Contents Editorial Commentaries Cognition Migraine Neuromuscular Neurogenetics Neurodegeneration
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Clinical Rating Scale for Pantothenate Kinase-Associated Neurodegeneration: a Pilot Study
RESEARCH ARTICLE Clinical Rating Scale for Pantothenate Kinase-Associated Neurodegeneration: A Pilot Study Alejandra Darling, MD,1 Cristina Tello, PhD,2 Marı´a Josep Martı´, MD, PhD,3 Cristina Garrido, MD,4 Sergio Aguilera-Albesa, MD, PhD,5 Miguel Tomas Vila, MD,6 Itziar Gaston, MD,7 Marcos Madruga, MD,8 Luis Gonzalez Gutierrez, MD,9 Julio Ramos Lizana, MD,10 Montserrat Pujol, MD,11 Tania Gavilan Iglesias, MD,12 Kylee Tustin,13 Jean Pierre Lin, MD, PhD,13 Giovanna Zorzi, MD, PhD,14 Nardo Nardocci, MD, PhD,14 Loreto Martorell, PhD,15 Gustavo Lorenzo Sanz, MD,16 Fuencisla Gutierrez, MD,17 Pedro J. Garcı´a, MD,18 Lidia Vela, MD,19 Carlos Hernandez Lahoz, MD,20 Juan Darı´o Ortigoza Escobar, MD,1 Laura Martı´ Sanchez, 1 Fradique Moreira, MD ,21 Miguel Coelho, MD,22 Leonor Correia Guedes,23 Ana Castro Caldas, MD,24 Joaquim Ferreira, MD,22,23 Paula Pires, MD,24 Cristina Costa, MD,25 Paulo Rego, MD,26 Marina Magalhaes,~ MD,27 Marı´a Stamelou, MD,28,29 Daniel Cuadras Palleja, MD,30 Carmen Rodrı´guez-Blazquez, PhD,31 Pablo Martı´nez-Martı´n, MD, PhD,31 Vincenzo Lupo, PhD,2 Leonidas Stefanis, MD,28 Roser Pons, MD,32 Carmen Espinos, PhD,2 Teresa Temudo, MD, PhD,4 and Belen Perez Duenas,~ MD, PhD1,33* 1Unit of Pediatric Movement Disorders, Hospital Sant Joan de Deu, Barcelona, Spain 2Unit of Genetics and Genomics of Neuromuscular and Neurodegenerative Disorders, Centro de Investigacion Prı´ncipe Felipe, Valencia, Spain 3Neurology Department, Hospital Clı´nic de Barcelona, Institut d’Investigacions Biomediques IDIBAPS. -
Management of Postpolio Syndrome
Review Management of postpolio syndrome Henrik Gonzalez, Tomas Olsson, Kristian Borg Lancet Neurol 2010; 9: 634–42 Postpolio syndrome is characterised by the exacerbation of existing or new health problems, most often muscle weakness See Refl ection and Reaction and fatigability, general fatigue, and pain, after a period of stability subsequent to acute polio infection. Diagnosis is page 561 based on the presence of a lower motor neuron disorder that is supported by neurophysiological fi ndings, with exclusion Division of Rehabilitation of other disorders as causes of the new symptoms. The muscle-related eff ects of postpolio syndrome are possibly Medicine, Department of associated with an ongoing process of denervation and reinnervation, reaching a point at which denervation is no Clinical Sciences, Danderyd Hospital (H Gonzalez MD, longer compensated for by reinnervation. The cause of this denervation is unknown, but an infl ammatory process is K Borg MD) and Department of possible. Rehabilitation in patients with postpolio syndrome should take a multiprofessional and multidisciplinary Clinical Neurosciences, Centre approach, with an emphasis on physiotherapy, including enhanced or individually modifi ed physical activity, and muscle for Molecular Medicine training. Patients with postpolio syndrome should be advised to avoid both inactivity and overuse of weak muscles. (T Olsson MD), Karolinska Institute, Stockholm, Sweden Evaluation of the need for orthoses and assistive devices is often required. Correspondence to: Henrik Gonzalez, Division of Introduction summary of the pathophysiology and clinical Rehabilitation Medicine, 12–20 million people worldwide have sequelae of characteristics of postpolio syndrome, outline diagnostic Department of Clinical Sciences, poliomyelitis, according to Post-Polio Health and treatment options, and suggest future research Karolinska Institute, Danderyd Hospital, S-182 88 Stockholm, International. -
The Neurogenetics of Group Behavior in Drosophila Melanogaster Pavan Ramdya1,*, Jonathan Schneider2,* and Joel D
