Hemodynamics of Prefrontal Cortex in Ornithine Transcarbamylase Deficiency: A Twin Case Study.

Abstract:

:Ornithine transcarbamylase deficiency (OTCD) is the most common form of urea cycle disorder characterized by the presence of hyperammonemia (HA). In patients with OTCD, HA is known to cause impairments in domains of executive function and working memory. Monitoring OTCD progression and investigating neurocognitive biomarkers can, therefore, become critical in understanding the underlying brain function in a population with OTCD. We used functional near infrared spectroscopy (fNIRS) to examine the hemodynamics of prefrontal cortex (PFC) in a fraternal twin with and without OTCD. fNIRS is a non-invasive and wearable optical technology that can be used to assess cortical hemodynamics in a realistic clinical setting. We quantified the hemodynamic variations in total-hemoglobin as assessed by fNIRS while subjects performed the N-back working memory (WM) task. Our preliminary results showed that the sibling with OTCD had higher variation in a very low frequency band (<0.03 Hz, related to mechanism of cerebral autoregulation) compared to the control sibling. The difference between these variations was not as prominent in the higher frequency band, indicating the possible role of impaired autoregulation and cognitive function due to presence of HA. We further examined the functional connectivity in PFC, where the OTCD sibling showed lower interhemispheric functional connectivity as the task load increased. Our pilot results are the first to show the utility of fNIRS in monitoring OTCD cortical hemodynamics, indicating the possibility of inefficient neurocognitive function. This study provides a novel insight into the monitoring of OTCD focusing on the contribution of physiological process and neurocognitive function in this population.

journal_name

Front Neurol

journal_title

Frontiers in neurology

authors

Anderson AA,Gropman A,Le Mons C,Stratakis CA,Gandjbakhche AH

doi

10.3389/fneur.2020.00809

subject

Has Abstract

pub_date

2020-08-14 00:00:00

pages

809

issn

1664-2295

journal_volume

11

pub_type

杂志文章
  • Cortical-subcortical interactions in hypersomnia disorders: mechanisms underlying cognitive and behavioral aspects of the sleep-wake cycle.

    abstract::Subcortical circuits mediating sleep-wake functions have been well characterized in animal models, and corroborated by more recent human studies. Disruptions in these circuits have been identified in hypersomnia disorders (HDs) such as narcolepsy and Kleine-Levin Syndrome, as well as in neurodegenerative disorders exp...

    journal_title:Frontiers in neurology

    pub_type: 杂志文章,评审

    doi:10.3389/fneur.2014.00165

    authors: Larson-Prior LJ,Ju YE,Galvin JE

    更新日期:2014-09-11 00:00:00

  • The Chitinases as Biomarkers for Amyotrophic Lateral Sclerosis: Signals From the CNS and Beyond.

    abstract::Amyotrophic lateral sclerosis (ALS) is a late-onset neurodegenerative condition, most widely characterized by the selective vulnerability of motor neurons and the poor life expectancy of afflicted patients. Limited disease-modifying therapies currently exist, which only further attests to the substantial heterogeneity...

    journal_title:Frontiers in neurology

    pub_type: 杂志文章,评审

    doi:10.3389/fneur.2020.00377

    authors: Gaur N,Perner C,Witte OW,Grosskreutz J

    更新日期:2020-05-27 00:00:00

  • Impaired Self-Other Distinction and Subcortical Gray-Matter Alterations Characterize Socio-Cognitive Disturbances in Multiple Sclerosis.

    abstract::Introduction: Recent studies of patients with multiple sclerosis (MS) have revealed disturbances in distinct components of social cognition, such as impaired mentalizing and empathy. The present study investigated this socio-cognitive profile in MS patients in more detail, by examining their performance on tasks measu...

    journal_title:Frontiers in neurology

    pub_type: 杂志文章

    doi:10.3389/fneur.2019.00525

    authors: Czekóová K,Shaw DJ,Saxunová K,Dufek M,Mareček R,Vaníček J,Brázdil M

    更新日期:2019-05-21 00:00:00

  • Drug-Resistant Epilepsy: Multiple Hypotheses, Few Answers.

    abstract::Epilepsy is a common neurological disorder that affects over 70 million people worldwide. Despite the recent introduction of new antiseizure drugs (ASDs), about one-third of patients with epilepsy have seizures refractory to pharmacotherapy. Early identification of patients who will become refractory to ASDs could hel...

    journal_title:Frontiers in neurology

    pub_type: 杂志文章,评审

    doi:10.3389/fneur.2017.00301

    authors: Tang F,Hartz AMS,Bauer B

    更新日期:2017-07-06 00:00:00

  • The Silencing Effect of microRNA miR-17 on p21 Maintains the Neural Progenitor Pool in the Developing Cerebral Cortex.

