Neurology Commons^™

A New Self-Assessment Questionnaire To Assess Parkinsonism: A Cross-Sectional Study, Sohail Khan

Pakistan Journal of Neurological Sciences (PJNS)

Background and Objective:

A composite scale for parkinsonism and Parkinson’s disease (PD) that incorporates multiple motor system symptoms and systemic complaints and their severity may help the busy clinician in documenting the severity and progression of common and bothersome symptoms. The objective of this study was to study a new scale, Parkinson’s Symptoms Questionnaire (PSQ), to assess and track progression of parkinsonism.

Methods:

This was a cross-sectional study that was conducted from August 2004 to December 2009 in a private clinic in State of Iowa, United States. We developed a new scale, PSQ, to assess common symptoms of …

Assessment Of Care-Arrangement Of People With Dementia In Karachi By 10/66 Protocol, Qurat Ul Ain Khan

Pakistan Journal of Neurological Sciences (PJNS)

Background and objective:

Pakistan is a low middle-income country (LMIC) in South Asia with a rising aging population. This study aimed to understand care-arrangement and resources of people with dementia (PWD) in Karachi, Pakistan.

Methods:

This cross-sectional mixed-method (qualitative and quantitative) study was carried out using 10/66 protocol for dementia patients. Data collection for the study was done from September 2016 till August 2017.This assessed characteristics of patients and caregivers, the economic impact of caregiving, and resources available to care for people with dementia (PWD).

Results:

One-hundred-nineteen PWD and their caregivers were included in the study. The average gross national …

Isoform-Level Transcriptome-Wide Association Uncovers Genetic Risk Mechanisms For Neuropsychiatric Disorders In The Human Brain, Arjun Bhattacharya, Daniel D Vo, Connor Jops, Minsoo Kim, Cindy Wen, Jonatan L Hervoso, Bogdan Pasaniuc, Michael J Gandal

Faculty, Staff and Student Publications

Methods integrating genetics with transcriptomic reference panels prioritize risk genes and mechanisms at only a fraction of trait-associated genetic loci, due in part to an overreliance on total gene expression as a molecular outcome measure. This challenge is particularly relevant for the brain, in which extensive splicing generates multiple distinct transcript-isoforms per gene. Due to complex correlation structures, isoform-level modeling from cis-window variants requires methodological innovation. Here we introduce isoTWAS, a multivariate, stepwise framework integrating genetics, isoform-level expression and phenotypic associations. Compared to gene-level methods, isoTWAS improves both isoform and gene expression prediction, yielding more testable genes, and increased power …

Functional And Anatomical Connectivity Predict Brain Stimulation’S Mnemonic Effects, Youssef Ezzyat, James E> Kragel, Ethan A. Solomon, Bradley C. Lega, Joshua P. Aronson, Barbara C. Jobst, Robert E. Gross, Michael R. Sperling, Gregory A. Worrell, Sameer A. Sheth, Paul A. Wanda, Daniel S. Rizzuto, Michael J. Kahana

Department of Neurology Faculty Papers

Closed-loop direct brain stimulation is a promising tool for modulating neural activity and behavior. However, it remains unclear how to optimally target stimulation to modulate brain activity in particular brain networks that underlie particular cognitive functions. Here, we test the hypothesis that stimulation's behavioral and physiological effects depend on the stimulation target's anatomical and functional network properties. We delivered closed-loop stimulation as 47 neurosurgical patients studied and recalled word lists. Multivariate classifiers, trained to predict momentary lapses in memory function, triggered the stimulation of the lateral temporal cortex (LTC) during the study phase of the task. We found that LTC …

Precision Therapy For A Medically Actionable Atp1a3 Variant From A Genomic Medicine Program In An Underserved Population, Cara P Ford, Rebecca O Littlejohn, Ryan German, Blake Vuocolo, Jose Aceves, Liesbeth Vossaert, Nichole Owen, Michael Wangler, Carrie A Schmid

Duncan NRI Faculty and Staff Publications

Background: Genomic medicine is revolutionizing the diagnosis of rare diseases, but the implementation has not benefited underrepresented populations to the same degree. Here, we report the case of a 7-year-old boy with hypotonia, global developmental delay, strabismus, seizures, and previously suspected mitochondrial myopathy. This proband comes from an underrepresented minority and was denied exome sequencing by his public insurance.