© 2017. Published by The Company of Biologists Ltd | Journal of Experimental Biology (2017) 220, 35-41 doi:10.1242/jeb.141457 REVIEW The neurogenetics of group behavior in Drosophila melanogaster Pavan Ramdya1,*, Jonathan Schneider2,* and Joel D. Levine2,* ABSTRACT that are ripe for neurobiological investigation: the formation of Organisms rarely act in isolation. Their decisions and movements are social networks and the regulation of collective behavior. often heavily influenced by direct and indirect interactions with conspecifics. For example, we each represent a single node within a Social networks social network of family and friends, and an even larger network of In animal groups, individuals can be drawn toward or away from one strangers. This group membership can affect our opinions and another for a variety of reasons. For example, long-lasting bonds actions. Similarly, when in a crowd, we often coordinate our may exist between family members. On shorter time scales, movements with others like fish in a school, or birds in a flock. individuals may be sexually attracted to one another, or to Contributions of the group to individual behaviors are observed environmental resources such as food patches (Ramos-Fernández across a wide variety of taxa but their biological mechanisms remain et al., 2006). Individuals may also avoid one another because of largely unknown. With the advent of powerful computational tools social or sexual competition, or to maintain a comfortable distance as well as the unparalleled genetic accessibility and surprisingly from their neighbors (Simon et al., 2011). The process of satisfying rich social life of Drosophila melanogaster, researchers now have a these opposing forces gives rise to a dynamic group-level structure unique opportunity to investigate molecular and neuronal called a social network (Kossinets and Watts, 2006). -
Computational Neurogenetics
Journal of Theoretical and Computational Nanoscience, vol.1 (1) American Scientific Publisher, 2004, in print Computational Neurogenetics ∗ Nikola Kasabov ∗∗ and Lubica Benuskova Knowledge Engineering and Discovery Research Institute School of Information Technology Auckland University of Technology Auckland, New Zealand Address: AUT Technology Park, 581-585 Great South Road, Penrose, Auckland, New Zealand Phone 64 9 917 9506 Fax 64 9 917 9501 Emails: [email protected]; [email protected] WWW: http://www.kedri.info ∗ The author to whom correspondence regarding the manuscript should be directed. 1 Journal of Theoretical and Computational Nanoscience, vol.1 (1) American Scientific Publisher, 2004, in print Abstract The aim of the paper is to introduce the scope and the problems of a new research area called Computational Neurogenetics (CNG), along with some solutions and directions for further research. CNG is concerned with the study and the development of dynamic neuronal models integrated with gene models. This area brings together knowledge from various science disciplines, such as computer and information science, neuroscience and cognitive study, genetics and molecular biology. A computational neurogenetic model is created to model a brain function or a brain disease manifestation, or to be used as a general mathematical model for solving complex scientific and engineering problems. The CNG area goes beyond modelling simple relationship between a single gene and a single neuronal function or a neuronal parameter. It is the interaction between hundreds and thousands of genes in a neuron and their relationship with the functioning of a neuronal ensemble and the brain as a whole (e.g., learning and memory, speech and vision, epilepsy, mental retardation, aging, neural stem cells, etc.). -
Neurochemistry & Metabolic Test Request Form
5424 Glenridge Drive NE Neurochemistry & Metabolic Atlanta, GA 30342 USA toll-free: 678.225.0222 Test Request Form fax: 678.225.0212 mnglabs.com We gladly accept deliveries Monday-Saturday, excluding holidays CLIA License #11D0703390; CAP License #1441004; State of Georgia License #060-381 Patient Name DOB STAT Testing Now Available For STAT Testing, please see page 4. Metabolic CSF (MET01) Amino Acids (NC04) Neurotransmitter Metabolites (NC07) Sialic Acid [Disorders with Hypomyelination of Unknown Etiology/ (MET07) Lactate (5HIAA, HVA, 3OMD) [Includes Biomarkers for Pyridoxine Responsive Seizures] Sialic Acid Storage Disorders] (MET11) Pyruvate* (NC05) Pyridoxal 5’-phosphate (NC08) Alpha-Aminoadipic (NC01) 5-Methyltetrahydrofolate [Pyridox[am]ine Phosphateoxidase Deficiency + Semialdehyde [Pyridoxine-Responsive Seizures] (NC02) Neopterin [Marker for CNS CNS Pyridoxal 5’-phosphate Deficiency] Immune System Stimulation] (NC09) 4-Hydroxybutyric Acid (NC06) Succinyladenosine [Succinic Semialdehyde Dehydrogenase (NC03) Neopterin/Tetrahydrobiopterin [Adenylosuccinate Lyase Deficiency] Deficiency] (NC10) Glucose [Glucose Transporter Deficiency] Blood & Muscle (MET02) Amino acids (Plasma) (MET08) Lactate (Plasma) (MET23) Creatine & Guanidinoacetate (MET04) Coenzyme Q10 Level (MET09) Phenylalanine Loading (Plasma) (Leukocytes) Assay (Plasma) (MET24) Glucose (Plasma) (MET05) Coenzyme Q10 Level (MET10) Pyruvate* (Blood) (MET29) 3-O-Methyldopa (Plasma) (Muscle) (MET12) Thymidine/Deoxyuridine [Specific Marker for Aromatic L-Amino Analytes (Plasma) -