    abstract::Expansion of the neural progenitor pool in the developing cerebral cortex is crucial for controlling brain size, since proliferation defects have been associated with the pathogenesis of microcephaly in humans. Cell cycle regulators play important roles in proliferation of neural progenitors. Here, we show that the cy...

    journal_title:Frontiers in neurology

    pub_type: 杂志文章

    doi:10.3389/fneur.2014.00132

    authors: Chen Y,Bian S,Zhang J,Zhang H,Tang B,Sun T

    更新日期:2014-07-18 00:00:00

  • Grafting Neural Stem and Progenitor Cells Into the Hippocampus of Juvenile, Irradiated Mice Normalizes Behavior Deficits.

    abstract::The pool of neural stem and progenitor cells (NSPCs) in the dentate gyrus of the hippocampus is reduced by ionizing radiation. This explains, at least partly, the learning deficits observed in patients after radiotherapy, particularly in pediatric cases. An 8 Gy single irradiation dose was delivered to the whole brain...

    journal_title:Frontiers in neurology

    pub_type: 杂志文章

    doi:10.3389/fneur.2018.00715

    authors: Sato Y,Shinjyo N,Sato M,Nilsson MKL,Osato K,Zhu C,Pekna M,Kuhn HG,Blomgren K

    更新日期:2018-09-11 00:00:00

  • Microangiopathy-A Potential Contributing Factor to Idiopathic Polyneuropathy: A Mini Review.

    abstract::Chronic idiopathic axonal polyneuropathy (CIAP) is a slowly progressive predominantly sensory axonal polyneuropathy. The prevalence of CIAP increases with age. The pathogenic cause of CIAP is unknown although there are several prevailing etiological hypotheses. In this mini review, we focus on the hypothesis of distur...

    journal_title:Frontiers in neurology

    pub_type: 杂志文章,评审

    doi:10.3389/fneur.2018.00043

    authors: Samuelsson K,Press R

    更新日期:2018-02-12 00:00:00

  • Acute Seizures Occurring in Association With SARS-CoV-2.

    abstract::Seizures are an infrequent and serious neurological complication of SARS-CoV-2 infection, with limited data describing the etiology and the clinical context in which these occur or the associated electrographic and imaging findings. This series details four cases of seizures occurring in patients with COVID-19 with di...

    journal_title:Frontiers in neurology

    pub_type:

    doi:10.3389/fneur.2020.576329

    authors: Hwang ST,Ballout AA,Mirza U,Sonti AN,Husain A,Kirsch C,Kuzniecky R,Najjar S

    更新日期:2020-11-05 00:00:00

  • Cerebrospinal Fluid Concentrations of Neuronal Proteins Are Reduced in Primary Angiitis of the Central Nervous System.

    abstract::Primary angiitis of the central nervous system (PACNS) is a rare autoimmune vasculitis limited to the CNS often causing substantial disability. Understanding of this disease is impaired by the lack of available biomaterial. Here, we collected cerebrospinal fluid (CSF) from patients with PACNS and matched controls and ...

    journal_title:Frontiers in neurology

    pub_type: 杂志文章

    doi:10.3389/fneur.2018.00407

    authors: Ruland T,Wolbert J,Gottschalk MG,König S,Schulte-Mecklenbeck A,Minnerup J,Meuth SG,Groß CC,Wiendl H,Meyer Zu Hörste G

    更新日期:2018-06-05 00:00:00

  • The Maximum Bite Force for Treatment Evaluation in Severely Affected Adult SMA Patients-Protocol for a Longitudinal Study.

    abstract::Spinal muscular atrophy (SMA) is a severe neuromuscular disorder characterized by the degeneration of motor neurons in the spinal cord, and comprises a broad clinical spectrum. With the advent of new therapies (e.g., Nusinersen) for patients of all ages and disease stages, sensitive clinical measures are needed to det...

    journal_title:Frontiers in neurology

    pub_type: 杂志文章

    doi:10.3389/fneur.2020.00139

    authors: Kruse T,Lehmann HC,Braumann B,Fink GR,Wunderlich G

    更新日期:2020-02-25 00:00:00

  • Benefits of hemicraniectomy seen many years after malignant stroke in a young patient.

    abstract::The benefits of hemicraniectomy for malignant middle cerebral artery (MCA) stroke may not be apparent in the 3- to 6-months in which final outcomes are assessed in research studies. We present the case of a 15-year-old who underwent hemicraniectomy for malignant MCA stroke and was significantly disabled 3 and 6 months...

