Neurology Commons^™

Transplantation Of Astrocytic Mitochondria Modulates Neuronal Antioxidant Defense And Neuroplasticity And Promotes Functional Recovery After Intracerebral Hemorrhage, Ryosuke Tashiro, Jesus Bautista-Garrido, Dan Ozaki, Guanghua Sun, Lidiya Obertas, Alexis S Mobley, Gab Seok Kim, Jaroslaw Aronowski, Joo Eun Jung

Faculty, Staff and Student Publications

Astrocytes release functional mitochondria (Mt) that play regulatory and prosurvival functions on entering adjacent cells. We recently demonstrated that these released Mts could enter microglia to promote their reparative/prophagocytic phenotype that assists in hematoma cleanup and neurological recovery after intracerebral hemorrhage (ICH). However, the relevance of astrocytic Mt transfer into neurons in protecting brain after ICH is unclear. Here, we found that ICH causes a robust increase in superoxide generation and elevated oxidative damage that coincides with loss of the mitochondrial enzyme manganese superoxide dismutase (Mn-SOD). The damaging effect of ICH was reversed by intravenous transplantation of astrocytic Mt, which …

Fighting For Recovery On Multiple Fronts: The Past, Present, And Future Of Clinical Trials For Spinal Cord Injury, Valerie A Dietz, Nolan Roberts, Katelyn Knox, Sherilynne Moore, Michael Pitonak, Chris Barr, Jesus Centeno, Scott Leininger, Kent C New, Peter Nowell, Matthew Rodreick, Cedric G Geoffroy, Argyrios Stampas, Jennifer N Dulin

Faculty, Staff and Student Publications

Through many decades of preclinical research, great progress has been achieved in understanding the complex nature of spinal cord injury (SCI). Preclinical research efforts have guided and shaped clinical trials, which are growing in number by the year. Currently, 1,149 clinical trials focused on improving outcomes after SCI are registered in the U.S. National Library of Medicine at ClinicalTrials.gov. We conducted a systematic analysis of these SCI clinical trials, using publicly accessible data downloaded from ClinicalTrials.gov. After extracting all available data for these trials, we categorized each trial according to the types of interventions being tested and the types of …

Smart-Home Concept For Remote Monitoring Of Instrumental Activities Of Daily Living (Iadl) In Older Adults With Cognitive Impairment: A Proof Of Concept And Feasibility Study, Myeounggon Lee, Ram Kinker Mishra, Anmol Momin, Nesreen El-Refaei, Amir Behzad Bagheri, Michele K York, Mark E Kunik, Marc Derhammer, Borna Fatehi, James Lim, Rylee Cole, Gregory Barchard, Ashkan Vaziri, Bijan Najafi

Center on Aging Staff Publications

Assessment of instrumental activities of daily living (IADL) is essential for the diagnosis and staging of dementia. However, current IADL assessments are subjective and cannot be administered remotely. We proposed a smart-home design, called IADLSys, for remote monitoring of IADL. IADLSys consists of three major components: (1) wireless physical tags (pTAG) attached to objects of interest, (2) a pendant-sensor to monitor physical activities and detect interaction with pTAGs, and (3) an interactive tablet as a gateway to transfer data to a secured cloud. Four studies, including an exploratory clinical study with five older adults with clinically confirmed cognitive impairment, who …

Erdheim-Chester Disease With Isolated Cns Involvement: A Systematic Review Of The Literature, Anam Haque, Carlos A Pérez, Thejasvi A Reddy, Rajesh K Gupta

Faculty, Staff and Student Publications

Erdheim-Chester disease (ECD) is a rare, sporadic, non-Langerhans cell histiocytosis that can have various presentations and higher mortality in patients presenting with neurological symptoms. We performed a systematic review to investigate and chronicle the frequency of neurological manifestations, imaging findings, treatments, and outcomes in published ECD patients presenting with neurological symptoms. A PubMed literature search was conducted for articles (published between January 1980 and June 2021) on ECD cases presenting with neurological manifestations. We analyzed the data of 40 patients, including our patient. Cranial neuropathies and ataxia were the most frequent clinical manifestations. A total of 50% of the symptomatic …