Episodic Visual Snow Associated with Migraine Attacks
Letters RESEARCH LETTER Discussion | Three patients report episodes of VS exclusively at the beginning or during migraine attacks. The description was Episodic Visual Snow Associated identical and matched the definition of VS in VSS except for With Migraine Attacks not being continuous.1,2 In the syndrome-defining study,1 only Visual snow syndrome (VSS) is a debilitating disorder charac- patients with continuous VS were included, impeding the iden- terized by continuous visual snow (VS), ie, tiny flickering dots tification of an episodic form. Based on the present case se- in the entire visual field resembling the view of a badly tuned ries, we propose to distinguish between VSS, a debilitating dis- analog television (Figure), plus additional visual symptoms, order characterized by continuous VS and additional visual such as photophobia and palinopsia. There is a high comor- symptoms persisting over years, and eVS, an uncommon self- 1 bidity with migraine and migraine aura. To our knowledge, limiting symptom during migraine attacks. this is the first report of patients with an episodic form of VS The relationship between migraine and VSS is still (eVS), strictly co-occurring with migraine attacks. unresolved.3 Although the severity of VS in VSS does not fluc- tuate in parallel to the migraine cycle,1 the strict co-occurrence Methods | Between January 2016 and December 2017, we saw of eVS and migraine reported here epitomizes a close proxim- 3 patients with eVS and 1934 patients with migraine at our ter- ity.This is in agreement with the clinical picture of migraine being tiary outpatient headache center. -
Exacerbation of Motor Neuron Disease by Chronic Stimulation of Innate Immunity in a Mouse Model of Amyotrophic Lateral Sclerosis
1340 • The Journal of Neuroscience, February 11, 2004 • 24(6):1340–1349 Neurobiology of Disease Exacerbation of Motor Neuron Disease by Chronic Stimulation of Innate Immunity in a Mouse Model of Amyotrophic Lateral Sclerosis Minh Dang Nguyen,1 Thierry D’Aigle,2 Genevie`ve Gowing,1,2 Jean-Pierre Julien,1,2 and Serge Rivest2 1McGill University Health Center, Centre for Research in Neurosciences, McGill University, The Montreal General Hospital Research Institute, Montre´al, Que´bec H3G 1A4, Canada, and 2Laboratory of Molecular Endocrinology, Laval University Medical Center Research Center and Department of Anatomy and Physiology, Laval University, Sainte-Foy, Que´bec G1V 4G2, Canada Innate immunity is a specific and organized immunological program engaged by peripheral organs and the CNS to maintain homeostasis after stress and injury. In neurodegenerative disorders, its putative deregulation, featured by inflammation and activation of glial cells resulting from inherited mutations or viral/bacterial infections, likely contributes to neuronal death. However, it remains unclear to what extent environmental factors and innate immunity cooperate to modulate the interactions between the neuronal and non-neuronal elements in the perturbed CNS. In the present study, we addressed the effects of acute and chronic administration of lipopolysaccharide (LPS), a Gram-negative bacterial wall component, in a genetic model of neurodegeneration. Transgenic mice expressing a mutant form of the superoxide dismutase 1 (SOD1 G37R) linked to familial amyotrophic lateral sclerosis were challenged intraperitoneally with a single nontoxic or repeated injections of LPS (1 mg/kg). At different ages, SOD1 G37R mice responded normally to acute endotoxemia. Remark- ably, only a chronic challenge with LPS in presymptomatic 6-month-old SOD1 G37R mice exacerbated disease progression by 3 weeks and motor axon degeneration. -
Treatment for Disease Modification in Chronic Neurodegeneration