Methods: After informed consent was obtained, buccal cells from the proband were collected and whole exome sequencing was performed. Illumina Dragen and Emedgene software was used to analyze the data at Baylor Genetics. The variants were further intepreted according to ACMG …

Brain-Wide Correspondence Of Neuronal Epigenomics And Distant Projections, Jingtian Zhou, Zhuzhu Zhang, May Wu, Hanqing Liu, Yan Pang, Anna Bartlett, Zihao Peng, Wubin Ding, Angeline Rivkin, Will N Lagos, Elora Williams, Cheng-Ta Lee, Paula Assakura Miyazaki, Andrew Aldridge, Qiurui Zeng, J L Angelo Salinda, Naomi Claffey, Michelle Liem, Conor Fitzpatrick, Lara Boggeman, Zizhen Yao, Kimberly A Smith, Bosiljka Tasic, Jordan Altshul, Mia A Kenworthy, Cynthia Valadon, Joseph R Nery, Rosa G Castanon, Neelakshi S Patne, Minh Vu, Mohammad Rashid, Matthew Jacobs, Tony Ito, Julia Osteen, Nora Emerson, Jasper Lee, Silvia Cho, Jon Rink, Hsiang-Hsuan Huang, António Pinto-Duartec, Bertha Dominguez, Jared B Smith, Carolyn O'Connor, Hongkui Zeng, Shengbo Chen, Kuo-Fen Lee, Eran A Mukamel, Xin Jin, M Margarita Behrens, Joseph R Ecker, Edward M Callaway

Faculty, Staff and Student Publications

Single-cell analyses parse the brain’s billions of neurons into thousands of ‘cell-type’ clusters residing in different brain structures1. Many cell types mediate their functions through targeted long-distance projections allowing interactions between specific cell types. Here we used epi-retro-seq2 to link single-cell epigenomes and cell types to long-distance projections for 33,034 neurons dissected from 32 different regions projecting to 24 different targets (225 source-to-target combinations) across the whole mouse brain. We highlight uses of these data for interrogating principles relating projection types to transcriptomics and epigenomics, and for addressing hypotheses about cell types and connections related to genetics. …

Single-Cell Dna Methylome And 3d Multi-Omic Atlas Of The Adult Mouse Brain, Hanqing Liu, Qiurui Zeng, Jingtian Zhou, Anna Bartlett, Bang-An Wang, Peter Berube, Wei Tian, Mia Kenworthy, Jordan Altshul, Joseph R Nery, Huaming Chen, Rosa G Castanon, Songpeng Zu, Yang Eric Li, Jacinta Lucero, Julia K Osteen, Antonio Pinto-Duarte, Jasper Lee, Jon Rink, Silvia Cho, Nora Emerson, Michael Nunn, Carolyn O'Connor, Zhanghao Wu, Ion Stoica, Zizhen Yao, Kimberly A Smith, Bosiljka Tasic, Chongyuan Luo, Jesse R Dixon, Hongkui Zeng, Bing Ren, M Margarita Behrens, Joseph R Ecker

Faculty, Staff and Student Publications

Cytosine DNA methylation is essential in brain development and is implicated in various neurological disorders. Understanding DNA methylation diversity across the entire brain in a spatial context is fundamental for a complete molecular atlas of brain cell types and their gene regulatory landscapes. Here we used single-nucleus methylome sequencing (snmC-seq3) and multi-omic sequencing (snm3C-seq)1 technologies to generate 301,626 methylomes and 176,003 chromatin conformation–methylome joint profiles from 117 dissected regions throughout the adult mouse brain. Using iterative clustering and integrating with companion whole-brain transcriptome and chromatin accessibility datasets, we constructed a methylation-based cell taxonomy with 4,673 cell groups and 274 …

