Neurology Commons^™

Fly Cell Atlas: A Single-Nucleus Transcriptomic Atlas Of The Adult Fruit Fly, Hongjie Li, Jasper Janssens, Maxime De Waegeneer, Sai Saroja Kolluru, Kristofer Davie, Vincent Gardeux, Wouter Saelens, Fabrice P A David, Maria Brbić, Katina Spanier, Jure Leskovec, Colleen N Mclaughlin, Qijing Xie, Robert C Jones, Katja Brueckner, Jiwon Shim, Sudhir Gopal Tattikota, Frank Schnorrer, Katja Rust, Todd G Nystul, Zita Carvalho-Santos, Carlos Ribeiro, Soumitra Pal, Sharvani Mahadevaraju, Teresa M Przytycka, Aaron M Allen, Stephen F Goodwin, Cameron W Berry, Margaret T Fuller, Helen White-Cooper, Erika L Matunis, Stephen Dinardo, Anthony Galenza, Lucy Erin O'Brien, Julian A T Dow, Fca Consortium, Heinrich Jasper, Brian Oliver, Norbert Perrimon, Bart Deplancke, Stephen R Quake, Liqun Luo, Stein Aerts, Devika Agarwal, Yasir Ahmed-Braimah, Michelle Arbeitman, Majd M Ariss, Jordan Augsburger, Kumar Ayush, Catherine C Baker, Torsten Banisch, Katja Birker, Rolf Bodmer, Benjamin Bolival, Susanna E Brantley, Julie A Brill, Nora C Brown, Norene A Buehner, Xiaoyu Tracy Cai, Rita Cardoso-Figueiredo, Fernando Casares, Amy Chang, Thomas R Clandinin, Sheela Crasta, Claude Desplan, Angela M Detweiler, Darshan B Dhakan, Erika Donà, Stefanie Engert, Swann Floc'hlay, Nancy George, Amanda J González-Segarra, Andrew K Groves, Samantha Gumbin, Yanmeng Guo, Devon E Harris, Yael Heifetz, Stephen L Holtz, Felix Horns, Bruno Hudry, Ruei-Jiun Hung, Yuh Nung Jan, Jacob S Jaszczak, Gregory S X E Jefferis, Jim Karkanias, Timothy L Karr, Nadja Sandra Katheder, James Kezos, Anna A Kim, Seung K Kim, Lutz Kockel, Nikolaos Konstantinides, Thomas B Kornberg, Henry M Krause, Andrew Thomas Labott, Meghan Laturney, Ruth Lehmann, Sarah Leinwand, Jiefu Li, Joshua Shing Shun Li, Kai Li, Ke Li, Liying Li, Tun Li, Maria Litovchenko, Han-Hsuan Liu, Yifang Liu, Tzu-Chiao Lu, Jonathan Manning, Anjeli Mase, Mikaela Matera-Vatnick, Neuza Reis Matias, Caitlin E Mcdonough-Goldstein, Aaron Mcgeever, Alex D Mclachlan, Paola Moreno-Roman, Norma Neff, Megan Neville, Sang Ngo, Tanja Nielsen, Caitlin E O'Brien, David Osumi-Sutherland, Mehmet Neset Özel, Irene Papatheodorou, Maja Petkovic, Clare Pilgrim, Angela Oliveira Pisco, Carolina Reisenman, Erin Nicole Sanders, Gilberto Dos Santos, Kristin Scott, Aparna Sherlekar, Philip Shiu, David Sims, Rene V Sit, Maija Slaidina, Harold E Smith, Gabriella Sterne, Yu-Han Su, Daniel Sutton, Marco Tamayo, Michelle Tan, Ibrahim Tastekin, Christoph Treiber, David Vacek, Georg Vogler, Scott Waddell, Wanpeng Wang, Rachel I Wilson, Mariana F Wolfner, Yiu-Cheung E Wong, Anthony Xie, Jun Xu, Shinya Yamamoto, Jia Yan, Zepeng Yao, Kazuki Yoda, Ruijun Zhu, Robert P Zinzen

Duncan NRI Faculty and Staff Publications

For more than 100 years, the fruit fly Drosophila melanogaster has been one of the most studied model organisms. Here, we present a single-cell atlas of the adult fly, Tabula Drosophilae, that includes 580,000 nuclei from 15 individually dissected sexed tissues as well as the entire head and body, annotated to >250 distinct cell types. We provide an in-depth analysis of cell type-related gene signatures and transcription factor markers, as well as sexual dimorphism, across the whole animal. Analysis of common cell types between tissues, such as blood and muscle cells, reveals rare cell types and tissue-specific subtypes. This …

