Nervous System Diseases Commons^™

Edge-Wise Analysis Reveals White Matter Connectivity Associated With Focal To Bilateral Tonic-Clonic Seizures, Sam S. Javidi, Xiaosong He, Ankeeta Ankeeta, Qirui Zhang, Salvatore Citro, Michael R. Sperling, Joseph I. Tracy

Farber Institute for Neuroscience Faculty Papers

OBJECTIVE: Focal to bilateral tonic-clonic seizures (FBTCS) represent a challenging subtype of focal temporal lobe epilepsy (TLE) in terms of both severity and treatment response. Most studies have focused on regional brain analysis that is agnostic to the distribution of white matter (WM) pathways associated with a node. We implemented a more selective, edge-wise approach that allowed for identification of the individual connections unique to FBTCS.

METHODS: T1-weighted and diffusion-weighted images were obtained from 22 patients with solely focal seizures (FS), 43 FBTCS patients, and 65 age/sex-matched healthy participants (HPs), yielding streamline (STR) connectome matrices. We used diffusion tensor-derived STRs …

Heterogeneity And Overlap In The Continuum Of Linguistic Profile Of Logopenic And Semantic Variants Of Primary Progressive Aphasia: A Profile Analysis Based On Multidimensional Scaling Study, Gaia Chiara Santi, Francesca Conca, Valentina Esposito, Cristina Polito, Silvia Paola Caminiti, Cecilia Boccalini, Carmen Morinelli, Valentina Berti, Salvatore Mazzeo, Valentina Bessi, Alessandra Marcone, Sandro Iannaccone, Se-Kang Kim, Sandro Sorbi, Daniela Perani, Stefano F Cappa, Eleonora Catricalà

Faculty, Staff and Students Publications

BACKGROUND: Primary progressive aphasia (PPA) diagnostic criteria underestimate the complex presentation of semantic (sv) and logopenic (lv) variants, in which symptoms partially overlap, and mixed clinical presentation (mixed-PPA) and heterogenous profile (lvPPA +) are frequent. Conceptualization of similarities and differences of these clinical conditions is still scarce.

METHODS: Lexical, semantic, phonological, and working memory errors from nine language tasks of sixty-seven PPA were analyzed using Profile Analysis based on Multidimensional Scaling, which allowed us to create a distributed representation of patients' linguistic performance in a shared space. Patients had been studied with [

RESULTS: Patients' profiles were distributed across a …

Retinal Thickness In Essential Tremor And Early Parkinson Disease: Exploring Diagnostic Insights, Claudio Terravecchia, Giovanni Mostile, Clara G Chisari, Cristina Rascunà, Roberta Terranova, Calogero E Cicero, Loretta Giuliano, Giulia Donzuso, Giorgia Sciacca, Antonina Luca, Pierre-Marie Preux, Joseph Jankovic, Mario Zappia, Alessandra Nicoletti

Faculty, Staff and Students Publications

BACKGROUND: Essential tremor (ET) represents a heterogeneous condition which may overlap with Parkinson disease (PD) even at early stages, by sharing some subtle clinical aspects. Longstanding ET demonstrated also higher risk of developing PD, especially with a Tremor-dominant (TD-PD) phenotype. Therefore, differential diagnosis between ET and early PD could be quite challenging. Optical coherence tomography (OCT) has been recognized as a reliable tool to assess the retina as a proxy of neurodegeneration. We aimed to explore the possible role of retinal assessment in differential diagnosis between ET and early PD.

METHODS: Macular layers and peripapillary retinal nerve fiber layer (RNFL) …

Comparative Efficacy, Quality Of Life, Safety, And Tolerability Of Atogepant And Rimegepant In Migraine Prevention: A Matching-Adjusted Indirect Comparison Analysis, Cristina Tassorelli, Kateryna Onishchenko, Rashmi B. Halker Singh, Molly Duan, Laure Dupont-Benjamin, Matthew Hemstock, Corey Voller, Peter Mcallister, Stephanie J. Nahas, Pranav Gandhi, Jessica Ailani

Department of Neurology Faculty Papers

BACKGROUND: Comparative evaluations of preventive migraine treatments can help inform clinical decision making for managing migraine in clinical practice.

