Movement Disorders Program & the Murray Center for Research on Parkinson's Disease & Related Disorders
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Physiology of Basal Ganglia Disorders: an Overview
LE JOURNAL CANADIEN DES SCIENCES NEUROLOGIQUES SILVERSIDES LECTURE Physiology of Basal Ganglia Disorders: An Overview Mark Hallett ABSTRACT: The pathophysiology of the movement disorders arising from basal ganglia disorders has been uncer tain, in part because of a lack of a good theory of how the basal ganglia contribute to normal voluntary movement. An hypothesis for basal ganglia function is proposed here based on recent advances in anatomy and physiology. Briefly, the model proposes that the purpose of the basal ganglia circuits is to select and inhibit specific motor synergies to carry out a desired action. The direct pathway is to select and the indirect pathway is to inhibit these synergies. The clinical and physiological features of Parkinson's disease, L-DOPA dyskinesias, Huntington's disease, dystonia and tic are reviewed. An explanation of these features is put forward based upon the model. RESUME: La physiologie des affections du noyau lenticulaire, du noyau caude, de I'avant-mur et du noyau amygdalien. La pathophysiologie des desordres du mouvement resultant d'affections du noyau lenticulaire, du noyau caude, de l'avant-mur et du noyau amygdalien est demeuree incertaine, en partie parce qu'il n'existe pas de bonne theorie expliquant le role de ces structures anatomiques dans le controle du mouvement volontaire normal. Nous proposons ici une hypothese sur leur fonction basee sur des progres recents en anatomie et en physiologie. En resume, le modele pro pose que leurs circuits ont pour fonction de selectionner et d'inhiber des synergies motrices specifiques pour ex£cuter Taction desiree. La voie directe est de selectionner et la voie indirecte est d'inhiber ces synergies. -
Comorbid Neuropathologies in Migraine Luigi Olivieri Stefano Bastianello Antonio Carolei
View metadata, citation and similar papers at core.ac.uk brought to you by CORE provided by Springer - Publisher Connector J Headache Pain (2006) 7:222–230 DOI 10.1007/s10194-006-0300-8 TUTORIAL Simona Sacco Comorbid neuropathologies in migraine Luigi Olivieri Stefano Bastianello Antonio Carolei Received: 20 April 2006 Abstract The identification of cause, and migraine associated Accepted in revised form: 16 May 2006 comorbid disorders in migraineurs with subclinical vascular brain Published online: 15 June 2006 is important since it may impose lesions. therapeutic challenges and limit treatment options. Moreover, the study of comorbidity might lead to improve our knowledge about S. Sacco • L. Olivieri • A. Carolei Department of Neurology, causes and consequences of University of L’Aquila, migraine. Comorbid neuropatholo- 67100 L’Aquila, Italy gies in migraine may involve mood disorders (depression, S. Bastianello IRCCS C. Mondino mania, anxiety, panic attacks), Pavia, Italy epilepsy, essential tremor, stroke, and white matter abnormalities. A. Carolei (౧) Particularly, a complex bidirection- Neurologic Clinic, al relation exists between migraine Department of Internal Medicine and stroke, including migraine as a and Public Health, risk factor for cerebral ischemia, University of L’Aquila, migraine caused by cerebral Piazzale Salvatore Tommasi 1, I-67100 L’Aquila-Coppito, Italia ischemia, migraine as a cause of Key words Migraine • Depression • e-mail: [email protected] stroke, migraine mimicking cere- Epilepsy • Tremor • Stroke • White -
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. -
Radiologic-Clinical Correlation Hemiballismus
Radiologic-Clinical Correlation Hemiballismus James M. Provenzale and Michael A. Schwarzschild From the Departments of Radiology (J.M.P.), Duke University Medical Center, Durham, and f'leurology (M.A.S.), Massachusetts General Hospital, Boston Clinical History derived from the Greek word meaning "to A 65-year-old recently retired surgeon in throw," because the typical involuntary good health developed disinhibited behavior movements of the affected limbs resemble over the course of a few months, followed by the motions of throwing ( 1) . Such move onset of unintentional, forceful flinging move ments usually involve one side of the body ments of his right arm and leg. Magnetic res (hemiballismus) but may involve one ex onance imaging demonstrated a 1-cm rim tremity (monoballism), both legs (parabal enhancing mass in the left subthalamic lism), or all the extremities (biballism) (2, 3). region, which was of high signal intensity on The motions are centered around the shoul T2-weighted images (Figs 1A-E). Positive der and hip joints and have a forceful, flinging serum human immunodeficiency virus anti quality. Usually either the arm or the leg is gen and antibody titers were found, with predominantly involved. Although at least mildly elevated cerebrospinal fluid toxo some volitional control over the affected plasma titers. Anti-toxoplasmosis treatment limbs is still maintained, the involuntary with sulfadiazine and pyrimethamine was be movements typically can be checked by the gun, with resolution of the hemiballistic patient for only a few moments ( 1). The movements within a few weeks and decrease movements are usually continuous but may in size of the lesion. -