cells Review Perspective: Treatment for Disease Modification in Chronic Neurodegeneration Thomas Müller 1,* , Bernhard Klaus Mueller 1 and Peter Riederer 2,3 1 Department of Neurology, St. Joseph Hospital Berlin-Weissensee, Gartenstr. 1, 13088 Berlin, Germany; [email protected] 2 Center of Mental Health, Department of Psychiatry, Psychosomatics and Psychotherapy, University Hospital Würzburg, Margarete-Höppel-Platz 1, 97080 Würzburg, Germany; [email protected] 3 Department of Psychiatry, Southern Denmark University Odense, J.B. Winslows Vey 18, 5000 Odense, Denmark * Correspondence: [email protected] Abstract: Symptomatic treatments are available for Parkinson’s disease and Alzheimer’s disease. An unmet need is cure or disease modification. This review discusses possible reasons for negative clinical study outcomes on disease modification following promising positive findings from experi- mental research. It scrutinizes current research paradigms for disease modification with antibodies against pathological protein enrichment, such as α-synuclein, amyloid or tau, based on post mortem findings. Instead a more uniform regenerative and reparative therapeutic approach for chronic neurodegenerative disease entities is proposed with stimulation of an endogenously existing repair system, which acts independent of specific disease mechanisms. The repulsive guidance molecule A pathway is involved in the regulation of peripheral and central neuronal restoration. Therapeutic antagonism of repulsive guidance molecule A reverses neurodegeneration according to experimental Citation: Müller, T.; Mueller, B.K.; outcomes in numerous disease models in rodents and monkeys. Antibodies against repulsive guid- Riederer, P. Perspective: Treatment for ance molecule A exist. First clinical studies in neurological conditions with an acute onset are under Disease Modification in Chronic Neurodegeneration. Cells 2021, 10, way. -
Gut–Brain Axis and Neurodegeneration: State-Of-The-Art of Meta-Omics Sciences for Microbiota Characterization
International Journal of Molecular Sciences Review Gut–Brain Axis and Neurodegeneration: State-of-the-Art of Meta-Omics Sciences for Microbiota Characterization Bruno Tilocca 1 , Luisa Pieroni 2 , Alessio Soggiu 3,4 , Domenico Britti 1 , Luigi Bonizzi 4, 1, , 5,6, Paola Roncada * y and Viviana Greco * 1 Department of Health Sciences, University “Magna Græcia” of Catanzaro, viale Europa, 88100 Catanzaro, Italy; [email protected] (B.T.); [email protected] (D.B.) 2 Proteomics and Metabonomics Unit, Fondazione Santa Lucia-IRCCS, via del Fosso di Fiorano, 64-00143 Rome, Italy; [email protected] 3 Department of Biomedical, Surgical and Dental Sciences- One Health Unit, University of Milano, via Celoria 10, 20133 Milano, Italy; [email protected] 4 Department of Veterinary Medicine, University of Milano, Via dell’Università, 6- 26900 Lodi, Italy; [email protected] 5 Department of Basic Biotechnological Sciences, Intensivological and Perioperative Clinics, Università Cattolica del Sacro Cuore, Largo F. Vito 1, 00168 Rome, Italy 6 Fondazione Policlinico Universitario Agostino Gemelli, Largo A. Gemelli, 8-00168 Rome, Italy * Correspondence: [email protected] (P.R.); [email protected] (V.G.) Which represents the co-corresponding author. y Received: 14 May 2020; Accepted: 4 June 2020; Published: 5 June 2020 Abstract: Recent advances in the field of meta-omics sciences and related bioinformatics tools have allowed a comprehensive investigation of human-associated microbiota and its contribution to achieving and maintaining the homeostatic balance. Bioactive compounds from the microbial community harboring the human gut are involved in a finely tuned network of interconnections with the host, orchestrating a wide variety of physiological processes. -
Capsaicin Prevents Degeneration of Dopamine Neurons by Inhibiting Glial Activation and Oxidative Stress in the MPTP Model of Parkinson’S Disease