METHODS: An anchored matching-adjusted indirect comparison analysis was conducted using pooled participant-level data from two phase 3 atogepant trials (ADVANCE and PROGRESS) and one phase 2/3 rimegepant trial (BHV3000-305) to evaluate the relative efficacy and safety/tolerability of atogepant and rimegepant as preventive migraine treatments. Participants receiving atogepant 60 mg once daily, rimegepant orally disintegrating tablet 75 mg once every other day, and placebo were included. Only participants meeting the BHV3000-305 inclusion/exclusion criteria were analyzed: ≥6 monthly migraine days and ≤18 monthly …

Piriformis Syndrome With A Variant Presentation, Roberto Chuapoco, Ryan E. Linford

Annual Research Symposium

Piriformis syndrome has long been a diagnostic quandary due to its tendency to present as other nerve-related conditions. Piriformis syndrome is commonly caused by entrapment of the sciatic nerve as it travels through the greater sciatic foramen due to hypertrophy of the piriformis muscle. However, its constellation of symptoms, including radiating pain down the thigh, can easily be mistaken for lumbosacral radiculopathy. This case report aims to address the misdiagnosis of piriformis syndrome which has prolonged pain for many patients and increased the cost of medical care. It demonstrates a 76-year-old female with a confounding presentation of piriformis syndrome: buttock …

Levodopa Rescues Retinal Function In The Transgenic A53t Alpha-Synuclein Model Of Parkinson's Disease, Katie K N Tran, Vickie H Y Wong, Kirstan A Vessey, David I Finkelstein, Bang V Bui, Christine T O Nguyen

Faculty, Staff and Student Publications

BACKGROUND: Loss of substantia nigra dopaminergic cells and alpha-synuclein (α-syn)-rich intraneuronal deposits within the central nervous system are key hallmarks of Parkinson's disease (PD). Levodopa (L-DOPA) is the current gold-standard treatment for PD. This study aimed to evaluate

METHODS: Anaesthetised 6-month-old mice expressing human A53T alpha-synuclein (HOM) and wildtype (WT) control littermates were intraperitoneally given 20 mg/kg L-DOPA (50 mg levodopa, 2.5 mg benserazide) or vehicle saline (

RESULTS: We found that photoreceptor (a-wave) and bipolar cell (b-wave) ERG responses (

CONCLUSIONS: These findings deepen our understanding of dopamine and alpha-synuclein interactions in the retina and provide a high-throughput preclinical …

Digital Clock Drawing As An Alzheimer's Disease Susceptibility Biomarker: Associations With Genetic Risk Score And Apoe In Older Adults, L I Thompson, M Cummings, S Emrani, David J. Libon, A Ang, C Karjadi, R Au, C Liu

Rowan-Virtua School of Osteopathic Medicine Departmental Research

BACKGROUND: Alzheimer's disease (AD) is the leading cause of dementia in older adults, but most people are not diagnosed until significant neuronal loss has likely occurred along with a decline in cognition. Non-invasive and cost-effective digital biomarkers for AD have the potential to improve early detection.

OBJECTIVE: We examined the validity of DCTclockTM (a digitized clock drawing task) as an AD susceptibility biomarker.

DESIGN: We used two primary independent variables, Apolipoprotein E (APOE) ε4 allele carrier status and polygenic risk score (PRS). We examined APOE and PRS associations with DCTclockTM composite scores as dependent measures.

SETTING: We used existing data …

Case Report: A 28-Year-Old Male With Bilateral Lower Extremities Paresthesias, Characteristic Presentation Of Guillain-Barre Syndrome And Innovative Treatments, Petros Keoseyan, Ricky Oshakuade, Danielle Genov, Derek Draper, Nick Duff, Anna Belits, Dmitriy Scherbak

Continental, MidAmerica, & Mountain Divisions GME Research Day 2024

No abstract provided.