The Tfeb-Tgif1 Axis Regulates Emt In Mouse Epicardial Cells, Elena Astanina, Gabriella Doronzo, Davide Corà, Francesco Neri, Salvatore Oliviero, Tullio Genova, Federico Mussano, Emanuele Middonti, Edoardo Vallariello, Chiara Cencioni, Donatella Valdembri, Guido Serini, Federica Limana, Eleonora Foglio, Andrea Ballabio, Federico Bussolino

Duncan NRI Faculty and Staff Publications

Epithelial-mesenchymal transition (EMT) is a complex and pivotal process involved in organogenesis and is related to several pathological processes, including cancer and fibrosis. During heart development, EMT mediates the conversion of epicardial cells into vascular smooth muscle cells and cardiac interstitial fibroblasts. Here, we show that the oncogenic transcription factor EB (TFEB) is a key regulator of EMT in epicardial cells and that its genetic overexpression in mouse epicardium is lethal due to heart defects linked to impaired EMT. TFEB specifically orchestrates the EMT-promoting function of transforming growth factor (TGF) β, and this effect results from activated transcription of thymine-guanine-interacting …

Mr Textural Features (Radiomics) For Predicting Response To Treatment In Patients With Intracranial Tuberculoma: A Retrospective Cross-Sectional Study, Muhammad Awais, Shahmeer Khan, Mohammad Wasay, Muhammad Azeemuddin, Ayesha Shoukat, Hafsa Khan

Pakistan Journal of Neurological Sciences (PJNS)

Background and objective: MR based radiomics can potentially response to treatment in intracranial tuberculoma, but very scarce literature is available in this regard. The purpose of this study was to determine whether MR based radiomic features can be used to predict response to antituberculosis (AT) treatment. Methods: Data of patients with intracranial tuberculomas who underwent MR imaging and AT treatment at our institution during the last 10 years was analyzed. In each case follow-up imaging performed at 6 months post initiation of treatment was reviewed to establish response to treatment. The textural analysis was performed by two consultant neuroradiologists, using …

Catatonia In The General Hospital: A Case Series Wading Through Diagnostic & Management Challenges, Shireen Najam, Marium Mansoor, Muhammad Yusuf Hafiz, Alviya Shafique, Ifrah Hambal, Banafsha Gul, Tania Nadeem

Pakistan Journal of Neurological Sciences (PJNS)

Catatonia is a cluster of affective, behavioral, and motor symptoms. Its causes are multifactorial ranging from severe and untreated psychiatric illnesses to neurological diseases and other general medical conditions. It is estimated that 20% of catatonia causes are due to medical conditions out of which two thirds are due to an underlying neurological condition which might include encephalitis, neural injury, developmental disorders, structural brain pathology, or seizures. Symptoms of catatonia can wax and wane, fluctuating between the retarded and the excited type within hours making it more difficult to identify and diagnose. If left untreated, catatonia can lead to multiple …

Pediatric Stroke: A Review, Tipu Sultan

Pakistan Journal of Neurological Sciences (PJNS)

Background and objectives: Pediatric Stroke is a neurological disorder in which the patient suffers with two or more Pediatric stroke is a focal neurological deficit lasting more than 24 hours because of stenosis, occlusion or rupture of cerebral blood vessels. Variable etiological factors are involved ranging from cardiac, haematological, infectious, immune mediated to arteriopathies which is emerging as most important cause of arterial ischemic stroke in children. In this review article we will discuss paediatric stroke with its epidemiology, etiological factors in particular arteriopathies, diagnostic modalities, management protocols and outcome.

Methods: We searched stroke in Pubmed and found 15315 articles, …

Clinical Spectrum, Risk Factors And Electrophysiologic Aspect Of Radial Nerve Injury, Arfah Kanwal, Safia Bano, Ubaid Ullah, Ahsan Numan

Pakistan Journal of Neurological Sciences (PJNS)

ABSTRACT

Background and objective: Radial nerve is injured due to a variety of reasons. The objective of this study was to determine the clinical spectrum, risk factors and electrophysiologic aspect of radial nerve injury presenting to a tertiary care hospital in Lahore.