OPEN Experimental & Molecular Medicine (2017) 49, e298; doi:10.1038/emm.2016.159 & 2017 KSBMB. All rights reserved 2092-6413/17 www.nature.com/emm ORIGINAL ARTICLE Capsaicin prevents degeneration of dopamine neurons by inhibiting glial activation and oxidative stress in the MPTP model of Parkinson’s disease Young C Chung1,8, Jeong Y Baek2,8, Sang R Kim3,4, Hyuk W Ko1, Eugene Bok4, Won-Ho Shin5, So-Yoon Won6 and Byung K Jin2,7 The effects of capsaicin (CAP), a transient receptor potential vanilloid subtype 1 (TRPV1) agonist, were determined on nigrostriatal dopamine (DA) neurons in the 1-methyl-4-phenyl-1,2,3,6-tetrahydropyridine (MPTP) mouse model of Parkinson’s disease (PD). The results showed that TRPV1 activation by CAP rescued nigrostriatal DA neurons, enhanced striatal DA functions and improved behavioral recovery in MPTP-treated mice. CAP neuroprotection was associated with reduced expression of proinflammatory cytokines (tumor necrosis factor-α and interleukin-1β) and reactive oxygen species/reactive nitrogen species from activated microglia-derived NADPH oxidase, inducible nitric oxide synthase or reactive astrocyte-derived myeloidperoxidase. These beneficial effects of CAP were reversed by treatment with the TRPV1 antagonists capsazepine and iodo-resiniferatoxin, indicating TRPV1 involvement. This study demonstrates that TRPV1 activation by CAP protects nigrostriatal DA neurons via inhibition of glial activation-mediated oxidative stress and neuroinflammation in the MPTP mouse model of PD. These results suggest that CAP and its analogs may be beneficial therapeutic agents for the treatment of PD and other neurodegenerative disorders that are associated with neuroinflammation and glial activation-derived oxidative damage. -
Neurogenetics FRIDAY OCTOBER 27, 2017
Department of Neurology Fall Symposium: Neurogenetics FRIDAY OCTOBER 27, 2017 https://bit.ly/2fNFmBZ Check in begins at 7:30am Damasio Conference Room University of Iowa Hospitals and Clinics Elevator C, Level 7 PROVIDED BY INTENDED AUDIENCE University of Iowa Health Care Department of Neurology Neurologists, Healthcare Providers, Allied Health, Resi- University of Iowa Roy J. and Lucille A. Carver College of Medicine. dents (current and Former), Fellows, & Students GENERAL INFORMATION OBJECTIVES Upon completion of this program the learner should be able to: • Identify neurogenetic disease of the brain, spinal cord, nerve, and muscle • Utilize the current standards of care for managing these disorders • Describe how to diagnose and differentiate these disorders in a rational manner • Discuss the clinical presentation and management of genetic diseases of the brain, spinal cord, nerve and muscle • Explain advances in translational science for these neurogenetic disorders • Review the underlying etiologies for these disorders and approaches to treatment • Evaluate patients and families with neurogenetic conditions Welcome Reception REGISTRATION A welcome reception will be held Thursday Thanks to several sponsors this years October 26th from 7-9 at the Share Wine Lounge hile symposium is free for all attendees. W & Small Bistro at the Sheraton Iowa City Hotel. registration is open until the start of the conference, we encourage early registration to enable us to provide the Parking best possible service. Parking is available in the hospital -
Eye Movements in Neurodegenerative Diseases
REVIEW CURRENT OPINION Eye movements in neurodegenerative diseases Michael R. MacAskill a,b and Tim J. Andersona,b,c Purpose of review Abnormalities of oculomotor control accompany the pathological changes underlying many neurodegenerative diseases. Clinical examination of eye movements can contribute to differential diagnosis, whereas quantitative laboratory measures can provide detailed insight into the disease process. In this review of eye movements in neurodegenerative disease, we summarise recent empirical findings and conceptual advances. Recent findings Oculomotor researchers continue to be particularly prolific in studying Parkinson’s disease but there is also substantial activity in Alzheimer’s disease and spinocerebellar ataxia. Interesting findings have been reported in Huntington’s, motor neuron disease, and glaucoma. Most studies report laboratory-based investigations but useful progress in clinical description continues to be made. Summary Eye movements remain an active field of investigation across a variety of neurodegenerative conditions. Progress continues to be made at the clinical level as well by using laboratory techniques. Keywords Alzheimer’s disease, dementia, eye movement, neurodegeneration, Parkinson’s disease, saccade, spinocerebellar ataxia INTRODUCTION Mobile eye tracking technology is now also enabling The control of eye movement involves extensive insights into oculomotor control in more natural- networks of cerebral regions, spanning brainstem istic tasks (e.g. Fig. 2). to neo-cortex. Therefore, regardless