    journal_title:Frontiers in neurology

    pub_type: 杂志文章

    doi:10.3389/fneur.2012.00123

    authors: Mittal A,Mittal G,Partikian A,Liebeskind D,Sanossian N

    更新日期:2012-08-02 00:00:00

  • Uric Acid and Clinical Outcomes Among Intracerebral Hemorrhage Patients: Results From the China Stroke Center Alliance.

    abstract::Background and Purpose: The effect of uric acid (UA) levels on severity and prognosis of spontaneous intracerebral hemorrhage (ICH) remains controversial. We aimed to explore the association of admission UA levels with stroke severity and outcomes in ICH patients. Materials and Methods: The patients enrolled in this s...

    journal_title:Frontiers in neurology

    pub_type: 杂志文章

    doi:10.3389/fneur.2020.609938

    authors: Liu X,Cao Z,Gu H,Yang K,Ji R,Li Z,Zhao X,Wang Y

    更新日期:2020-12-03 00:00:00

  • The Efficacy and Tolerability of the Clonidine Transdermal Patch in the Treatment for Children with Tic Disorders: A Prospective, Open, Single-Group, Self-Controlled Study.

    abstract:BACKGROUND:To evaluate the efficacy and tolerability of a clonidine transdermal patch in the treatment of children with tic disorders (TD) and to establish a predictive model for patients. METHODS:Forty-one patients who met the inclusion criteria entered into 12 weeks of prospective, open, single-group, self-controlle...

    journal_title:Frontiers in neurology

    pub_type: 杂志文章

    doi:10.3389/fneur.2017.00032

    authors: Song PP,Jiang L,Li XJ,Hong SQ,Li SZ,Hu Y

    更新日期:2017-02-23 00:00:00

  • The Crucial Changes of Sit-to-Stand Phases in Subacute Stroke Survivors Identified by Movement Decomposition Analysis.

    abstract:Objective:The aim of this study was to detect the key changes during sit-to-stand (STS) movement cycle in hemiparetic stroke survivors using a five-phase kinematic and kinetic analysis. Methods:Twenty-five subacute stroke survivors and 17 age-matched healthy adults participated in this study. The kinematic and kinetic...

    journal_title:Frontiers in neurology

    pub_type: 杂志文章

    doi:10.3389/fneur.2018.00185

    authors: Mao YR,Wu XQ,Zhao JL,Lo WLA,Chen L,Ding MH,Xu ZQ,Bian RH,Huang DF,Li L

    更新日期:2018-03-26 00:00:00

  • The Multifaceted Role of Astrocyte Connexin 43 in Ischemic Stroke Through Forming Hemichannels and Gap Junctions.

    abstract::Ischemic stroke is a multi-factorial cerebrovascular disease with high worldwide morbidity and mortality. In the past few years, multiple studies have revealed the underlying mechanism of ischemia/reperfusion injury, including calcium overload, amino acid toxicity, oxidative stress, and inflammation. Connexin 43 (Cx43...

    journal_title:Frontiers in neurology

    pub_type: 杂志文章,评审

    doi:10.3389/fneur.2020.00703

    authors: Liang Z,Wang X,Hao Y,Qiu L,Lou Y,Zhang Y,Ma D,Feng J

    更新日期:2020-07-31 00:00:00

  • Accuracy of Emergency Medical Services Dispatcher and Crew Diagnosis of Stroke in Clinical Practice.

    abstract:BACKGROUND:Accurate recognition of stroke symptoms by Emergency Medical Services (EMS) is necessary for timely care of acute stroke patients. We assessed the accuracy of stroke diagnosis by EMS in clinical practice in a major US city. METHODS AND RESULTS:Philadelphia Fire Department data were merged with data from a s...

    journal_title:Frontiers in neurology

    pub_type: 杂志文章

    doi:10.3389/fneur.2017.00466

    authors: Jia J,Band R,Abboud ME,Pajerowski W,Guo M,David G,Mechem CC,Messé SR,Carr BG,Mullen MT

    更新日期:2017-09-14 00:00:00

  • Money Management in Multiple Sclerosis: The Role of Cognitive, Motor, and Affective Factors.

    abstract::Introduction: Few studies have examined the motor, cognitive, and emotional factors involved in effective money management in persons with multiple sclerosis (MS). The aim of this study was to assess money management in persons MS and examine whether cognitive, motor, and emotional processes can predict money manageme...

    journal_title:Frontiers in neurology

    pub_type: 杂志文章

    doi:10.3389/fneur.2019.01128

    authors: Yael G,Nancy C,John D

    更新日期:2019-10-23 00:00:00

  • Narcolepsy Following Yellow Fever Vaccination: A Case Report.

