatment and recent advances such as noninvasive brain stimulation techniques and pharmacotherapy options to augment the effectiveness of …

Sleep Deprivation And Neurological Disorders, Muhammed Bishir

Brain and Mind Institute

Sleep plays an important role in maintaining neuronal circuitry, signalling and helps maintain overall health and wellbeing. Sleep deprivation (SD) disturbs the circadian physiology and exerts a negative impact on brain and behavioural functions. SD impairs the cellular clearance of misfolded neurotoxin proteins like α-synuclein, amyloid-β, and tau which are involved in major neurodegenerative diseases like Alzheimer’s disease and Parkinson’s disease. In addition, SD is also shown to affect the glymphatic system, a glial-dependent metabolic waste clearance pathway, causing accumulation of misfolded faulty proteins in synaptic compartments resulting in cognitive decline. Also, SD affects the immunological and …

Social And Leisure Activities Predict Transitions In Cognitive Functioning In Older Mexican Adults: A Latent Transition Analysis Of The Mexican Health And Aging Study, Lee A Niswander

Faculty, Staff and Student Publications

Disruptions in neural tube (NT) closure result in neural tube defects (NTDs). To understand the molecular processes required for mammalian NT closure, we investigated the role of Snx3, a sorting nexin gene. Snx3−/− mutant mouse embryos display a fully-penetrant cranial NTD. In vivo, we observed decreased canonical WNT target gene expression in the cranial neural epithelium of the Snx3−/− embryos and a defect in convergent extension of the neural epithelium. Snx3−/− cells show decreased WNT secretion, and live cell imaging reveals aberrant recycling of the WNT ligand-binding protein WLS and mis-trafficking to the lysosome for degradation. The importance …

Efficacy And Safety Of Abobotulinumtoxina For Upper Limb Spasticity In Children With Cerebral Palsy: A Randomized Repeat-Treatment Study, Mauricio R. Delgado, Ann Tilton, Jorge Carranzo-Del Rio, Nigar Dursun, Marcin Bonikowski, Resa Aydin, Iwona Maciag-Tymecka, Joyce Oleszek, Edward Dabrowski, Anne-Sophie Grandoulier, Philippe Picaut, The Dysport In Pul Study Group

School of Medicine Faculty Publications

Aim: To assess the efficacy and safety of repeat abobotulinumtoxinA injections in reducing upper limb spasticity in children with cerebral palsy (CP). Method: This was a double-blind, repeat-cycle study (NCT02106351) in children with CP (2–17y). Children were randomized to receive 2U/kg (control), 8U/kg, or 16U/kg abobotulinumtoxinA injections into the target muscle group (wrist or elbow flexors) and additional muscles alongside occupational therapy via a home-exercise therapy program (HETP; minimum five 15min sessions/wk). Children received 8U/kg or 16U/kg plus HETP in cycles 2 to 4. Results: During cycle 1, 210 children (126 males, 84 females; mean age [SD] 9y [4y 5mo], …

Metabolic Network Analysis Reveals Altered Bile Acid Synthesis And Metabolism In Alzheimer's Disease., Priyanka Baloni, Cory C Funk, Jingwen Yan, James T Yurkovich, Alexandra Kueider-Paisley, Kwangsik Nho, Almut Heinken, Wei Jia, Siamak Mahmoudiandehkordi, Gregory Louie, Andrew J Saykin, Matthias Arnold, Gabi Kastenmüller, William J Griffiths, Ines Thiele, Alzheimer’S Disease Metabolomics Consortium, Rima Kaddurah-Daouk, Nathan D Price

Articles, Abstracts, and Reports

Increasing evidence suggests Alzheimer's disease (AD) pathophysiology is influenced by primary and secondary bile acids, the end product of cholesterol metabolism. We analyze 2,114 post-mortem brain transcriptomes and identify genes in the alternative bile acid synthesis pathway to be expressed in the brain. A targeted metabolomic analysis of primary and secondary bile acids measured from post-mortem brain samples of 111 individuals supports these results. Our metabolic network analysis suggests that taurine transport, bile acid synthesis, and cholesterol metabolism differ in AD and cognitively normal individuals. We also identify putative transcription factors regulating metabolic genes and influencing altered metabolism in AD. …

Pharmacological Intervention In Children With Autism Spectrum Disorder With Standard Supportive Therapies Significantly Improves Core Signs And Symptoms: A Single-Center, Retrospective Case Series, Hamza A. Alsayouf, Haitham Talo, Marisa L. Biddappa, Mohammad Qasaymeh, Shadi Qasem, Emily De Los Reyes

Pathology and Laboratory Medicine Faculty Publications

Purpose: Autism spectrum disorder (ASD) is a debilitating neurodevelopmental disorder with high heterogeneity and no clear common cause. Several drugs, in particular risperidone and aripiprazole, are used to treat comorbid challenging behaviors in children with ASD. Treatment with risperidone and aripiprazole is currently recommended by the Food and Drug Administration (FDA) in the USA for children aged 5 and 6 years and older, respectively. Here, we investigated the use of these medications in younger patients aged 4 years and older.

