Neurology Commons^™

Improved Urinary Continence For Stroke Survivors In Inpatient Rehab, Lauren Logan, Evelyn Laws, Charmika Schuster, Emily Sharawara, Steven Anderson, Shireen Hussien, Robin Nelson, Ann Sandstedt, Nadine Tranquilla, Natalie Swearingen, Diane Clark

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No abstract provided.

Cardiorespiratory Fitness Diminishes The Effects Of Age On White Matter Hyperintensity Volume, Nathan F. Johnson, Ahmed A. Bahrani, David K. Powell, Gregory A. Jicha, Brian T. Gold

Physical Therapy Faculty Publications

White matter hyperintensities (WMHs) are among the most commonly observed marker of cerebrovascular disease. Age is a key risk factor for WMH development. Cardiorespiratory fitness (CRF) is associated with increased vessel compliance, but it remains unknown if high CRF affects WMH volume. This study explored the effects of CRF on WMH volume in community-dwelling older adults. We further tested the possibility of an interaction between CRF and age on WMH volume. Participants were 76 adults between the ages of 59 and 77 (mean age = 65.36 years, SD = 3.92) who underwent a maximal graded exercise test and structural brain ...

Limbic-Predominant Age-Related Tdp-43 Encephalopathy Differs From Frontotemporal Lobar Degeneration, John L. Robinson, Sílvia Porta, Filip G. Garrett, Panpan Zhang, Sharon X. Xie, Eunran Suh, Vivianna M. Van Deerlin, Erin L. Abner, Gregory A. Jicha, Justin M. Barber, Virginia M-Y Lee, Edward B. Lee, John Q. Trojanowski, Peter T. Nelson

Epidemiology Faculty Publications

TAR-DNA binding protein-43 (TDP-43) proteinopathy is seen in multiple brain diseases. A standardized terminology was recommended recently for common age-related TDP-43 proteinopathy: limbic-predominant, age-related TDP-43 encephalopathy (LATE) and the underlying neuropathological changes, LATE-NC. LATE-NC may be co-morbid with Alzheimer’s disease neuropathological changes (ADNC). However, there currently are ill-defined diagnostic classification issues among LATE-NC, ADNC, and frontotemporal lobar degeneration with TDP-43 (FTLD-TDP). A practical challenge is that different autopsy cohorts are composed of disparate groups of research volunteers: hospital- and clinic-based cohorts are enriched for FTLD-TDP cases, whereas community-based cohorts have more LATE-NC cases. Neuropathological methods also differ across laboratories ...

Bilateral Basal Ganglia Hemorrhage In A Patient With Confirmed Covid-19, Rrita Daci, Megan Kennelly, Annie Ferris, Muhammad U. Azeem, Mark D. Johnson, Farid Hamzei-Sichani, Adalia H. Jun-O'Connell, Sabareesh K. Natarajan

COVID-19 Publications by UMMS Authors

Bilateral basal ganglia hemorrhage is exceedingly rare. To our knowledge, our patient is the first reported case of a confirmed coronavirus disease 2019 (COVID-19) patient who had bilateral basal ganglia hemorrhage. In the absence of other risk factors for bilateral deep cerebral involvement, we suspect that COVID-19 may be contributing to these rare pathologies. Most published data represent a correlation between COVID-19 and neurologic complications, and more research is still needed to prove causation.

Occupational Therapy’S Role In Addressing Sex And Intimacy For Individuals With Progressive Neuromuscular Disorders, Lindsay N. Richards, Becki Cohill, Katrhyn Ellis, Susan Macdermott

San Marcos, Summer 2020

Individuals with progressive neuromuscular disorders (PND); specifically, Parkinson’s disease (PD), Multiple Sclerosis (MS), Huntington’s Disease (HD), and Amyotrophic Lateral Sclerosis (ALS) often face physical, psychological, and social challenges related to sex and intimacy. Occupational therapy (OT) practitioners are experts in activity analysis and are equipped with unique knowledge of performance skills and client factors to address deficits in occupational performance.

Though there is literature presenting the effects of PND on sexual occupations, a gap exists as it relates to qualitative data from the perspective of the individual and their partners. A mixed-methods survey was conducted examining the lived ...

Optimal Interventions To Address Drop Foot And Increase Gait Speed In Stroke Populations, Christopher Tran, Tommy Ngo, Dana Hazlett, Ethan Jung, Faris Alshammari

San Marcos, Summer 2020

Background: The mechanism of stroke or cerebral vascular accident (CVA) is an interruption of blood flow to the brain, which can result in many different neuromuscular impairments including drop foot. There is limited research focusing on comparative interventions for gait improvement in early stroke.