Covid-19 In Cns And Pns: Basic And Clinical Focus On The Mechanisms Of Infection And New Tools For The Therapeutic Approach, Jorge Matias-Guiu, Jordi A. Matias-Guiu, Carmen Garrido, Genaro Pimienta, Patricio F. Reyes, Abdul Mannan Baig, Ulises Gomez-Pinedo

Department of Biological & Biomedical Sciences

No abstract provided.

Daam2 Regulates Myelin Structure And The Oligodendrocyte Actin Cytoskeleton Through Rac1 And Gelsolin, Carlo D Cristobal, Chih-Yen Wang, Zhongyuan Zuo, Joshua A Smith, Aaron Lindeke-Myers, Hugo J Bellen, Hyun Kyoung Lee

Duncan NRI Faculty and Staff Publications

Myelin is essential to neuronal health and CNS function, and oligodendrocytes (OLs) undergo a complex process of cytoskeletal remodeling to form compact myelin sheaths. We previously discovered that a formin protein, Dishevelled associated activator of morphogenesis 2 (Daam2), suppresses OL differentiation through Wnt signaling; however, its role in cytoskeletal control remains unknown. To investigate this, we used OL-specific Daam2 conditional knockout (Daam2 cKO) mice of either sex and found myelin decompaction during an active period of myelination in postnatal development and motor coordination deficits in adulthood. Using primary OL cultures, we found Daam2-depleted OLs showed morphologic dysregulation during differentiation, suggesting …

Role Of Surgery In Multifocal Glioblastoma, Syeda Kubra Kishwar Jafri, Syed Sarmad Bukhari, Muhammad Shahzad Shamim

Section of Neurosurgery

The management of multifocal glioblastomas is a point of constant discussion amongst neuro-oncologists. Best outcomes in glioblastoma management come from gross total resection (GTR) followed by concomitant radiation and chemotherapy (CCRT). Multifocal disease is resistant to GTR. Conventional management of these lesion is usually biopsy only followed by CCRT. Recent evidence has shown that there may be some benefit to attempting GTR of the largest lesion whenever safe to do so.

Misperception About Epilepsy Among Common Public In Balochistan, Muhammad Essa, Gulandam ., Saleem Barech, Amanullah Kakar, Ihsan-Ul-Haq Zarkon, Suhail Mari, Muhammad Dawood, Tahir Shah

Pakistan Journal of Neurological Sciences (PJNS)

ABSTRACT Background and Objective: Epilepsy is a treatable chronic neurological illness that is frequently associated with supernatural activity. The objectives of this study were to determine common myths and misperception about epilepsy by analysing a comprehensive panel of variables in our local population. Methods: We conducted a face-to-face questionnaire interview survey in three different shopping malls. One thousand people were randomly enrolled in this cross-sectional study at Quetta, Baluchistan, during the period of 21 august 2021 to 30 august 2021.

Results: A total of 1000 people were interviewed; among them 220(22%) were male and 780(78%) were female. Individuals between the …

Screening For Depression And Anxiety Among Medical And Dental Students Who Are Forced Into Their Field Of Study, Sohail Ahmed Khan, Asvad Ahmad Khan, Asiyah Ahmed

Pakistan Journal of Neurological Sciences (PJNS)

ABSTRACT Background and Objective: The study hypothesized that the students who are forced to enter the medical field by their parents may have a higher incidence of depression and anxiety.

Methods: A total of 210 medical and dental students were asked to fill out a form indicating their desire to enter medical college versus their parents’ wishes on an analogue scale. They were also asked to fill out screening forms for depression and anxiety.