Characteristic Dynamic Functional Connectivity During Sevoflurane-Induced General Anesthesia, J. Miao, M. Tantawi, Mahdi Alizadeh, Sara Thalheimer, Faezeh Vedaei, Victor Romo, Feroze B. Mohamed, Chengyuan Wu

Department of Neurosurgery Faculty Papers

General anesthesia (GA) during surgery is commonly maintained by inhalational sevoflurane. Previous resting state functional MRI (rs-fMRI) studies have demonstrated suppressed functional connectivity (FC) of the entire brain networks, especially the default mode networks, transitioning from the awake to GA condition. However, accuracy and reliability were limited by previous administration methods (e.g. face mask) and short rs-fMRI scans. Therefore, in this study, a clinical scenario of epilepsy patients undergoing laser interstitial thermal therapy was leveraged to acquire 15 min of rs-fMRI while under general endotracheal anesthesia to maximize the accuracy of sevoflurane level. Nine recruited patients had fMRI acquired during …

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 …

Precision Recruitment And Engagement Of Individuals At Risk For Diabetes And Hypertension In Clinical Trials (Predhict): A Randomized Trial For An E-Persuasive Mobile Application To Inform Decision Making About Clinical Trials, Azizi Seixas, Shannique Richards, Jesse Q Moore, Chigozirim Izeogu, Laronda A Hollimon, Peng Jin, Girardin Jean-Louis

Faculty, Staff and Student Publications

The primary objective of this randomized trial was to test the effectiveness of the PREDHiCT digital application, which provides educational and supportive navigation to increase willingness to participate in a future clinical trial. The second objective was to test whether PREDHiCT increased clinical trial literacy or enhanced psychological facilitators of clinical trial participation, such as altruism. To test these two objectives, we conducted a 1-month remote decentralized trial with 100 participants who either have a personal or family history of cardiometabolic health conditions, such as hypertension, diabetes, and obesity. Results indicated significant changes in altruism (mean: -2.94 vs. 0.83;

Multifocal Ectopic Recurrence Of A C2 Chordoma, Maikerly Reyes, Allison Kayne, Sarah Collopy, Giyarpuram Prashant, Patrick Kelly, James J. Evans

Department of Neurosurgery Faculty Papers

Background

Chordomas are histologically benign but locally aggressive tumors with a high propensity to recur. Our case highlights the importance of long-term vigilance in patients who have undergone chordoma resection.

Case Report

We report the case of a 47-year-old man with a cervical chordoma who developed multiple musculoskeletal ectopic recurrences in the left supraclavicular region, the proximal right bicep, and the left submandibular region without recurrence in the primary tumor site. Primary tumor resection was achieved via a combination of surgery, adjuvant radiation therapy, and imatinib. All recurrences were successfully resected and confirmed via pathology to be ectopic chordoma.

Discussion …

Brain-Derived Neurotrophic Factor – A Key Player In The Gastrointestinal System, Arjun Singh

Jefferson Hospital Staff Papers and Presentations

Brain-derived neurotrophic factor (BDNF) is highly expressed throughout the gastrointestinal (GI) tract and plays a critical role in the regulation of intestinal motility, secretion, sensation, immunity, and mucosal integrity. Dysregulation of BDNF signalling has been implicated in the pathophysiology of various GI disorders including inflammatory bowel disease, irritable bowel syndrome, functional dyspepsia, and diabetic gastroenteropathy. This review provides a comprehensive overview of BDNF localization, synthesis, receptors, and signalling mechanisms in the gut. In addition, current evidence on the diverse physiologic and pathophysiologic roles of BDNF in the control of intestinal peristalsis, mucosal transport processes, visceral sensation, neuroimmune interactions, gastrointestinal mucosal …

Tert Immunohistochemistry As A Surrogate Marker For Tert Promoter Mutations In Infiltrating Gliomas, Gillian Gordon Perue, Hao Ying, Antonio Bustillo, Lili Zhou, Carolina M Gutierrez, Hannah E Gardener, Judith Krigman, Angus Jameson, Chuanhui Dong, Tatjana Rundek, David Z Rose, Jose G Romano, Ayham Alkhachroum, Ralph L Sacco, Negar Asdaghi, Sebastian Koch

Faculty, Staff and Student Publications

BACKGROUND: Guideline-based hypertension management is integral to the prevention of stroke. We examine trends in antihypertensive medications prescribed after stroke and assess how well a prescriber's blood pressure (BP) medication choice adheres to clinical practice guidelines (BP-guideline adherence).