Clinical Challenge (Pdf 204KB)
EDUCATION CLINICALCHALLenGE Questions for this month’s clinical challenge are based on articles in this issue. The style and scope of questions is in keeping with the MCQ of the College Fellowship exam. The quiz is endorsed by the RACGP Quality Assurance and Continuing Professional Development Program and has been allocated 4 CPD points per issue. Answers to this clinical challenge will be published next month, and are available immediately following successful completion online at www.racgp.org.au/clinicalchallenge. Check clinical challenge online for this month's completion date. Rachel Lee DIRECTIONS Each of the questions or incomplete statements below is followed by five suggested answers or completions. Select the most appropriate statement as your answer. Case 1 – Phillip Block Case 2 – the Babic family Phillip Block, 19 years of age, is a football player who presents The Babic family come to see you as they all have persistent sore embarrassed about his sweaty, smelly feet. feet. Question 1 Question 5 You consider a diagnosis of primary palmoplantar Elena, 11 years of age, has heel pain exacerbated by activity. hyperhidrosis. Which of the following statements is a common Select the best statement about her pain: diagnostic criteria: A. calcaneal traction apophysitis is likely and should soon A. asymmetrical presentation – dominant side usually more resolve with apophysial closure affected B. the possibility of osteochrondrosis can be confidently B. persistence of sweating even during sleep excluded by plain X-ray C. persistence of sweating beyond 6 months C. an ‘accessory navicular’ is unlikely as this is typically worse D. onset typically after the age of 25 years at rest E. -
Hunting Down a Case of Progressive Movement Disorder, Dementia, and Genetic Anticipation – a Case Report on Huntington’S Disease
Madhavi et al (2020): r A case report of Huntington’s disease Nov 2020 Vol. 23 Issue 21 HUNTING DOWN A CASE OF PROGRESSIVE MOVEMENT DISORDER, DEMENTIA, AND GENETIC ANTICIPATION – A CASE REPORT ON HUNTINGTON’S DISEASE 1*Dr. K.Vani Madhavi, 2Dr. Anand Acharya, 3Dr Vijaya Vishnu 1,3Department of SPM, 2Department of Pharmacology , 1,2,3Konaseema Institute of medical Sciences Research Foundation, Amalapuram, Andhra Pradesh, India *corresponding author: 1Dr. K.Vani Madhavi E-Mail: [email protected] Abstract The Huntington Disease HD is a progressive, fatal, highly penetrant autosomal dominant disease considered by involuntary choreiform movements. A developing number of reformists generative conditions mirror the introduction of Huntington's ailment (HD). Separating between these HD-like conditions is vital once a patient by blend of development problems, psychological decrease, social irregularities and infection course demonstrates negative to the hereditary testing for HD causative transformations, that is, IT15 quality trinucleotide-rehash extension. The disparity finding of HD-like conditions is intricate and might prompt superfluous and exorbitant examinations. We suggest guidelines for this differential determination zeroing in on a predetermined number of clinical highlights ('warnings') that can be distinguished over precise clinical assessment, assortment of recorded information and a couple of routine auxiliary examinations. Present highlights incorporate the traditional foundation of the patient, the contribution of the facio-bucco-lingual and cervical region with development problem, the co-event of cerebellar highlights and seizures, the occurrence of exceptional stride examples and eye development irregularities, and an atypical movement of ailment. Extra assistance may get from the intellectual social introduction of the patient, just as by a limited amount of subordinate examinations, chiefly MRI and routine blood tests. -
Essential Tremor Patient Handbook
Essential Tremor Patient Handbook Your reference guide for the most common movement disorder. What is essential tremor? Essential tremor (ET) is one of the most common neurological conditions and the most common cause of tremor. Tremor is an involuntary, rhyth- mic shaking of any part of the body. The hands are most commonly affected in ET, but the head, voice, legs, and trunk can also be affected. The term essential, when used in a medical context, refers to a symptom that is isolated and does not have a specific underlying cause. Thus, ET refers to a disorder that displays the primary symptom of tremor, with no known cause. The tremor of ET is an action tremor and most commonly occurs while performing activities such as eating, drinking, writing, typing, brushing teeth, shaving, etc. (kinetic tremor) or when the hands are in an outstretched position (postural tremor). ET can therefore make it difficult to complete ev- eryday tasks and can lead to significant disability. Some patients may present with a combination of tremors affecting different body parts. The sever- ity of the tremor can vary from a barely notice- able tremor only present in situations of stress or anxiety, to severe tremor that has a significant impact on activities of daily living. Tremor severity can vary based on the activity being performed, the position of the body part, and the presence of stress or fatigue. The tremor may worsen over time and may spread to parts of the body not pre- viously affected. Who develops ET? ET is estimated to affect up to 10 million people in the United States and many more worldwide. -
