Neurology Commons^™

Sleep Drive, Not Total Sleep Amount, Increases Seizure Risk, Vishnu Anand Cuddapah, Cynthia T Hsu, Fernanda Valle Sirias, Yongjun Li, Hrishit M Shah, Christopher Saul, Samantha Killiany, Camilo Guevara, Joy Shon, Zhifeng Yue, Gabrielle L Gionet, Mary E Putt, Amita Sehgal

Duncan NRI Faculty and Staff Publications

Sleep loss has been associated with increased seizure risk since antiquity. Using automated video detection of spontaneous seizures in Drosophila epilepsy models, we show that seizures worsen only when sleep restriction raises homeostatic "sleep drive," not simply when total sleep amount falls. This is supported by the paradoxical finding that acute activation of sleep-promoting circuits worsens seizures, because it increases sleep drive without changing sleep amount. Sleep-promoting circuits become hyperactive after sleep loss and are associated with increased whole-brain activity. During sleep restriction, optogenetic inhibition of sleep-promoting circuits to reduce sleep drive protects against seizures. Downregulation of the 5HT1A serotonin …

"Star Sign" Of Subarachnoid Hemorrhage, Shivani Ruf

Florida Journal of Emergency Medicine (FJEM)

A 60-year-old female who was brought to the emergency department after a syncopal episode. She was found to have a subarachnoid hemorrhage (SAH) from a ruptured anterior communicating artery aneurysm. Her CT showed the classic "star sign" of SAH.

The Sodium-Glutamate Antagonist Riluzole Improves Outcome After Acute Spinal Cord Injury: Results From The Riscis Randomised Controlled Trial Analysed Using A Global Statistical Analytic Technique, Michael G. Fehlings, Karlo M. Pedro, Mohammed Ali Alvi, Ali Moghaddamjou, James S. Harrop, Ralph Stanford, Jonathon Ball, Bizhan Aarabi, Paul M. Arnold, James D. Guest, Shekar N. Kurpad, James M. Schuster, Ahmad N. Nassr, Karl M. Schmitt, Jefferson R. Wilson, Darrel S. Brodke, Faiz U. Ahmad, Albert Yee, Wilson Z. Ray, Nathaniel P. Brooks, Jason Wilson, Diana S-L Chow, Elizabeth G. Toups, Kevin E. Thorpe, Jiaxin Huang, Peng Huang

Department of Neurosurgery Faculty Papers

BACKGROUND: Spinal cord injury (SCI) clinical trials typically rely on a single primary endpoint to assess drug efficacy. This strategy fails to adequately capture the full impact of treatment in heterogenous neurological conditions like SCI. A more patient-centric analysis requires assessment of neurological function, functional capacity, and quality of life, incorporating meaningful patient-reported outcomes. The global statistical test (GST) addresses this challenge using a unified statistical conclusion regarding the superiority of a treatment strategy over another by evaluating multiple trial endpoints simultaneously.

METHODS: The RISCIS trial (Safety and Efficacy of Riluzole in Acute Spinal Cord Injury Study) data was analysed …

Brivaracetam Effectiveness And Patient-Reported Outcomes In Clinical Practice: Data From A 12-Month Prospective, Observational Study In The United States., Hina Dave, Michael R. Sperling, Hamada Hamid Altalib, Heidi Henninger, Roger J. Porter, Michael Gelfand, Prashant Dongre, Sami Elmoufti, Melinda S. Martin, Anne-Liv Schulz, Jacqueline A. French

Department of Neurology Faculty Papers

OBJECTIVE: Evaluate real-world effectiveness, patient-reported outcomes (PROs), and safety/tolerability of brivaracetam in patients (≥16 years) with focal-onset seizures currently receiving ≥ 1 antiseizure medication (ASM), and with historical or current use of levetiracetam, lamotrigine, oxcarbazepine, and/or carbamazepine.

METHODS: EP0088 was a 12-month, prospective, observational study of brivaracetam in a clinical practice setting in the US. Primary study outcome was brivaracetam retention at 12 months after brivaracetam initiation. Effect of brivaracetam on patients' perceptions of their health was assessed using Patient-Reported Outcomes Measurement Information System (PROMIS) short forms and Seizure-Related Disability Assessment Scale (SERDAS). Safety outcomes included incidence of treatment-emergent adverse …

Distinguishing Pex2 And Pex16 Gene Variant Severity For Mild, Severe And Atypical Peroxisome Biogenesis Disorders, Vanessa A Gomez, Oguz Kanca, Sharayu V Jangam, Saurabh Srivastav, Jonathan C Andrews, Michael F Wangler