Results: The students who selected the medical field by their parent’s wishes were found to have 1.2 times more anxiety & 1.96 times more depression. Conclusions: …

Prolonged Psychosis Before Onset Of Neurological Symptoms: An Atypical Clinical Manifestation Of Huntington’S Disease, Marium Mansoor, Nida Rahman Khan, Alviya Shaique

Pakistan Journal of Neurological Sciences (PJNS)

Huntington's disease (HD) is a rare, autosomal dominant, progressive neurodegenerative disorder. HD manifests with a triad of progressive motor, cognitive, and psychiatric symptoms. Our patient was a 39-years-old married female with over a nine-year history of psychotic symptoms. The patient was diagnosed and treated for schizophrenia. Over the last 2-3 years, the patient had a progressive decline in her Activities of Daily Living, instrumental activities of daily living, and psychotic symptoms. She developed slurred speech, gait disturbances, frequent falls, involuntary movements of the trunk and distal extremities, bowel and bladder incontinence, and severe weight loss. Her genetic test for Huntington’s …

A Case Of Ulcerative Colitis Presenting With Cerebral Venous Thrombosis, Zaid Waqar

Pakistan Journal of Neurological Sciences (PJNS)

Ulcerative Colitis is an autoimmune inflammatory bowel disease causing abdominal pain, bloody diarrhea and malnutrition and is associated with intestinal and extra intestinal complications. The clinical course has remissions and flare ups. Thromboembolism is a known risk associated with ulcerative colitis. Here we present a case of a young man who presented with a flare up of ulcerative colitis and developed neurological deficits that were diagnosed as due to cerebral venous thrombosis. Cerebral venous thrombosis is a rare complication of ulcerative colitis and can be missed without proper work up and consideration of diagnosis.

A Multidisciplinary Approach And Consensus Statement To Establish Standards Of Care For Angelman Syndrome, Jessica Duis, Mark Nespeca, Jane Summers, Lynne Bird, Karen G C B Bindels-De Heus, M J Valstar, Marie-Claire Y De Wit, C Navis, Maartje Ten Hooven-Radstaake, Bianca M Van Iperen-Kolk, Susan Ernst, Melina Dendrinos, Terry Katz, Gloria Diaz-Medina, Akshat Katyayan, Srishti Nangia, Ronald Thibert, Daniel Glaze, Christopher Keary, Karine Pelc, Nicole Simon, Anjali Sadhwani, Helen Heussler, Anne Wheeler, Caroline Woeber, Margaret Deramus, Amy Thomas, Emily Kertcher, Lauren Devalk, Kristen Kalemeris, Kara Arps, Carol Baym, Nicole Harris, John P Gorham, Brenda L Bohnsack, Reid C Chambers, Sarah Harris, Henry G Chambers, Katherine Okoniewski, Elizabeth R Jalazo, Allyson Berent, Carlos A Bacino, Charles Williams, Anne Anderson

Duncan NRI Faculty and Staff Publications

Background: Angelman syndrome (AS) is a rare neurogenetic disorder present in approximately 1/12,000 individuals and characterized by developmental delay, cognitive impairment, motor dysfunction, seizures, gastrointestinal concerns, and abnormal electroencephalographic background. AS is caused by absent expression of the paternally imprinted gene UBE3A in the central nervous system. Disparities in the management of AS are a major problem in preparing for precision therapies and occur even in patients with access to experts and recognized clinics. AS patients receive care based on collective provider experience due to limited evidence-based literature. We present a consensus statement and comprehensive literature review that proposes a …

Post Covid Anti-Nmdar Encephalitis In An Adolescent Girl, Javeria Raza Alvi, Muhammad Haider Sultan, Tipu Sultan

Pakistan Journal of Neurological Sciences (PJNS)

Anti-N-Methyl D-aspartate receptor (NMDAR) encephalitis is a neuro-inflammatory disorder caused by antibodies targeting neurons in the central nervous system. Certain viruses break immune tolerance of neuronal proteins and increase the permeability of blood brain barrier (BBB) to antibodies resulting in post infectious autoimmunity. We report a case about a 13 years old girl diagnosed as a case of anti-NMDAR encephalitis, who presented with psychiatric symptoms followed by abnormal movements and encephalopathy, with later development of autonomic instability with tachycardia and blood pressure at 98th centile. Her thyroid profile initially showed hyperthyroidism with negative anti-thyroid antibodies with subsequent normalization without anti-thyroid …

Stroke: Are Women Worse Off?, Maria Khan

Pakistan Journal of Neurological Sciences (PJNS)

Stroke is a leading cause of death and disability worldwide. Although the age standardized rates of stroke have fallen, the absolute number of strokes continue to rise, particularly in the low and middle income countries. It was long recognized that women have a lower age-standardized incidence of stroke. This understanding has been challenged by the Global burden of Disease Study 2019 which highlights that although the total number of Disability Adjusted Life Years (DALYs) from stroke were higher in males compared to females, the number of incident and prevalent strokes were higher in females. In addition, the study did not …