Clinical Manifestations of Essential Tremor
Journial of Neurology, Neurosurgery, and Psychiatry, 1972, 35, 365-372 J Neurol Neurosurg Psychiatry: first published as 10.1136/jnnp.35.3.365 on 1 June 1972. Downloaded from Clinical manifestations of essential tremor EDMUND CRITCHLEY From the Royal Infirmary, Preston SUMMARY A clinical study of 42 patients with essential tremor is presented. In the case of 12 patients the family history strongly suggested an autosomal dominant mode of transmission, in four the mode of inheritance was indeterminate, and the remaining 26 patients were sporadic cases without an established genetic basis. The tremor involved the upper extremities in 41 patients, the head in 25, lower limbs in 15, and trunk in two. Seven patients showed involvement of speech. Variations were found in the speed and regularity of the tremor. Leg involvement took a variety of forms: (1) direct involvement by tremor; (2) a painful limp associated with forearm tremor; (3) associated dyskinetic movements; (4) ataxia; (5) foot clubbing; and (6) evidence of peroneal muscular atrophy. Several minor symptoms hyperhidrosis, cramps, dyskinetic movements, and ataxia-were associated with essential tremor. Other features were linked phenotypically to the ataxias and system degenerations. Apart from minor alterations in tone, expression, and arm swing, features of Parkinsonism were notably absent. Protected by copyright. Essential tremor has been recognized as an or- much variation. It is occasionally present at rest ganic peculiarity of the nervous system, mimick- and inhibited by action, but is more usually de- ing neurotic and neural disorders with equal creased or absent at rest and present on volun- facility. Many synonyms-for example, benign, tary increase in muscle tonus, as in holding a limb hereditary, and senile tremor-describe its varied in a definite position (static, sustained-postural presentation. -
Tremor in X-Linked Recessive Spinal and Bulbar Muscular Atrophy (Kennedy’S Disease)
CLINICS 2011;66(6):955-957 DOI:10.1590/S1807-59322011000600006 CLINICAL SCIENCE Tremor in X-linked recessive spinal and bulbar muscular atrophy (Kennedy’s disease) Francisco A. Dias,I Renato P. Munhoz,I Salmo Raskin,II Lineu Ce´sar Werneck,I He´lio A. G. TeiveI I Movement Disorders Unit, Neurology Service, Internal Medicine Department, Hospital de Clı´nicas, Federal University of Parana´ , Curitiba, PR, Brazil. II Genetika Laboratory, Curitiba, PR, Brazil. OBJECTIVE: To study tremor in patients with X-linked recessive spinobulbar muscular atrophy or Kennedy’s disease. METHODS: Ten patients (from 7 families) with a genetic diagnosis of Kennedy’s disease were screened for the presence of tremor using a standardized clinical protocol and followed up at a neurology outpatient clinic. All index patients were genotyped and showed an expanded allele in the androgen receptor gene. RESULTS: Mean patient age was 37.6 years and mean number of CAG repeats 47 (44-53). Tremor was present in 8 (80%) patients and was predominantly postural hand tremor. Alcohol responsiveness was detected in 7 (88%) patients with tremor, who all responded well to treatment with a b-blocker (propranolol). CONCLUSION: Tremor is a common feature in patients with Kennedy’s disease and has characteristics similar to those of essential tremor. KEYWORDS: Kennedy’s disease; X-linked recessive bulbospinal neuronopathy; Spinal and bulbar muscular atrophy; Motor neuron disease; Tremor. Dias FA, Munhoz RP, Raskin S, Werneck LC, Teive HAG. Tremor in X-linked recessive spinal and bulbar muscular atrophy (Kennedy’s disease). Clinics. 2011;66(6):955-957. Received for publication on December 24, 2010; First review completed on January 18, 2011; Accepted for publication on February 25, 2011 E-mail: [email protected] Tel.: 55 41 3019-5060 INTRODUCTION compatible with a long life. -
Differential Changes in Arteriolar Cerebral Blood Volume Between Parkinson's Disease Patients with Normal and Impaired Cogniti