Duncan NRI Faculty and Staff Publications

Peroxisomal biogenesis disorders (PBD) are autosomal recessive diseases caused by mutations in specific PEX genes that impair peroxisome formation, leading to multi-systemic failure. Symptoms vary, even in patients with variants in the same PEX gene. Our goal is to select PEX mutations and use Drosophila to model a severity spectrum based on genotype-phenotype correlations. Utilizing KozakGAL4 (KZ) cassettes, we replaced the coding sequence of Pex with a GAL4 driver, ideal for making 'humanized' flies in which human PEX can replace the fly loss. We generated Pex2KZ and Pex16KZ lines and assessed them in various behavior assays, confirming their severe phenotypes. …

C-Terminal Frameshift Variants In Gpkow Are Associated With A Multisystemic X-Linked Disorder, Jung-Wan Mok, Laura Mackay, Maria Blazo, Elizabeth Mizerik, Jozef Gecz, Renee Carroll, Mathilde Nizon, Sophie Rondeau, Madeleine Joubert, Silvestre Cuinat, Wallid Deb, Fernanda Valle Sirias, Monika Weisz-Hubshman, Shamika Ketkar, Urszula Polak, Alyssa A Tran, Debra Kearney, Neil A Hanchard, Oguz Kanca, Michael F Wangler, Hugo J Bellen, Brendan H Lee, Shinya Yamamoto, Keren Machol

Duncan NRI Faculty and Staff Publications

Purpose: GPKOW, a gene on the X-chromosome, encodes a nuclear RNA-binding protein important in messenger RNA (mRNA) processing as a spliceosome subunit. This work aims to establish GPKOW as a disease-associated gene.

Methods: We describe 3 males from 2 unrelated families with hemizygous frameshift variants affecting the last exon of GPKOW p.(Arg441SerfsTer30) and p.(Ser444GlufsTer28). The effect of p.(Ser444GlufsTer28) on gene expression was evaluated in patient's fibroblasts. In vivo studies in Drosophila melanogaster targeting the sole GPKOW fly ortholog, CG10324 (Gpkow) were performed.

Results: Clinical presentations included intrauterine growth restriction, microcephaly/microencephaly, and eye, brain, skin, and skeletal abnormalities. Heterozygote females presented …

Individualized Functional And Structural Language Lateralities In Temporal Lobe Epilepsy And Their Impact On Memory, Ankeeta Ankeeta, Qirui Zhang, Sam Sharifzadeh Javidi, Shilpi Modi, Michael R. Sperling, Joseph I. Tracy

Department of Neurology Faculty Papers

The basis and impact of functional asymmetries in the brain, particularly language lateralization, are not fully understood, and the relationship between functional and structural asymmetries remains largely untested. This study investigated the degree to which asymmetries in hemispheric language laterality are concordant with asymmetries in gray matter (GM) structure and whether the hemispheric organization of memory is influenced by functional language asymmetries. Structural and functional MR data was acquired from 261 individuals, including those with unilateral temporal lobe epilepsy (LTLE = 96, RTLE = 69) and matched with healthy participants (HPs = 96). Functional language laterality indices (LIs) were calculated …

Multiple Subcortical And Subcortico-Cortico Dynamic Network Reconfigurations Characterize Focal-To-Bilateral Tonic-Clonic Seizures, Shilpi Modi, A. Ankeeta, Walter Hinds, Michael R. Sperling, Xiaosong He, Joseph I. Tracy

Department of Neurology Faculty Papers

Temporal lobe epilepsy (TLE) is the most common focal epilepsy, with focal to bilateral tonic-clonic seizures (FBTCS+) a more severe form of the disorder. Evidence has underscored the critical role of the thalamus, mesial temporal region, basal ganglia and cerebellum, along with the cortex, in the propagation, termination, and modulation of seizure activity. We examined time variant patterns of interaction within and between 7 cortical and 4 subcortical systems in 55 healthy controls and 56 patients with TLE (n = 40 with FBTCS+ and 15 without), isolating those patterns most distinctive of FBTCS+ utilizing tools from dynamic network neuroscience on …

Exploring The Clinical Utility Of Neurofilament Light Chain Assays In Multiple Sclerosis Management., Amit Bar-Or, Jacqueline Nicholas, Jenny Feng, Francesca Sorrell, Mark Cascione

Neuroscience Articles

Multiple sclerosis (MS) is a chronic neuroinflammatory and neurodegenerative disease that affects nearly 1 million adults in the United States. Owing to its unpredictable disease course, diverse phenotypes, and an array of currently available disease-modifying therapies, a personalized approach to MS management is required. There is an unmet need to identify, validate, and incorporate prognostic, monitoring, and predictive biomarkers into routine clinical practice for MS. A mounting body of evidence supports the use of blood biomarkers, such as neurofilament light chain (NfL), in predicting disease activity and monitoring treatment response. Previous hurdles for the widespread use of NfL in the …