A Case Report Of Marburg Multiple Sclerosis Responding To Mitoxantrone, Aruna Souri, Athena Dao, Russell Bartt

Continental, MidAmerica, & Mountain Divisions GME Research Day 2024

No abstract provided.

Multiple Central Nervous System Cryptococcomas Masquerading As Lymphoma, Alexander V. Ortiz, Dhruven Mehta, Juli Horton, Adrian A. Jarquin-Valdivia

TriStar Division GME Research Day 2024

No abstract provided.

A Case Of Elevated Intracranial Pressure Following Acute Parotitis, Alexander V. Ortiz, Ashwini Kini, Adrian A. Jarquin-Valdivia

TriStar Division GME Research Day 2024

No abstract provided.

Non-Coding Rnas Involved In The Molecular Pathology Of Alzheimer’S Disease: A Systematic Review, Reynand Jay Canoy, Jenica Clarisse Sy, Christian Deo Deguit, Caitlin Bridgette Castro, Lyoneil James Dimaapi, Beatrice Gabrielle Panlaqui, Wenzel Perian, Justine Yu, John Mark Velasco, Jesus Emmanuel Sevilleja, Anna Gibson

Ateneo School of Medicine and Public Health Publications

Alzheimer’s disease (AD) is the leading cause of dementia globally, having a pathophysiology that is complex and multifactorial. Recent findings highlight the significant role of non-coding RNAs (ncRNAs), specifically microRNAs (miRNAs), long non-coding RNAs (lncRNAs), circular RNAs (circRNAs), and piwi-interacting RNAs (piRNAs) in the molecular mechanisms underlying AD. These ncRNAs are involved in critical biological processes such as cell proliferation, apoptosis, oxidative stress, amyloid-beta aggregation, tau phosphorylation, neuroinflammation, and autophagy, which are pivotal in AD development and progression. This systematic review aims to consolidate current scientific knowledge on the role of ncRNAs in AD, making it the first to encompass …

Systemic Lupus Erythematosus Presenting As Aseptic Meningitis And Pancytopenia, Julia Collins, Roy Escobar, Vishnu Halthore, Ali Abu-Alya, Tanvir Khosla, Hamza Hansoti, Janita Sidhu, Elia Barraza, Zachary Charif, Azaam Mamoor, Ann Wierman, Venkatachalam Veerappan

Far West Division GME Research Day 2024

No abstract provided.

Co-Occurrence Of Autism Spectrum Disorder And Attention-Deficit/Hyperactivity Disorder With Idiopathic Hypersomnia: Data From The Hypersomnia Foundation Registry, Sophie Sevan Mikkelsen

Honors Undergraduate Theses

In recent years, hypersomnia patients and researchers alike have increasingly discussed the possibility of heightened comorbidities, or co-occurrences, of autism spectrum disorder (ASD) and attention-deficit/hyperactivity disorder (ADHD) with the central disorders of hypersomnolence: idiopathic hypersomnia (IH) and narcolepsy (N). While a few scarce studies have investigated a link between ADHD and N, there has been no research on the co-occurrence of these conditions with IH. This study, using data from the Hypersomnia Foundation’s CoRDS Patient Registry, is the first to identify self-reported rates of ASD and ADHD diagnoses by people with idiopathic hypersomnia. Four chi-square tests were conducted to determine …