    abstract::Narcolepsy with cataplexy is a rare, but important differential diagnosis for daytime sleepiness and atonic paroxysms in an adolescent. A recent increase in incidence in the pediatric age group probably linked to the use of the Pandemrix influenza vaccine in 2009, has increased awareness that different environmental f...

    journal_title:Frontiers in neurology

    pub_type:

    doi:10.3389/fneur.2016.00130

    authors: Rosch RE,Farquhar M,Gringras P,Pal DK

    更新日期:2016-08-10 00:00:00

  • Acute Injection of Omega-3 Triglyceride Emulsion Provides Very Similar Protection as Hypothermia in a Neonatal Mouse Model of Hypoxic-Ischemic Brain Injury.

    abstract::Therapeutic hypothermia (HT) is a currently accepted treatment for neonatal asphyxia and is a promising strategy in adult stroke therapy. We previously reported that acute administration of docosahexaenoic acid (DHA) triglyceride emulsion (tri-DHA) protects against hypoxic-ischemic (HI) injury in neonatal mice. We que...

    journal_title:Frontiers in neurology

    pub_type: 杂志文章

    doi:10.3389/fneur.2020.618419

    authors: Manual Kollareth DJ,Zirpoli H,Ten VS,Deckelbaum RJ

    更新日期:2021-01-15 00:00:00

  • Impaired Firing Behavior of Individually Tracked Paretic Motor Units During Fatiguing Contractions of the Dorsiflexors and Functional Implications Post Stroke.

    abstract::Introduction: This study quantified stroke-related changes in the following: (1) the averaged discharge rate of motor units (individually tracked and untracked) identified from high-density electromyography (HD-EMG) recordings, (2) global muscle EMG properties of the dorsiflexors during a fatiguing contraction, and th...

    journal_title:Frontiers in neurology

    pub_type: 杂志文章

    doi:10.3389/fneur.2020.540893

    authors: Negro F,Bathon KE,Nguyen JN,Bannon CG,Orizio C,Hunter SK,Hyngstrom AS

    更新日期:2020-10-29 00:00:00

  • Lateral Fluid Percussion Injury Impairs Hippocampal Synaptic Soluble N-Ethylmaleimide Sensitive Factor Attachment Protein Receptor Complex Formation.

    abstract::Traumatic brain injury (TBI) and the activation of secondary injury mechanisms have been linked to impaired cognitive function, which, as observed in TBI patients and animal models, can persist for months and years following the initial injury. Impairments in neurotransmission have been well documented in experimental...

    journal_title:Frontiers in neurology

    pub_type: 杂志文章

    doi:10.3389/fneur.2017.00532

    authors: Carlson SW,Henchir J,Dixon CE

    更新日期:2017-10-10 00:00:00

  • lop-DWI: A Novel Scheme for Pre-Processing of Diffusion-Weighted Images in the Gradient Direction Domain.

    abstract::We describe and evaluate a pre-processing method based on a periodic spiral sampling of diffusion-gradient directions for high angular resolution diffusion magnetic resonance imaging. Our pre-processing method incorporates prior knowledge about the acquired diffusion-weighted signal, facilitating noise reduction. Peri...

    journal_title:Frontiers in neurology

    pub_type: 杂志文章

    doi:10.3389/fneur.2014.00290

    authors: Sepehrband F,Choupan J,Caruyer E,Kurniawan ND,Gal Y,Tieng QM,McMahon KL,Vegh V,Reutens DC,Yang Z

    更新日期:2015-01-12 00:00:00

  • Bumetanide As a Candidate Treatment for Behavioral Problems in Tuberous Sclerosis Complex.

    abstract:BACKGROUND:Recent studies indicate excitatory GABA action in and around tubers in patients with tuberous sclerosis complex (TSC). This may contribute to recurrent seizures and behavioral problems that may be treated by agents that enhance GABAergic transmission by influencing chloride regulation. CASE PRESENTATION:Her...

    journal_title:Frontiers in neurology

    pub_type:

    doi:10.3389/fneur.2017.00469

    authors: Vlaskamp C,Poil SS,Jansen F,Linkenkaer-Hansen K,Durston S,Oranje B,Bruining H

    更新日期:2017-09-08 00:00:00

  • Cellular Biology of Tau Diversity and Pathogenic Conformers.

    abstract::Tau accumulation is a prominent feature in a variety of neurodegenerative disorders and remarkable effort has been expended working out the biochemistry and cell biology of this cytoplasmic protein. Tau's wayward properties may derive from germline mutations in the case of frontotemporal lobar degeneration (FTLD-MAPT)...