The Landscape Of Malignant Transition: Unraveling Cancer Cell-Of-Origin And Heterogeneous Tissue Microenvironment, Ruihan Luo, Jiajia Liu, Tiangang Wang, Weiling Zhao, Yanfei Wang, Jianguo Wen, Hongyu Wang, Shanli Ding, Xiaobo Zhou

Faculty, Staff and Student Publications

Understanding disease progression and sophisticated tumor ecosystems is imperative for investigating tumorigenesis mechanisms and developing novel prevention strategies. Here, we dissected heterogeneous microenvironments during malignant transitions by leveraging data from 1396 samples spanning 13 major tissues. Within transitional stem-like subpopulations highly enriched in precancers and cancers, we identified 30 recurring cellular states strongly linked to malignancy, including hypoxia and epithelial senescence, revealing a high degree of plasticity in epithelial stem cells. By characterizing dynamics in stem-cell crosstalk with the microenvironment along the pseudotime axis, we found differential roles of ANXA1 at different stages of tumor development. In precancerous stages, reduced …

The Commonly Uncommon Presentation Of Cerebral Venous Thrombosis: A Case Report, Elizabeth Piwowarski, Kalyan Mantha, Martin Wegman

HCA Healthcare Journal of Medicine

Introduction

Cerebral venous thrombosis (CVT) is notoriously misdiagnosed as more benign etiologies during the initial examination owing to its relative rarity, its wide variety of presenting symptoms and onset and progression patterns, and its frequent requirement for less commonly utilized imaging techniques in its diagnosis. Accordingly, most cases are identified only after repeated evaluations for symptom persistence or progression, or in cases involving prothrombotic states linked to the disease, such as pregnancy, puerperium, genetic or acquired thrombophilia, and infection.

Case Presentation

We present the case of a 29-year-old woman with a history of obesity and oral contraceptive use who was …

Unraveling The Threads: A Case Report On Confusional Migraine And The Intricate Dance Between Psychiatry And Neurology, Mabit C. Gonzalez, Manjula Kottapalli

HCA Healthcare Journal of Medicine

Background

Migraine affects about 1 billion people worldwide and is associated with a significant negative impact on personal and occupational functioning. Migraine accompanied by aura is seen in about 15% of migraineurs. Visual aura is the most common type of aura. Much less common though are auras that involve higher mental function, such as confusional state. The confusional state may manifest with a wide variety of cortical dysfunction, such as speech impairment, increased alertness, agitation, and amnesia, often lasting longer than a typical migraine aura.

Case Presentation

The authors present the unique case of a 29-year-old patient with episodic and …

Unique Presentation Of Vertebral Artery Dissection: A Case Report, Rossen I. Kirkov, Daniel Fisher

HCA Healthcare Journal of Medicine

Background

Vertebral artery dissection (VAD) is a common cause of stroke within the younger patient population. It is usually associated with headache or neck pain, as well as signs and symptoms of a posterior circulation stroke, such as vertigo, dysarthria, and ataxia. However, there are very scarce reports of patients with this pathology presenting with focal neurologic deficits, which are more indicative of a cerebral stroke.

Case Presentation

This case involves a 46-year-old woman who presented to the emergency department (ED) with complaints of right-sided headache and neck pain, which had been ongoing for 1 week, with newly developed right …

The Benefits Of Infrared Therapy, Mirror Exercise, And Faradic Current In A Patient With Bell’S Palsy: Case Study, Dhyan Rachmawati, Sugiono -, Fendy Nugroho, Noerdjanah -

Jurnal Fisioterapi Terapan Indonesia

Background: Bell’s Palsy is defined as paralysis of one side of the facial nerve, with an unknown cause. Several other conditions can also cause facial paralysis, such as brain tumors, stroke, myasthenia gravis, and Lyme disease. However, if no specific cause can be identified, this condition is known as Bell’s Palsy, which is caused by swelling and pressure on the nerve at the stylomastoid foramen, leading to nerve compression or damage. Often, the affected side’s eye cannot be closed. Physiotherapy management plays a vital role in the rehabilitation process for Bell’s Palsy patients to reduce symptoms, accelerate recovery, and …

The Effectiveness Of The Addition Of Slow Deep Breathing To Brain Gym Exercise On Cognitive Impairment Of The Elderly, Dhia Maharani Ms, Mohammad Ali Mr, Zahra Sativani Mrs