Multiple Sclerosis In Central America And Caribbean Countries: Frequency And Clinical Characterization Of An Emergent Disease, Fernando Gracia, Deyanira A Ramírez Navarro, Nicia E Ramírez Sánchez, Roberto Weiser, Alexander Parajeles-Vindas, Ligia I Portillo Rivera, Ericka López Torres, Luis A García Valle, Alfredo Sanabria-Castro, César Abdón López, Pahola Araujo, Maria J Ayerdis Zamora, Andrea Balmaceda-Meza, Aron Benzadon Cohen, Awilda Candelario Cueto, Diego Castillo, Romy Castro-Escobar, Karla Z Corea Urbina, Anyeri De Peña Rivas, Octavio Duarte Sotelo, Temís Enamorado Claros, José L Giroud Benítez, Karla Gracia, Mario Larreategui, Jorge A Martínez Cerrato, Josmarlin P Medina Báez, Carlos E Menjivar Samayoa, Gustavo Miranda-Loria, Priscilla Monterrey-Alvarez, Lilliam A Morales Arguello, Michelle Ortiz, Carlos D Pérez Baldioceda, Lizeth Pinilla Aguilar, Luis C Rodríguez Salinas, Virginia Rodríguez-Moreno, Sebastián Rojas-Chaves, Norbel Román-Garita, Biany Santos Pujols, Carlos Valderrama, Ivonne Van Sijtveld, Indhira Zabala Angeles, Victor M Rivera, Blas Armien

Faculty, Staff and Students Publications

BACKGROUND: Multiple Sclerosis (MS) is a common neurological disease among white populations of European origin. Frequencies among Latin Americans continue to be studied, however, epidemiologic, and clinical characterization studies lack from Central American and Caribbean countries. Ethnicity in these countries is uniformly similar with a prevalent Mestizo population.

METHODS AND RESULTS: Data from January 2014 to December 2019 from Guatemala, El Salvador, Honduras, Nicaragua, Costa Rica, Panama, Dominican Republic, and Aruba on demographic, clinical, MRI and phenotypic traits were determined in coordinated studies: ENHANCE, a population-based, retrospective, observational study on incidence and clinical characteristics, and from the subgroup with MS …

Autonomic Modulation Of Cardiac Function In Hypertrophic Cardiomyopathy, Jenna Rose Disser

Dissertations, Master's Theses and Master's Reports

Hypertrophic cardiomyopathy (HCM) is the most common genetic heart disorder. HCM is characterized by cardiac hypertrophy, fibrosis, and an increased risk of fatal arrhythmias and sudden cardiac death. Previous studies in humans with HCM have demonstrated increased cardiac norepinephrine spillover and reduced beta-1 receptor (β1R) expression in the left ventricle (LV). We have previously demonstrated that cardiac sympathetic tone is elevated in an alpha-tropomyosin mutant mouse model of HCM. We hypothesized that HCM mice would demonstrate reduced β1R expression in the LV and attenuated heart rate (HR) and dP/dt max responses to ramped infusion of the β1R agonist, dobutamine. …

Peripheral Nerve Stimulation After Total Knee Arthroplasty And Non-Operable Patella Fracture, Peter D Vu, Farah Gul, Christopher L Robinson, Grant H Chen, Jamal Hasoon

Faculty, Staff and Student Publications

Chronic knee pain, affecting over 25% of adults in the United States, has surged by 65% over the past two decades leading to rising functional deficits, mobility problems, and a diminished quality of life. While conservative management with pharmacologic and minimally invasive injections are pursued early in the disease process, total knee arthroplasty for refractory osteoarthritis of the knee is often considered. This procedure usually improves pain and functionality within the first three months. However, a significant portion of patients often suffer from postoperative pain that can become chronic and debilitating. We detail the case of a patient with a …

Parkinson's Disease And Other Alzheimer's Disease And Related Dementia Pathologies And The Progression Of Parkinsonism In Older Adults, Aron S Buchman, Lei Yu, Shahram Oveisgharan, Andrea R Zammit, Tianhao Wang, Joshua M Shulman, Veronique Vanderhorst, Sukrit Nag, David A Bennett

Faculty, Staff and Students Publications

BACKGROUND: The interrelationship of parkinsonism, Parkinson's disease (PD) and other Alzheimer's disease (AD) and Alzheimer's disease and related dementias (ADRD) pathologies is unclear.

OBJECTIVE: We examined the progression of parkinsonian signs in adults with and without parkinsonism, and their underlying brain pathologies.