Purpose: The purpose of this study was to review the various physical thereapy interventions to benefit patients with drop foot following a single stroke.

Methods: A comprehensive systematic search was conducted within the PubMed and ProQuest databases. This study examined papers assessing conventional physical therapy for stroke patients with drop foot who had their 1st stroke ...

Optimization And Validation Of A Modified Radial-Arm Water Maze Protocol Using A Murine Model Of Mild Closed Head Traumatic Brain Injury, Teresa Macheda, Kelly N. Roberts, Josh M. Morganti, David J. Braun, Adam D. Bachstetter

Spinal Cord and Brain Injury Research Center Faculty Publications

Cognitive impairments can be a significant problem after a traumatic brain injury (TBI), which affects millions worldwide each year. There is a need for establish reproducible cognitive assays in rodents to better understand disease mechanisms and to develop therapeutic interventions towards treating TBI-induced impairments. Our goal was to validate and standardize the radial arm water maze (RAWM) test as an assay to screen for cognitive impairments caused by TBI. RAWM is a visuo-spatial learning test, originally designed for use with rats, and later adapted for mice. The present study investigates whether test procedures, such us the presence of extra-maze cues ...

Occupational Therapy's Role In Addressing Sex And Intimacy For Individuals With Progressive Neuromuscular Disorders, Lindsay N. Richards, Becki Cohill, Kathryn Ellis, Susan Macdermott

Virtual OTD Capstone Symposium, Summer 2020

Individuals with progressive neuromuscular disorders (PND); specifically, Parkinson’s disease (PD), Multiple Sclerosis (MS), Huntington’s Disease (HD), and Amyotrophic Lateral Sclerosis (ALS) often face physical, psychological, and social challenges related to sex and intimacy. Occupational therapy (OT) practitioners are experts in activity analysis and are equipped with unique knowledge of performance skills and client factors to address deficits in occupational performance. Though there is literature presenting the effects of PND on sexual occupations, a gap exists as it relates to qualitative data from the perspective of the individual and their partners.

A mixed-methods survey was conducted examining the lived ...

Arteriovenous Malformation With Associated Multiple Flow-Related Distal Anterior Cerebral Artery Aneurysms: A Case Report With Poor Outcomes, Ummey Hani, Muhammad Ehsan Bari, Syed Sarmad Bukhari

Section of Neurosurgery

Background: Low-grade arteriovenous malformations (AVMs) associated with multiple flow-related distal anterior cerebral artery (DACA) aneurysms are rare occurrences. Here, we present a case of a frontal AVM with three associated DACA aneurysms arising from a single feeder.
Case description: A 36-year-old male presented to us in the ER with acute-onset dysphasia and altered mental status. Head computed tomography and angiogram showed a spontaneous intracerebral hemorrhage with intraventricular extension and revealed a Spetzler Martin Grade II AVM, being fed by two feeders, with the major feeder from the DACA bearing three flow-related aneurysms. As the patient awaited digital subtraction angiography, his ...

Upregulating Beta-Hexosaminidase Activity In Rodents Prevents Alpha-Synuclein Lipid Associations And Protects Dopaminergic Neurons From Alpha-Synuclein-Mediated Neurotoxicity, Oeystein R. Brekk, Joanna A. Korecka, Cecile C. Crapart, Mylene Huebecker, Zachary K. Macbain, Sara Ann Rosenthal, Miguel Sena-Esteves, David A. Priestman, Frances M. Platt, Ole Isacson, Penelope J. Hallett

Open Access Articles

Sandhoff disease (SD) is a lysosomal storage disease, caused by loss of beta-hexosaminidase (HEX) activity resulting in the accumulation of ganglioside GM2. There are shared features between SD and Parkinson's disease (PD). alpha-synuclein (aSYN) inclusions, the diagnostic hallmark sign of PD, are frequently found in the brain in SD patients and HEX knockout mice, and HEX activity is reduced in the substantia nigra in PD. In this study, we biochemically demonstrate that HEX deficiency in mice causes formation of high-molecular weight (HMW) aSYN and ubiquitin in the brain. As expected from HEX enzymatic function requirements, overexpression in vivo of ...

Seventy Million Voices, Makenzie Cochran

The Idea of an Essay

No abstract provided.