Patients and Methods: This retrospective case series included 18 children (mean age, 5.7 years) with ASD treated at the Kids …

Safety And Tolerability Of Srx246, A Vasopressin 1a Antagonist, In Irritable Huntington's Disease Patients-A Randomized Phase 2 Clinical Trial., Michael J Brownstein, Neal G Simon, Jeffrey D Long, Jon Yankey, Hilda T Maibach, Merit Cudkowicz, Christopher Coffey, Robin A Conwit, Codrin Lungu, Karen E Anderson, Steven M Hersch, Dixie J Ecklund, Eve M Damiano, Debra E Itzkowitz, Shifang Lu, Marianne K Chase, Jeremy M Shefner, Andrew Mcgarry, Brenda Thornell, Catherine Gladden, Michele Costigan, Padraig O'Suilleabhain, Frederick J Marshall, Amy M Chesire, Paul Deritis, Jamie L Adams, Peter Hedera, Kelly Lowen, H Diana Rosas, Amie L Hiller, Joseph Quinn, Kellie Keith, Andrew P Duker, Christina Gruenwald, Angela Molloy, Cara Jacob, Stewart Factor, Elaine Sperin, Danny Bega, Zsazsa R Brown, Lauren C Seeberger, Victor W Sung, Melanie Benge, Sandra K Kostyk, Allison M Daley, Susan Perlman, Valerie Suski, Patricia Conlon, Matthew J Barrett, Stephanie Lowenhaupt, Mark Quigg, Joel S Perlmutter, Brenton A Wright, Elaine Most, Guy J Schwartz, Jessica Lamb, Rosalind S Chuang, Carlos Singer, Karen Marder, Joyce A Moran, John R Singleton, Meghan Zorn, Paola V Wall, Richard M Dubinsky, Carolyn Gray, Carolyn Drazinic

Articles, Abstracts, and Reports

SRX246 is a vasopressin (AVP) 1a receptor antagonist that crosses the blood-brain barrier. It reduced impulsive aggression, fear, depression and anxiety in animal models, blocked the actions of intranasal AVP on aggression/fear circuits in an experimental medicine fMRI study and demonstrated excellent safety in Phase 1 multiple-ascending dose clinical trials. The present study was a 3-arm, multicenter, randomized, placebo-controlled, double-blind, 12-week, dose escalation study of SRX246 in early symptomatic Huntington's disease (HD) patients with irritability. Our goal was to determine whether SRX246 was safe and well tolerated in these HD patients given its potential use for the treatment of problematic …

Longitudinal Assessment Of Dementia Measures In Down Syndrome, Lisa Mason Koehl, Jordan P. Harp, Kathryn L. Van Pelt, Elizabeth Head, Frederick A. Schmitt

Neurology Faculty Publications

Introduction: Early detection of dementia symptoms is critical in Down syndrome (DS) but complicated by clinical assessment barriers. The current study aimed to characterize cognitive and behavioral impairment using longitudinal trajectories comparing several measures of cognitive and behavioral functioning.

Methods: Measures included global cognitive status (Severe Impairment Battery [SIB]), motor praxis (Brief Praxis Test [BPT]), and clinical dementia informant ratings (Dementia Questionnaire for People with Learning Disabilities [DLD]). One-year reliability was assessed using a two-way mixed effect, consistency, single measurement intraclass correlation among non-demented participants. Longitudinal assessment of SIB, BPT, and DLD was completed using linear mixed effect models.

Results: …

Update On The Use Of Transcranial Electrical Brain Stimulation To Manage Acute And Chronic Covid-19 Symptoms, Giuseppina Pilloni, Marom Bikson, Bashar W. Badran, Mark S. George, Steven A. Kautz, Alexandre Hideki Okano, Abrahão Fontes Baptista, Leigh E. Charvet

Publications and Research

The coronavirus disease 19 (COVID-19) pandemic has resulted in the urgent need to develop and deploy treatment approaches that can minimize mortality and morbidity. As infection, resulting illness, and the often prolonged recovery period continue to be characterized, therapeutic roles for transcranial electrical stimulation (tES) have emerged as promising non-pharmacological interventions. tES techniques have established therapeutic potential for managing a range of conditions relevant to COVID-19 illness and recovery, and may further be relevant for the general management of increased mental health problems during this time. Furthermore, these tES techniques can be inexpensive, portable, and allow for trained self-administration. Here, …

Can Awake Glioma Surgery Be The New Standard Of Care In Developing Countries?, Syed Sarmad Bukhari, Muhammad Shahzad Shamim

Section of Neurosurgery

No abstract provided.

Understanding The Neuroprotective Effect Of Tranexamic Acid: An Exploratory Analysis Of The Crash-3 Randomised Trial, Amy Brenner, Antonio Belli, Rizwana Chaudhri, Timothy Coats, Lauren Frimley, Sabariah Faizah Jamaluddin, Rashid Jooma, Raoul Mansukhani, Peter Sandercock, Haleema Shakur-Still

Section of Neurosurgery

Background: The CRASH-3 trial hypothesised that timely tranexamic acid (TXA) treatment might reduce deaths from intracranial bleeding after traumatic brain injury (TBI). To explore the mechanism of action of TXA in TBI, we examined the timing of its effect on death.
Methods: The CRASH-3 trial randomised 9202 patients within 3 h of injury with a GCS score ≤ 12 or intracranial bleeding on CT scan and no significant extracranial bleeding to receive TXA or placebo. We conducted an exploratory analysis of the effects of TXA on all-cause mortality within 24 h of injury and within 28 days, excluding patients with …

Time Cells In The Human Hippocampus And Entorhinal Cortex Support Episodic Memory., Gray Umbach, Pranish Kantak, Joshua Jacobs, Michael Kahana, Brad E. Pfeiffer, Michael R Sperling, Bradley Lega

Department of Neurology Faculty Papers

The organization of temporal information is critical for the encoding and retrieval of episodic memories. In the rodent hippocampus and entorhinal cortex, evidence accumulated over the last decade suggests that populations of "time cells" in the hippocampus encode temporal information. We identify time cells in humans using intracranial microelectrode recordings obtained from 27 human epilepsy patients who performed an episodic memory task. We show that time cell activity predicts the temporal organization of retrieved memory items. We also uncover evidence of ramping cell activity in humans, which represents a complementary type of temporal information. These findings establish a cellular mechanism …