METHODS: Annual parkinsonian signs were based on a modified Unified Parkinson's Disease Rating Scale. We used linear mixed effects models to compare the progression of parkinsonian signs in 3 groups categorized based on all available clinical evaluations: Group1 (never parkinsonism or clinical PD), Group2 (ever parkinsonism, but never clinical PD), Group3 (ever clinical PD). In decedents, we examined …

Altered Outer Retinal Structure, Electrophysiology And Visual Perception In Parkinson's Disease, Katie K N Tran, Pei Ying Lee, David I Finkelstein, Allison M Mckendrick, Bao N Nguyen, Bang V Bui, Christine T O Nguyen

Faculty, Staff and Student Publications

BACKGROUND: Visual biomarkers of Parkinson's disease (PD) are attractive as the retina is an outpouching of the brain. Although inner retinal neurodegeneration in PD is well-established this has overlap with other neurodegenerative diseases and thus outer retinal (photoreceptor) measures warrant further investigation.

OBJECTIVE: To examine in a cross-sectional study whether clinically implementable measures targeting outer retinal function and structure can differentiate PD from healthy ageing and whether these are sensitive to intraday levodopa (L-DOPA) dosing.

METHODS: Centre-surround perceptual contrast suppression, macular visual field sensitivity, colour discrimination, light-adapted electroretinography and optical coherence tomography (OCT) were tested in PD participants (n = …

Shift From Older- To Newer-Generation Antiseizure Medications In People With Acute Ischemic Stroke In Australia: A Population-Based Study, Stella Jung-Hyun Kim, Stephen Wood, Clara Marquina, Emma Foster, J Simon Bell, Jenni Ilomäki

Faculty, Staff and Student Publications

OBJECTIVE: To investigate the trends in antiseizure medications (ASMs) use following ischemic stroke and to examine factors associated with use of newer- and older-generation ASMs.

METHODS: A retrospective cohort study was conducted using state-wide linked health datasets. Patients who were hospitalized with a first-ever ischemic stroke between 2013 and 2017 and were dispensed ASM within 12 months from discharge were included. Logistic regression was used to examine the predictors of receiving newer-generation ASMs. Generalized linear modeling was used to identify factors associated with ASM use after ischemic stroke.

RESULTS: Of 19 601 people hospitalized with a first-ever ischemic stroke, 989 …

Cytomegalovirus And Varicella Zoster Virus Coinfection-Associated Central Hypoventilation Syndrome (Ondine's Curse), Marine Isakadze, Benjamin Zwain, Alan J. Velander, Jesus Lovera

School of Medicine Faculty Publications

Central hypoventilation syndrome (CHS) is a rare condition resulting from damage to the respiratory centers in the central nervous system (CNS). It can be congenital or acquired and can cause hypoventilation, inadequate gas exchange, and respiratory failure, often during sleep but sometimes even while awake. CHS can lead to respiratory failure and life-threatening complications if not identified promptly. In this report, we present a rare case of a patient with human immunodeficiency virus (HIV)/acquired immunodeficiency syndrome (AIDS), who developed CHS likely due to an opportunistic infection by cytomegalovirus (CMV) and varicella zoster virus (VZV), manifesting as a lesion in the …

From Covid-19 To Long Covid; The Forms Of The Neurological Manifestations, Sana Ahuja, Sufian Zaheer

Journal of Mind and Medical Sciences

Ever since the SARS-CoV-2 infection was declared a global pandemic in 2020, numerous multisystemic manifestations have been discovered. The COVID-19 is known to cause a wide spectrum of neurological symptoms like fatigue, headache, brain fog, stroke, smell and taste disorders, encephalopathy and neurodegenerative disorders. The neurological manifestations are more prevalent in the post-COVID syndrome or long COVID. The National Institute for Health and Care Excellence and WHO defined Ongoing Symptomatic COVID as 4-12 weeks post infection and post COVID-19 syndrome as persistence of symptoms beyond 12 weeks. So far there are limited data available regarding the pathophysiology of neurological symptoms …