Jurnal Fisioterapi Terapan Indonesia

Background: According to WHO, 65.5 million elderly people worldwide have impaired cognitive function. Cognitive impairment can be caused by impaired oxygen supply to the brain, stress, and lack of physical activity. Physiotherapy has a role in elderly cognition through interventions to improve cognition, namely in the form of Brain Gym Exercise with the addition of Slow Deep Breathing. Objective: Knowing the effectiveness of the addition of Slow Deep Breathing to Brain Gym Exercise on cognitive impairment of the elderly at Panti Sosial Tresna Werdha Budi Mulia 4. Methods: This study used quasi experimental with two group pre-post …

Efektivitas Massage Endorphin Untuk Mengurangi Kecemasan Pada Ibu Hamil Menjelang Persalinan, Widiya Saryani, Dini Nur Alpiah

Jurnal Fisioterapi Terapan Indonesia

Pregnancy is a biological process involving complex physiological and psychological transitions that demand high adaptability from women, especially approaching childbirth. Anxiety during the third trimester is frequently reported and is associated with increased cortisol secretion, which may negatively impact labor effectiveness. This literature review aimed to synthesize scientific evidence regarding the effectiveness of endorphin massage in reducing anxiety among pregnant women in the third trimester. The review used a systematic approach based on the PICO framework, covering studies published between 2021 and 2025. Databases such as PubMed, Google Scholar, and SINTA were used to identify quasi-experimental studies comparing endorphin massage …

Peningkatan Keterampilan Makan Pada Anak Down Syndrome Melalui Terapi Okupasi Berbasis Sensory Integration: Studi Kasus, Reza Nur Arsyi, Tambunan Seselia Thresagloria, Muhammad Luthfi, Ayleen Alicia K, Hermito Gideon

Jurnal Fisioterapi Terapan Indonesia

Children with Down Syndrome (DS) frequently experience feeding difficulties due to hypotonia, sensory processing disorder, and oromotor impairments. This case study aimed to describe the clinical reasoning and effectiveness of a sensory integration (SI)-based occupational therapy intervention in improving feeding skills in a 10-year-old child with DS. The intervention consisted of 12 structured sessions focusing on postural stability, proprioceptive awareness, fine motor control, and oromotor coordination. Evaluation tools included Sensory Profile 2 and the Functional Independence Measure (FIM). Post-intervention outcomes indicated significant improvement in spoon use, posture during mealtime, texture tolerance, and self-feeding independence. FIM scores improved from total assistance …

Efektivitas Latihan Aerobik Dalam Mengurangi Gejala Depresi: Literature Review, Putra Adytio Giriyoga, Dini Nur Alpiah

Jurnal Fisioterapi Terapan Indonesia

Depression is one of the most common mental health disorders worldwide and can significantly affect an individual's quality of life. Various treatment approaches have been implemented, with one of the most noteworthy being non-pharmacological interventions in the form of aerobic exercise. This study aims to review the effectiveness of aerobic exercise in reducing depressive symptoms. This research is a narrative literature review, in which 3,610 articles were initially identified and then filtered based on inclusion-exclusion criteria, resulting in 8 articles. After eliminating duplicates, further screening was conducted through critical appraisal. The final selection of 8 articles was reviewed. The findings …

Idiopathic Transverse Myelitis: A Case Report, Danielle Whitacre

Lynchburg Journal of Medical Science

The objective of this paper is to review a case report for a patient with idiopathic transverse myelitis. This rare disease can easily be forgotten based on the vagueness of symptoms and as the presentation can vary drastically. In this case, a magnetic resonance imaging (MRI) test was ordered after a patient presented with a sensory deficit from the level of his chest to his toes that showed a 1.5 centimeter (cm) intramedullary spinal cord lesion at the level of T1. From the imaging, the differential diagnosis included transverse myelitis, a demyelinating lesion, and primary neoplasms such as ependymoma and …

Stress And Seizures: The October 7th Experience, Alon Doron, Firas Fahoum, Lilach Goldstein

Department of Neurology Faculty Papers

OBJECTIVE: Stress is a frequently self-reported seizure trigger in patients with epilepsy (PWE), with studies regarding this issue having conflicting results. On October 7th, 2023, a large-scale military invasion accompanied by massive rocket launches against Israel, including Tel Aviv, occurred, providing an opportunity to investigate the role of acute stress in provoking seizures.

METHODS: All adults who presented to the emergency department (ED) of Tel Aviv Sourasky Medical Center between January 1st, 2017, and February 29th, 2024, and were diagnosed with seizures were included. Data were collected using MDClone, a data acquisition tool. The overall seizure-related ED admissions were compared …