Methods: This descriptive prospective cross-sectional study was conducted at department of Neurology, Mayo hospital Lahore from July 2022 to December 2022 and comprised patients with isolated radial nerve injury on the basis of history and clinical examination regardless of their gender, above 15 years of age. NCS/EMG was done on a Japanese machine Nihon Kohden by an expert …

Temporal Lobe Epilepsy With Hippocampus Sclerosis: Prevalence, Etiology, And Treatment Options With Herbal Medicines, Muhammad Wasim, Mehr Musani, Hasan Salman Siddiqi, Saara Muddasir, Bushra Amin, Fazal Manzoor Arain

Pakistan Journal of Neurological Sciences (PJNS)

Background and objectives: Epilepsy is a neurological disorder in which the patient suffers with two or more unprovoked seizures. It is one of the most common neurological disorders worldwide, affecting more than 70 million people. Currently various modes of effective treatments are available, but still there are many cases that remain drug resistant. Hence, there is a need to explore herbal medications for the treatment of drug resistant epilepsy.

Methods: Recent reviews and research articles (2000-2022) from PubMed and Google Scholar have been explored.

Review: Based on etiology, there are six categories of epilepsy: Genetic, Structural, Metabolic, Immune, Infectious, and …

Retraction Notice, Editorial Team Pjns

Pakistan Journal of Neurological Sciences (PJNS)

Retraction Notice

Khan MI, Khan JI, Ahmed SI, Ali S. The epidemiology of stroke in a developing country (Pakistan). Pak J Neurol Sci. 2018;13(3):30-44.

A reader brought to our attention that the article titled “The epidemiology of stroke in a developing country (Pakistan)”, published in Volume 13, Issue 3, of Pakistan Journal of Neurological Sciences (PJNS) was a redundant (duplicate) publication. We investigated this complaint and found out that prior to its submission to PJNS on February 11 2018, this article had already been published almost verbatim in Journal of Neurology & Stroke on January 23, 2018.

Tele-Stroke Care In Pakistan, Nurose Karim Md

Pakistan Journal of Neurological Sciences (PJNS)

No abstract provided.

Multiple Sclerosis In Pakistan: Collaborative Working To Improve Care, Sarah Razaq, Fahim Anwar

Pakistan Journal of Neurological Sciences (PJNS)

No abstract provided.

Hypodensities Within Hematoma Predict Outcome After Spontaneous Intracerebral Hemorrhage, Maryam Khalil, Sumaira Nabi, Amjad Mahmood Khan, Zeeshan Munawar, Samar Naik, Zaid Waqar, Malik Muhammad Adil, Mazhar Badshah

Pakistan Journal of Neurological Sciences (PJNS)

Background and objective: Radial nerve is injured due to a variety of reasons. The objective of this study was to determine the clinical spectrum, risk factors and electrophysiologic aspect of radial nerve injury presenting to a tertiary care hospital in Lahore.

Methods: This descriptive prospective cross-sectional study was conducted at department of Neurology, Mayo hospital Lahore from July 2022 to December 2022 and comprised patients with isolated radial nerve injury on the basis of history and clinical examination regardless of their gender, above 15 years of age. NCS/EMG was done on a Japanese machine Nihon Kohden by an expert as …

Evidence For An Association Between Coffin-Siris Syndrome And Congenital Diaphragmatic Hernia, Yoel Gofin, Xiaonan Zhao, Amanda Gerard, Fernando Scaglia, Michael F Wangler, Samantha A Schrier Vergano, Daryl A Scott

Duncan NRI Faculty and Staff Publications

Coffin-Siris syndrome (CSS) is an autosomal dominant neurodevelopmental syndrome that can present with a variety of structural birth defects. Pathogenic variants in 12 genes have been shown to cause CSS. Most of these genes encode proteins that are a part of the mammalian switch/sucrose non-fermentable (mSWI/SNF; BAF) complex. An association between genes that cause CSS and congenital diaphragmatic hernia (CDH) has been suggested based on case reports and the analysis of CSS and CDH cohorts. Here, we describe an unpublished individual with CSS and CDH, and we report additional clinical information on four published cases. Data from these individuals, and …

Kctd7 Deficiency Induces Myoclonic Seizures Associated With Purkinje Cell Death And Microvascular Defects, Justine H Liang, Jonathan Alevy, Viktor Akhanov, Ryan Seo, Cory A Massey, Danye Jiang, Joy Zhou, Roy V Sillitoe, Jeffrey L Noebels, Melanie A Samuel