World Brain Day- Brain Health For All, Safa Younis

Pakistan Journal of Neurological Sciences (PJNS)

World Brain Day is celebrated annually on July 22nd, and this year’s theme was “Brain Health for All”. In honor of World Brain Day, Aga Khan University, in collaboration with the World Federation of Neurology, hosted an international webinar moderated by Dr. Shafaq Saleem. Dr. Mohammad Wasay commenced the session by discussing the importance of WHO’s adoption of the Intersectoral Global Action Plan on epilepsy and other neurological disorders. He discussed how significantly this 10-year action plan will improve neurological training, awareness, and advocacy. He explained how this webinar would unpack problems related to neurological care in different parts of …

Multiple Sclerosis Care In Pakistan; Analysis Of Data Presented At First Paktrims Conference, Zara Shah, Haris Majid, Sadia Nishat, Sumera Rafat Umer, Sundus Mehtab Shafee, Ahmed Wali, Naila Shahbaz

Pakistan Journal of Neurological Sciences (PJNS)

Novel data on Multiple Sclerosis (MS) in Pakistan from leading institutes in the country was presented at the first Pakistan Treatment in Multiple Sclerosis (PAKTRIMS) Conference, organized by the section of Neurology, department of Medicine, Aga Khan University, Karachi on Saturday, December 18, 2021. Pakistan has been considered to have a low prevalence of MS; however, recent research reveals that it is not as uncommon as previously believed to be in the country. The true prevalence and incidence of MS in the country is unknown because of dearth of research. Data of MS patients enrolled in various private and public …

Apolipoprotein E Proteinopathy Is A Major Dementia-Associated Pathologic Biomarker In Individuals With Or Without The Apoe Epsilon 4 Allele, Jozsef Gal, Yuriko Katsumata, Haining Zhu, Sukanya Srinivasan, Jing Chen, Lance Allen Johnson, Wang-Xia Wang, Lesley Renee Golden, Donna M. Wilcock, Gregory A. Jicha, Matthew D. Cykowski, Peter Tobias Nelson

Spinal Cord and Brain Injury Research Center Faculty Publications

The amygdala is vulnerable to multiple or “mixed” mis-aggregated proteins associated with neurodegenerative conditions that can manifest clinically with amnestic dementia; the amygdala region is often affected even at earliest disease stages. With the original intent of identifying novel dementiaassociated proteins, the detergent-insoluble proteome was characterized from the amygdalae of 40 participants from the University of Kentucky Alzheimer’s Disease Center autopsy cohort. These individuals encompassed a spectrum of clinical conditions (cognitively normal to severe amnestic dementia). Polypeptides from the detergent-insoluble fraction were interrogated using liquid chromatography-electrospray ionization-tandem mass spectrometry. As anticipated, portions of peptides previously associated with neurologic diseases were …

A Sacral Filum Terminale Arteriovenous Fistula Fed By A Left T9 Artery Of Adamkiewicz, Kareem El Naamani, Rawad Abbas, Georgios S. Sioutas, Abdelaziz Amllay, Alfredo Munoz, Nabeel Herial, Stavropoula Tjoumakaris, Michael Reid Gooch, James Harrop, Robert H. Rosenwasswer, Pascal Jabbour

Department of Neurosurgery Faculty Papers

This is a case of 62-year-old patient presenting with tingling and numbness extending from the buttocks area towards the lower extremities and gait instability. Contrast Magnetic Resonance Imaging (MRI) and time-resolved imaging of contrast kinetics Magnetic Resonance Imaging (TRICKS MRI) raised suspicion for a possible dural arteriovenous fistula. Diagnostic Digital Subtraction Angiography (DSA) showed a filum terminale arterio venous fistula (AVF) fed by the left T9 from the anterior spinal artery of Adamkiewicz all the way down to the fistulous point at L5-S1. The patient underwent successful laminectomy of L5-S1 and clipping of the filum terminale arteriovenous fistula.

Clinical Exome Sequencing Data Reveal High Diagnostic Yields For Congenital Diaphragmatic Hernia Plus (Cdh+) And New Phenotypic Expansions Involving Cdh, Tiana M Scott, Ian M Campbell, Andres Hernandez-Garcia, Seema R Lalani, Pengfei Liu, Chad A Shaw, Jill A Rosenfeld, Daryl A Scott

Duncan NRI Faculty and Staff Publications

Background: Congenital diaphragmatic hernia (CDH) is a life-threatening birth defect that often co-occurs with non-hernia-related anomalies (CDH+). While copy number variant (CNV) analysis is often employed as a diagnostic test for CDH+, clinical exome sequencing (ES) has not been universally adopted.