METHODS AND RESULTS: The FSR (Florida Stroke Registry) uses statewide data prospectively collected for all acute stroke admissions. Based on established guidelines, we defined optimal BP-guideline adherence using the following hierarchy of rules: (1) use of an angiotensin-converting enzyme inhibitor or angiotensin receptor blocker as first-line antihypertensive among diabetics; (2) use of thiazide-type diuretics or calcium channel blockers among Black patients; (3) …

Durable Responses At 24 Months With High-Frequency Spinal Cord Stimulation For Nonsurgical Refractory Back Pain, Naresh P. Patel, Jessica Jameson, Curtis Johnson, Daniel Kloster, Aaron Calodney, Peter Kosek, Julie Pilitsis, Markus Bendel, Erika Petersen, Chengyuan Wu, Taissa Cherry, Shivanand Lad, Cong Yu, Dawood Sayed, Johnathan Goree, Mark K. Lyons, Andrew Sack, Diana Bruce, Manish Bharara, Rose Province-Azalde, David Caraway, Leonardo Kapural

Department of Neurosurgery Faculty Papers

OBJECTIVE: The objective of this study was to evaluate the 24-month durability of pain relief, function, quality of life, and safety outcomes for patients with nonsurgical refractory back pain (NSRBP) treated with high-frequency spinal cord stimulation (SCS) within a large, national, multicenter randomized controlled trial (RCT).

METHODS: Following the completion of an RCT comparing high-frequency SCS plus CMM with CMM alone for the treatment of NSRBP, patients gave additional consent for a follow-up extension to 24 months. Presented is the cohort analysis of all patients treated with high-frequency SCS following the optional crossover at 6 months. The outcomes assessed to …

Association Between Trigeminal Neuralgia And Degenerative Cervical Myelopathy: A Cross‐Sectional Study Using Us Data, Robert J. Trager

Faculty Scholarship

Background: Limited research has suggested that trigeminal neuralgia (TN), an often-idiopathic pain disorder affecting the face and head, may arise from compression of the cervical spinal cord due to involvement of the spinal trigeminal tract. We hypothesized that adults with TN would have a greater likelihood of concurrent degenerative cervical myelopathy (DCM) compared to matched adults without TN. Methods: We retrieved de-identified data from a US network (TriNetX, Inc.) including medical records of >113 million patients, with a query date of October 1, 2023, and data spanning the previous 20 years. We created two groups of adults (aged ≥18 years): …

Internet Analytics Of An Innovative Digital Educational Resource Of Type 1 Diabetes Hellotype1 In Local Languages For People Living With Diabetes Families And Healthcare Professionals In Southeast Asia, Sze May Ng, I V Malene, Thy Khue Nguyen, Khuong Le, Yang Xian Lucas Lim, Ngee Lek, Samantha Seal, Steffen Yun Tange, Azriyanti Anuar Zaini, Taninee Sahakitrungruang, Anne Charlotte Ficheroulle

Faculty, Staff and Student Publications

BACKGROUND: There is minimal data of health outcomes for Type 1 Diabetes (T1D) in Southeast Asia (SEA) where government funding of insulin and blood glucose monitoring either do not exist or is limited. The full impact of Covid-19 pandemic on the national economies of SEA remain unknown. In the midst of the pandemic, in 2021, HelloType1 was developed by Action4Diabetes (A4D), a non-government organisation charity in collaboration with Southeast Asia local healthcare professionals as an innovative digital educational resource platform of T1D in local languages. HelloType1 was launched in Cambodia, Vietnam, Thailand and Malaysia in 2021 to 2022 with Memorandums …

Indices Of Narrative Language Associated With Disability, Norah M Almubark, Gabriela Silva-Maceda, Matthew E Foster, Trina D Spencer