Altered Micos Morphology And Mitochondrial Ion Homeostasis Contribute To Poly(Gr) Toxicity Associated With C9-Als/Ftd, Shuangxi Li, Zhihao Wu, Yu Li, Ishaq Tantray, Diego De Stefani, Andrea Mattarei, Gopinath Krishnan, Fen-Biao Gao, Hannes Vogel, Bingwei Lu

Open Access Articles

Amyotrophic lateral sclerosis (ALS) manifests pathological changes in motor neurons and various other cell types. Compared to motor neurons, the contribution of the other cell types to the ALS phenotypes is understudied. G4C2 repeat expansion in C9ORF72 is the most common genetic cause of ALS along with frontotemporal dementia (C9-ALS/FTD), with increasing evidence supporting repeat-encoded poly(GR) in disease pathogenesis. Here, we show in Drosophila muscle that poly(GR) enters mitochondria and interacts with components of the Mitochondrial Contact Site and Cristae Organizing System (MICOS), altering MICOS dynamics and intra-subunit interactions. This impairs mitochondrial inner membrane structure, ion homeostasis ...

The Role Of Temperature Management In Neurologic Outcomes Of Adult Cardiac Arrests:, Trenton Christensen

Theses and Graduate Projects

Background: Targeted Temperature control for post cardiac arrest patients has a long history dating back to the ancient Greeks. In the last twenty years there has been a push to define and implement a protocol for targeted temperature control for post cardiac arrest patients, specifically those with ventricular fibrillation arrests, to improve neurological outcomes and post-arrest quality of life. In this review, literature from the last twenty years and beyond was examined to attempt to determine whether populations treated with therapeutic hypothermia experienced improved neurological results.

Methods: Literature searches were preformed using the PubMed database as well as Google Scholar ...

Loss Of Supervillin Causes Myopathy With Myofibrillar Disorganization And Autophagic Vacuoles, Carola Hedberg-Oldfors, Elizabeth J. Luna, Anders Oldfors, Cordula Knopp

Open Access Articles

The muscle specific isoform of the supervillin protein (SV2), encoded by the SVIL gene, is a large sarcolemmal myosin II- and F-actin-binding protein. Supervillin (SV2) binds and co-localizes with costameric dystrophin and binds nebulin, potentially attaching the sarcolemma to myofibrillar Z-lines. Despite its important role in muscle cell physiology suggested by various in vitro studies, there are so far no reports of any human disease caused by SVIL mutations. We here report four patients from two unrelated, consanguineous families with a childhood/adolescence onset of a myopathy associated with homozygous loss-of-function mutations in SVIL. Wide neck, anteverted shoulders and prominent ...

Brainstem Ischemic Syndrome In Juvenile Nf2., John W Henson, Tara Benkers, Connor Mccormick

Articles, Abstracts, and Reports

Objective: A new case of brainstem ischemic necrosis in a young woman with de novo neurofibromatosis type 2 (NF2) is reported, and given notable similarities to 7 prior cases of brainstem stroke in the literature, features defining a possible syndrome were sought.

Methods: Case review including detailed clinical assessment, neuroimaging analysis, genetic testing, and brain biopsy, followed by a multicase analysis.

Results: Brainstem ischemia in juvenile NF2 typically occurs in teenagers without previously known NF2 as an acute, monophasic presentation with restricted diffusion in the midbrain or pons following a recent hypoperfusion event, normal vascular imaging, obvious intracranial imaging features ...

De Novo Variants Of Nr4a2 Are Associated With Neurodevelopmental Disorder And Epilepsy., Sakshi Singh, Aditi Gupta, Michael Zech, Ashley N. Sigafoos, Karl J. Clark, Yasemin Dincer, Matias Wagner, Jennifer B. Humberson, Sarah Green, Koen Van Gassen, Tracy Brandt, Rhonda E. Schnur, Francisca Millan, Yue Si, Volker Mall, Juliane Winkelmann, Ralitza H. Gavrilova, Eric W. Klee, Kendra Engleman, Nicole P. Safina, Rachel Slaugh, Emily M. Bryant, Wen-Hann Tan, Jorge Granadillo, Sunita N. Misra, G Bradley Schaefer, Shelley Towner, Eva H. Brilstra, Bobby P C Koeleman

Manuscripts, Articles, Book Chapters and Other Papers

PURPOSE: This study characterizes the clinical and genetic features of nine unrelated patients with de novo variants in the NR4A2 gene.

METHODS: Variants were identified and de novo origins were confirmed through trio exome sequencing in all but one patient. Targeted RNA sequencing was performed for one variant to confirm its splicing effect. Independent discoveries were shared through GeneMatcher.

RESULTS: Missense and loss-of-function variants in NR4A2 were identified in patients from eight unrelated families. One patient carried a larger deletion including adjacent genes. The cases presented with developmental delay, hypotonia (six cases), and epilepsy (six cases). De novo status was ...