RESEARCH ARTICLE Differential Changes in Arteriolar Cerebral Blood Volume between Parkinson’s Disease Patients with Normal and Impaired Cognition and Mild Cognitive Impairment (MCI) Patients without Movement Disorder – An Exploratory Study Adrian G. Paez1,2, Chunming Gu1,2,3, Suraj Rajan4,5, Xinyuan Miao1,2, Di Cao1,2,3, Vidyulata Kamath5, Arnold Bakker5, Paul G. Unschuld6, Alexander Y. Pantelyat4, Liana S. Rosenthal4, and Jun Hua1,2 1F.M. Kirby Research Center for Functional Brain Imaging, Kennedy Krieger Institute, Baltimore, MD; 2Neurosection, Division of MR Research, Department of Radiology, 3Department of Biomedical Engineering; 4Department of Neurology; and 5Department of Psychiatry and Behavioral Sciences, Johns Hopkins University School of Medicine, Baltimore, MD; and 6Department of Psychogeriatric Medicine, Psychiatric University Hospital Zurich, Zurich, Switzerland Corresponding Author: Key Words: Dementia, blood vessel, perfusion, iVASO, MRI Jun Hua, PhD Abbreviations: Parkinson’s disease (PD), mild cognitive impairment (MCI), arteriolar Department of Radiology, Johns Hopkins University School of Medicine, cerebral blood volume (CBVa), PD dementia (PDD), cerebral blood flow (CBF), F.M. Kirby Research Center for Functional Brain Imaging, Kennedy presupplementary motor area (preSMA), inflow-based vascular-space-occupancy Krieger Institute, 707 N Broadway, Baltimore, MD, 21205, (iVASO), gray matter (GM), time of repetition (TR), time of inversion (TI), statistical E-mail: [email protected] parametric mapping (SPM), signal-to-noise ratio (SNR), magnetic resonance imaging (MRI), Unified Parkinson’s Disease Rating Scale (UPRDS) Cognitive impairment amongst Parkinson’s disease (PD) patients is highly prevalent and associated with an increased risk of dementia. There is growing evidence that altered cerebrovascular functions contribute to cognitive impairment. -
Part Ii – Neurological Disorders
Part ii – Neurological Disorders CHAPTER 14 MOVEMENT DISORDERS AND MOTOR NEURONE DISEASE Dr William P. Howlett 2012 Kilimanjaro Christian Medical Centre, Moshi, Kilimanjaro, Tanzania BRIC 2012 University of Bergen PO Box 7800 NO-5020 Bergen Norway NEUROLOGY IN AFRICA William Howlett Illustrations: Ellinor Moldeklev Hoff, Department of Photos and Drawings, UiB Cover: Tor Vegard Tobiassen Layout: Christian Bakke, Division of Communication, University of Bergen E JØM RKE IL T M 2 Printed by Bodoni, Bergen, Norway 4 9 1 9 6 Trykksak Copyright © 2012 William Howlett NEUROLOGY IN AFRICA is freely available to download at Bergen Open Research Archive (https://bora.uib.no) www.uib.no/cih/en/resources/neurology-in-africa ISBN 978-82-7453-085-0 Notice/Disclaimer This publication is intended to give accurate information with regard to the subject matter covered. However medical knowledge is constantly changing and information may alter. It is the responsibility of the practitioner to determine the best treatment for the patient and readers are therefore obliged to check and verify information contained within the book. This recommendation is most important with regard to drugs used, their dose, route and duration of administration, indications and contraindications and side effects. The author and the publisher waive any and all liability for damages, injury or death to persons or property incurred, directly or indirectly by this publication. CONTENTS MOVEMENT DISORDERS AND MOTOR NEURONE DISEASE 329 PARKINSON’S DISEASE (PD) � � � � � � � � � � � -
Parkinson's Disease, Dystonia, Tremor and Deep Brain Stimulation
Backgrounder: Deep Brain Stimulation: A well-proven therapy for treating movement disorders such as Parkinson’s disease, dystonia, and essential tremor1 Parkinson’s disease, dystonia, and essential tremor represent a substantial and growing global burden1 Parkinson’s disease (PD) is a chronic progressive neurological disorder which affects 6.3 million people worldwide.1 In Europe, 1.2 million people are affected by Parkinson’s.2 Parkinson’s disease is caused by a shortage of dopamine producing cells, a substance that is used in the brain to transmit signals.3 Chief symptoms are motor difficulties such as tremor, rigidity, bradykinesia (slowness in movement), and postural instability.4 Given the higher incidence of Parkinson’s disease in those aged 65 or older, the prevalence of Parkinson’s disease is expected to increase as the population ages.5 Dystonia is a neurological movement disorder characterised by sustained muscle contractions causing twisting and repetitive movements or abnormal postures. The exact cause of dystonia is not fully understood. However, it is believed that the portion of the brain called the basal ganglia, which controls movement, is not functioning properly or has been damaged.6 Dystonia can affect a specific area of the body or be more widespread throughout several muscle groups. These muscle contractions can be painful and interfere with day-to-day activities. Dystonia affects more than 500,000 people across Europe, including men, women, and children of all ages and backgrounds.7 Dystonia is chronic but the vast majority of dystonias do not affect other functions of the brain. It is the third most common movement disorder, after Parkinson’s disease and essential tremor.8 Essential tremor (ET) is one of the most common tremor disorders and is characterised by a postural and/or kinetic tremor.