Faculty, Staff and Student Publications

Narratives skills are associated with long-term academic and social benefits. While students with disabilities often struggle to produce complete and complex narratives, it remains unclear which aspects of narrative language are most indicative of disability. In this study, we examined the association between a variety of narrative contents and form indices and disability. Methodology involved drawing 50 K-3 students with Individual Education Programs (IEP) and reported language concerns from a large diverse sample (n = 1074). Fifty typically developing (TD) students were matched to the former group using propensity score matching based on their age, gender, grade, mother’s education, …

Cavernous Malformations Of The Central Nervous System: An International Consensus Statement, Anastasia Tasiou, Alexandros G. Brotis, Adamantios Kalogeras, Christos Tzerefos, Cargill H. Alleyne, Alexandros Andreou, Andreas K. Demetriades, Nikolaos Foroglou, Robert M. Friedlander, Bengt Karlsson, Neil Kitchen, Torstein R. Meling, Aristotelis Mitsos, Vasilios Panagiotopoulos, Themistoklis Papasilekas, Giacomo Pavesi, Lukas Rasulic, Alejandro N. Santos, Robert F. Spetxler, Ulrich Sure, Stavropoula Tjoumakaris, Christos M. Tolias, Peter Vajkoczy, Kostas N. Fountas

Department of Neurosurgery Faculty Papers

Introduction: Cavernous malformations (CM) of the central nervous system constitute rare vascular lesions. They are usually asymptomatic, which has allowed their management to become quite debatable. Even when they become symptomatic their optimal mode and timing of treatment remains controversial.

Research question: A consensus may navigate neurosurgeons through the decision-making process of selecting the optimal treatment for asymptomatic and symptomatic CMs.

Material and methods: A 17-item questionnaire was developed to address controversial issues in relation to aspects of the treatment, surgical planning, optimal surgical strategy for specific age groups, the role of stereotactic radiosurgery, as well as a follow-up pattern. …

Impaired Discourse Content In Aphasia Is Associated With Frontal White Matter Damage, Junhua Ding, Erica L. Middleton, Daniel Mirman

Moss-Magee Rehabilitation Papers

Aphasia is a common consequence of stroke with severe impacts on employability, social interactions and quality of life. Producing discourse-relevant information in a real-world setting is the most important aspect of recovery because it is critical to successful communication. This study sought to identify the lesion correlates of impaired production of relevant information in spoken discourse in a large, unselected sample of participants with post-stroke aphasia. Spoken discourse (n = 80) and structural brain scans (n = 66) from participants with aphasia following left hemisphere stroke were analysed. Each participant provided 10 samples of spoken discourse elicited in three different …

Deep Histopathology Genotype-Phenotype Analysis Of Focal Cortical Dysplasia Type Ii Differentiates Between The Gator1-Altered Autophagocytic Subtype Iia And Mtor-Altered Migration Deficient Subtype Iib, Jonas Honke, Lucas Hoffmann, Roland Coras, Katja Kobow, Costin Leu, Tom Pieper, Till Hartlieb, Christian G Bien, Friedrich Woermann, Thomas Cloppenborg, Thilo Kalbhenn, Ahmed Gaballa, Hajo Hamer, Sebastian Brandner, Karl Rössler, Arnd Dörfler, Stefan Rampp, Johannes R Lemke, Sara Baldassari, Stéphanie Baulac, Dennis Lal, Peter Nürnberg, Ingmar Blümcke

Faculty, Staff and Student Publications

Focal cortical dysplasia type II (FCDII) is the most common cause of drug-resistant focal epilepsy in children. Herein, we performed a deep histopathology-based genotype–phenotype analysis to further elucidate the clinico-pathological and genetic presentation of FCDIIa compared to FCDIIb. Seventeen individuals with histopathologically confirmed diagnosis of FCD ILAE Type II and a pathogenic variant detected in brain derived DNA whole-exome sequencing or mTOR gene panel sequencing were included in this study. Clinical data were directly available from each contributing centre. Histopathological analyses were performed from formalin-fixed, paraffin-embedded tissue samples using haematoxylin–eosin and immunohistochemistry for NF-SMI32, NeuN, pS6, p62, and vimentin. Ten …