Reccurent Reversible Encephalopathy With Ataxia And D-Lactic Acidosis In Short Bowel Syndrome, Abdul Rana, Salman Assad, Sucharita Katikala, Shuja Asad Malik, Mahmoud Abouzid, Mehar Zahid, Swaroopa Pulivarthi

Marshall Journal of Medicine

The short gut syndrome can lead to multiple metabolic disorders along with chronic malnutrition. Such patients can develop changes in mental status due to metabolic alterations. We present a case of eleven years old male who presented to the hospital with an altered mental state. There were repeated admissions to the hospital with a similar complain with non-conclusive cerebrospinal fluid analysis and normal neuroimaging findings. The patient suffered from chronic malnutrition and multiple hospitalizations with altered mental status, encephalopathy. However, he responded well to bicarbonate therapy and prophylactic metronidazole treatment.

Meta-Analysis Of The Alzheimer's Disease Human Brain Transcriptome And Functional Dissection In Mouse Models., Ying-Wooi Wan, Rami Al-Ouran, Carl G Mangleburg, Thanneer M Perumal, Tom V Lee, Katherine Allison, Vivek Swarup, Cory C Funk, Chris Gaiteri, Mariet Allen, Minghui Wang, Sarah M Neuner, Catherine C Kaczorowski, Vivek M Philip, Gareth R Howell, Heidi Martini-Stoica, Hui Zheng, Hongkang Mei, Xiaoyan Zhong, Jungwoo Wren Kim, Valina L Dawson, Ted M Dawson, Ping-Chieh Pao, Li-Huei Tsai, Jean-Vianney Haure-Mirande, Michelle E Ehrlich, Paramita Chakrabarty, Yona Levites, Xue Wang, Eric B Dammer, Gyan Srivastava, Sumit Mukherjee, Solveig K Sieberts, Larsson Omberg, Kristen D Dang, James A Eddy, Phil Snyder, Yooree Chae, Sandeep Amberkar, Wenbin Wei, Winston Hide, Christoph Preuss, Ayla Ergun, Phillip J Ebert, David C Airey, Sara Mostafavi, Lei Yu, Hans-Ulrich Klein, Accelerating Medicines Partnership, Alzheimer’S Disease Consortium, Gregory W Carter, David A Collier, Todd E Golde, Allan I Levey, David A Bennett, Karol Estrada, T Matthew Townsend, Bin Zhang, Eric Schadt, Philip L De Jager, Nathan D Price, Nilüfer Ertekin-Taner, Zhandong Liu, Joshua M Shulman, Lara M Mangravite, Benjamin A Logsdon

Articles, Abstracts, and Reports

We present a consensus atlas of the human brain transcriptome in Alzheimer's disease (AD), based on meta-analysis of differential gene expression in 2,114 postmortem samples. We discover 30 brain coexpression modules from seven regions as the major source of AD transcriptional perturbations. We next examine overlap with 251 brain differentially expressed gene sets from mouse models of AD and other neurodegenerative disorders. Human-mouse overlaps highlight responses to amyloid versus tau pathology and reveal age- and sex-dependent expression signatures for disease progression. Human coexpression modules enriched for neuronal and/or microglial genes broadly overlap with mouse models of AD ...

In Vivo Evidence Of Exosome-Mediated Aβ Neurotoxicity, Ahmed Elsherbini, Haiyan Qin, Zhihui Zhu, Priyanka Tripathi, Simone M. Crivelli, Erhard Bieberich

Physiology Faculty Publications

No abstract provided.

A Comparative Study Of Sleep And Diurnal Patterns In House Mouse (Mus Musculus) And Spiny Mouse (Acomys Cahirinus), Chanung Wang, Lauren E. Guerriero, Dillon M. Huffman, Asma'a A. Ajwad, Trae C. Brooks, Sridhar Sunderam, Ashley W. Seifert, Bruce F. O'Hara

Biomedical Engineering Faculty Publications

Most published sleep studies use three species: human, house mouse, or Norway rat. The degree to which data from these species captures variability in mammalian sleep remains unclear. To gain insight into mammalian sleep diversity, we examined sleep architecture in the spiny basal murid rodent Acomys cahirinus. First, we used a piezoelectric system validated for Mus musculus to monitor sleep in both species. We also included wild M. musculus to control for alterations generated by laboratory-reared conditions for M. musculus. Using this comparative framework, we found that A. cahirinus, lab M. musculus, and wild M. musculus were primarily nocturnal, but ...