Ciprofloxacin-Induced Peripheral Neuropathy: A Case Report, Alexander Refaeian, Eric L. Vest, Michael Schmidt, Jorge D. Guerra, Mohd N. Refaei, Michael Refaeian, Ryan A. Floresca, Manouchehr Refaeian

HCA Healthcare Journal of Medicine

Introduction

Fluoroquinolones, a class of antibiotics, are commonly employed in the treatment of a wide array of bacterial infections. Recognized for their effectiveness against a broad spectrum of pathogens, fluoroquinolones have played a pivotal role in managing conditions like urinary tract infections and respiratory diseases. Nevertheless, their usage is not without contention due to their association with a variety of adverse effects, including tendon rupture and the less frequently reported issue of peripheral neuropathy.

Case Presentation

We present the case of a 42-year-old male who developed peripheral neuropathy several days after completing a 10-day course of ciprofloxacin for gastroenteritis. The …

Autosomal Dominant Optic Atrophy Plus Syndrome, Aaron W. Case Od, Lovelee E. Sayomac Od, Matthew J. Anderson Od

Optometric Clinical Practice

Background: Dominant optic atrophy (DOA) is the most commonly encountered hereditary optic neuropathy in clinical practice and is the result of a mutation in the OPA1 or OPA3 genes encoding mitochondrial membrane proteins. The resultant mitochondrial dysfunction causes a distinct set of ophthalmic findings and may progress to extra-ocular systems known as OPA plus syndrome. We present a case of late-onset OPA plus syndrome encompassing both typical ophthalmic findings and the rarer extra-ocular findings. Case Report: A 41 year-old Caucasian male presents for a second opinion regarding a previously diagnosed traumatic optic neuropathy. Examination revealed decreased best-corrected acuities, …

Top Caregiver Concerns In Rett Syndrome And Related Disorders: Data From The Us Natural History Study, Jeffrey L Neul, Timothy A Benke, Eric D Marsh, Bernhard Suter, Lori Silveira, Cary Fu, Sarika U Peters, Alan K Percy

Faculty, Staff and Students Publications

OBJECTIVE: Recent advances in the understanding of neurodevelopmental disorders such as Rett syndrome (RTT) have enabled the discovery of novel therapeutic approaches that require formal clinical evaluation of efficacy. Clinical trial success depends on outcome measures that assess clinical features that are most impactful for affected individuals. To determine the top concerns in RTT and RTT-related disorders we asked caregivers to list the top caregiver concerns to guide the development and selection of appropriate clinical trial outcome measures for these disorders.

METHODS: Caregivers of participants enrolled in the US Natural History Study of RTT and RTT-related disorders (n = 925) …

A Novel Pathogenic Mutation Of Mecp2 Impairs Chromatin Association Independent Of Protein Levels, Jian Zhou, Claudia Cattoglio, Yingyao Shao, Harini P Tirumala, Carlo Vetralla, Sameer S Bajikar, Yan Li, Hu Chen, Qi Wang, Zhenyu Wu, Bing Tang, Mahla Zahabiyon, Aleksandar Bajic, Xiangling Meng, Jack J Ferrie, Anel Lagrone, Ping Zhang, Jean J Kim, Jianrong Tang, Zhandong Liu, Xavier Darzacq, Nathaniel Heintz, Robert Tjian, Huda Y Zoghbi

Faculty, Staff and Students Publications

Loss-of-function mutations in MECP2 cause Rett syndrome (RTT), a severe neurological disorder that mainly affects girls. Mutations in MECP2 do occur in males occasionally and typically cause severe encephalopathy and premature lethality. Recently, we identified a missense mutation (c.353G>A, p.Gly118Glu [G118E]), which has never been seen before in MECP2, in a young boy who suffered from progressive motor dysfunction and developmental delay. To determine whether this variant caused the clinical symptoms and study its functional consequences, we established two disease models, including human neurons from patient-derived iPSCs and a knock-in mouse line. G118E mutation partially reduces MeCP2 abundance …