Duncan NRI Faculty and Staff Publications

Mutations in the potassium channel tetramerization domain-containing 7 (KCTD7) gene are associated with a severe neurodegenerative phenotype characterized by childhood onset of progressive and intractable myoclonic seizures accompanied by developmental regression. KCTD7-driven disease is part of a large family of progressive myoclonic epilepsy syndromes displaying a broad spectrum of clinical severity. Animal models of KCTD7-related disease are lacking, and little is known regarding how KCTD7 protein defects lead to epilepsy and cognitive dysfunction. We characterized Kctd7 expression patterns in the mouse brain during development and show that it is selectively enriched in specific regions as the brain matures. We further …

‘Fly-Ing’ From Rare To Common Neurodegenerative Disease Mechanisms, Mengqi Ma, Matthew J Moulton, Shenzhao Lu, Hugo J Bellen

Duncan NRI Faculty and Staff Publications

Genome sequencing advances have enabled researchers and clinicians to probe vast numbers of human variants to distinguish pathogenic from benign variation. Model organisms have been critical in variant assessment and delineating molecular mechanisms of some of the diseases caused by these variants. The fruit fly, Drosophila melanogaster, has played a valuable role in this endeavor, taking advantage of its genetic technologies and established biological knowledge. In this review, we highlight the utility of the fly in studying the function of genes associated with rare neurological diseases that have led to a better understanding of common disease mechanisms. We emphasize …

Long-Term Effectiveness Of Ivig Maintenance Therapy In 36 Patients With Gad Antibody-Positive Stiff-Person Syndrome., Jessica Yi, Marinos Dalakas

Department of Neurology Faculty Papers

BACKGROUND AND OBJECTIVES: IVIg has been the preferred immunotherapy in stiff-person syndrome (SPS) based on a 3-month controlled trial, but whether it is also effective in inducing long-term benefits or arresting disease progression is unknown. The information is needed because SPS is a progressively disabling disease and IVIg is liberally used as chronic therapy without efficacy data. The present study explores the long-term effects of IVIg in the largest cohort of well-characterized patients with SPS followed by the same clinicians over 10 years.

METHODS: Data of 36 patients (32 glutamic acid decarboxylase [GAD] positive), diagnosed and treated with monthly maintenance …

Future Opportunities For Research In Rescue Treatments, James W. Wheless, Daniel Friedman, Gregory L. Krauss, Vikram R. Rao, Michael R Sperling, Enrique Carrazana, Adrian L. Rabinowicz

Department of Neurology Faculty Papers

Clinical studies of rescue medications for seizure clusters are limited and are designed to satisfy regulatory requirements, which may not fully consider the needs of the diverse patient population that experiences seizure clusters or utilize rescue medication. The purpose of this narrative review is to examine the factors that contribute to, or may influence the quality of, seizure cluster research with a goal of improving clinical practice. We address five areas of unmet needs and provide advice for how they could enhance future trials of seizure cluster treatments. The topics addressed in this article are: (1) unaddressed end points to …

Idh1 Pr132h Ctdna And D-2-Hydroxyglutarate As Csf Biomarkers In Patients With Idh-Mutant Gliomas, Yoko Fujita, Luis Nunez-Rubiano, Antonio Dono, Allison Bellman, Mauli Shah, Juan C Rodriguez, Vasanta Putluri, Abu Hena Mostafa Kamal, Nagireddy Putluri, Roy F Riascos, Jay-Jiguang Zhu, Yoshua Esquenazi, Leomar Y Ballester

Faculty, Staff and Student Publications

INTRODUCTION: We aimed to evaluate IDH1 p.R132H mutation and 2-hydroxyglutarate (2HG) in cerebrospinal fluid (CSF) as biomarkers for patients with IDH-mutant gliomas.

METHODS: CSF was collected from patients with infiltrating glioma, and 2HG levels were measured by liquid chromatography-mass spectrometry. IDH1 p.R132H mutant allele frequency (MAF) in CSF-ctDNA was measured by digital droplet PCR (ddPCR). Tumor volume was measured from standard-of-care magnetic resonance images.

RESULTS: The study included 48 patients, 6 with IDH-mutant and 42 with IDH-wildtype gliomas, and 57 samples, 9 from the patients with IDH-mutant and 48 from the patients with IDH-wildtype gliomas. ctDNA was detected in 7 …