    journal_title:Frontiers in neurology

    pub_type: 杂志文章,评审

    doi:10.3389/fneur.2020.590199

    authors: Kang SG,Eskandari-Sedighi G,Hromadkova L,Safar JG,Westaway D

    更新日期:2020-11-12 00:00:00

  • Intermittent Hypoxia Is Associated With High Hypoxia Inducible Factor-1α but Not High Vascular Endothelial Growth Factor Cell Expression in Tumors of Cutaneous Melanoma Patients.

    abstract::Epidemiological associations linking between obstructive sleep apnea and poorer solid malignant tumor outcomes have recently emerged. Putative pathways proposed to explain that these associations have included enhanced hypoxia inducible factor (HIF)-1α and vascular endothelial growth factor (VEGF) cell expression in t...

    journal_title:Frontiers in neurology

    pub_type: 杂志文章

    doi:10.3389/fneur.2018.00272

    authors: Almendros I,Martínez-García MÁ,Campos-Rodríguez F,Riveiro-Falkenbach E,Rodríguez-Peralto JL,Nagore E,Martorell-Calatayud A,Hernández Blasco L,Bañuls Roca J,Chiner Vives E,Sánchez-de-la-Torre A,Abad-Capa J,Montserrat JM,Pérez-Gi

    更新日期:2018-04-26 00:00:00

  • A Touchscreen Motivation Assessment Evaluated in Huntington's Disease Patients and R6/1 Model Mice.

    abstract::Apathy is pervasive across many neuropsychiatric disorders but is poorly characterized mechanistically, so targeted therapeutic interventions remain elusive. A key impediment has been the lack of validated assessment tools to facilitate translation of promising findings between preclinical disease models and patients....

    journal_title:Frontiers in neurology

    pub_type: 杂志文章

    doi:10.3389/fneur.2019.00858

    authors: Heath CJ,O'Callaghan C,Mason SL,Phillips BU,Saksida LM,Robbins TW,Barker RA,Bussey TJ,Sahakian BJ

    更新日期:2019-08-09 00:00:00

  • Functional magnetic resonance imaging in narcolepsy and the kleine-levin syndrome.

    abstract::This work aims at reviewing the present state of the art when it comes to understanding the pathophysiology of narcolepsy and the Kleine-Levin syndrome (KLS) from a neuroimaging point of view. This work also aims at discussing future perspectives of functional neuroimaging in these sleep disorders. We focus on functio...

    journal_title:Frontiers in neurology

    pub_type: 杂志文章,评审

    doi:10.3389/fneur.2014.00105

    authors: Engström M,Hallböök T,Szakacs A,Karlsson T,Landtblom AM

    更新日期:2014-06-25 00:00:00

  • Skilled reaching and grasping in the rat: lacking effect of corticospinal lesion.

    abstract::The corticospinal system is a major motor pathway in the control of skilled voluntary movements such as reaching and grasping. It has developed considerably phylogenetically to reach a peak in humans. Because rodents possess advanced forelimb movements that can be used for reaching and grasping food, it is commonly co...

    journal_title:Frontiers in neurology

    pub_type: 杂志文章

    doi:10.3389/fneur.2014.00103

    authors: Alstermark B,Pettersson LG

    更新日期:2014-06-20 00:00:00

  • Tradipitant in the Treatment of Motion Sickness: A Randomized, Double-Blind, Placebo-Controlled Study.

    abstract::Introduction: Novel therapies are needed for the treatment of motion sickness given the inadequate relief and bothersome and dangerous adverse effects of currently approved therapies. Neurokinin-1 (NK1) receptor antagonists have the potential to be effective in improving the symptoms of motion sickness, given the invo...

    journal_title:Frontiers in neurology

    pub_type:

    doi:10.3389/fneur.2020.563373

    authors: Polymeropoulos VM,Czeisler MÉ,Gibson MM,Anderson AA,Miglo J,Wang J,Xiao C,Polymeropoulos CM,Birznieks G,Polymeropoulos MH

    更新日期:2020-09-29 00:00:00

  • The vestibular implant: quo vadis?

    abstract:OBJECTIVE:To assess the progress of the development of the vestibular implant (VI) and its feasibility short-term. DATA SOURCES:A search was performed in Pubmed, Medline, and Embase. Key words used were "vestibular prosth*" and "VI." The only search limit was language: English or Dutch. Additional sources were medical...

    journal_title:Frontiers in neurology

    pub_type: 杂志文章

    doi:10.3389/fneur.2011.00047

    authors: van de Berg R,Guinand N,Stokroos RJ,Guyot JP,Kingma H

    更新日期:2011-08-11 00:00:00