Methods: We analysed a clinical database of ~12 000 test results to determine the diagnostic yields of ES in CDH+ and to identify new phenotypic expansions.

Results: Among the 76 cases with an indication of CDH+, a molecular diagnosis was made in 28 cases for a diagnostic yield of 37% (28/76). A provisional diagnosis was made in seven other …

Fungi: Friend Or Foe? A Mycobiome Evaluation In Children With Autism And Gastrointestinal Symptoms, Jane Alookaran, Yuying Liu, Thomas A Auchtung, Amirali Tahanan, Manouchehr Hessabi, Parisa Asgarisabet, Mohammad H Rahbar, Nicole Y Fatheree, Deborah A Pearson, Rosleen Mansour, Melissa R Van Arsdall, Fernando Navarro, J Marc Rhoads

Faculty, Staff and Student Publications

Gastrointestinal (GI) symptoms often affect children with autism spectrum disorders (ASD) and GI symptoms have been associated with an abnormal fecal microbiome. There is limited evidence of Candida species being more prevalent in children with ASD. We enrolled 20 children with ASD and GI symptoms (ASD+GI), 10 children with ASD but no GI symptoms (ASD−GI), and 20 from typically developing (TD) children (TD) in this pilot study. Fecal mycobiome taxa were analyzed by ITS sequencing. GI symptoms (GI Severity Index (GSI)), behavioral symptoms (Social Responsiveness Scale −2 (SRS-2)), inflammation and fungal immunity (fecal calprotectin and serum dectin-1 (ELISA)) were evaluated. …

Is Shunt Location A Risk Factor For The Development Of De Novo Post-Shunt Seizures?, Hanieh Bazrafshan, Mohamad Sadegh Masoudi, Mehdi Bazrafshan, Ali Akbar Asadi-Pooya

Department of Neurology Faculty Papers

Background: While ventriculo-extracranial shunting procedures have been the standard treatment option for hydrocephalus for a long time, their long-term morbidity, including the development of post-shunt de Novo seizures, should be taken into account. This study aimed to investigate the rate and risk factors of the occurrence of de Novo post-shunt seizures in patients with hydrocephalus.

Methods: In this retrospective longitudinal study, all patients with hydrocephalus who had ventriculo-peritoneal shunt insertion from 2014 to 2017 at Namazi Hospital, (Shiraz, Iran) were studied. Phone calls were made to all patients to obtain their postoperative seizure outcome and other data (e.g., sex, age …

Gender Parity In Authorship Of Published Randomized Clinical Trials In Stroke Neurology From 2000 To 2021., Noor F Shaik, Ali A Saherwala, Diana L Tzeng

Department of Neurology Faculty Papers

Gender parity is a crucial goal in clinical medicine so that women have equal access and representation. Although approximately half (46%) of US neurology residents and fellows are female, proportions of female assistant, associate, and full professors are 49%, 41%, and 23%, respectively. This has far-reaching effects, from clinical publications to invited speakerships.Although a study noted increasing trends in female authorship in high-impact neurology journals the current literature lacks evidence on a more informative benchmark—first and last authorship in randomized clinical trials (RCTs), which is typically considered for career advancement. This study assessed annual proportions and trends of female first …

Degenerative Cervical Myelopathy, Ratko Yurac, José Manuel Matamala, Juan José Zamorano, James S Harrop, Benjamin M Davies, Aria Nouri, Michael G Fehlings

Department of Neurology Faculty Papers

Degenerative cervical myelopathy (DCM) is the most common cause of spinal cord dysfunction in adults. Its prevalence is increasing as a result of population aging. The diagnosis of DCM is often delayed or overlooked, resulting in secondary neurologic morbidity. The natural course of DCM typically presents as a gradual neurological deterioration, with symptoms ranging from muscle weakness to complete paralysis, with variable degrees of sensory deficits and sphincter dysfunction. Magnetic resonance imaging (MRI) and electrophysiological studies allow the assessment of spinal cord function and its structural damage to determine treatment and clinical outcomes. All patients with signs and symptoms consistent …