Clinical Autonomic Disorders

808 Pages·2008·15.641 MB·English

by  Phillip A. Low MD, Eduardo E. Benarroch

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T H I R D E D I T I O N
CLINICAL AUTONOMIC
DISORDERS
EDITORS
Phillip A. Low, MD, FRACP, FRCP (Hon)
Professor
Department of Neurology
Mayo Clinic
Rochester, Minnesota
Eduardo E. Benarroch, MD, DSc
Professor
Department of Neurology
Mayo Clinic
Rochester, Minnesota
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Cover:Alpha-synuclein positive (dark brown) glial cytoplasmic inclusions from a
54 year old man with multiple system atrophy. (Figure prepared by Ann Schmeichel.)
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Printed in the United States of America
First Edition, © 1997 by Mayo Foundation, Rochester (Lippincott–Raven);
Second Edition, © 1992 by Mayo Foundation, Rochester (Little, Brown)
Library of Congress Cataloging-in-Publication Data
Clinical autonomic disorders / editors, Phillip A. Low, Eduardo E. Benarroch.—3rd ed.
p. ; cm.
Includes bibliographical references and index.
ISBN-13: 978-0-7817-7381-2
ISBN-10: 0-7817-7381-4
1. Autonomic nervous system–Diseases–Treatment. 2. Autonomic nervous system—
Diseases—Diagnosis. I. Low, Phillip A. II. Benarroch, Eduardo E.
[DNLM: 1. Autonomic Nervous System Diseases—diagnosis. 2. Autonomic
Nervous System Diseases—therapy 3. Autonomic Nervous System—physiopathology.
WL 600 C6409 2009]
RC407.C56 2009
616.8'569–dc22
2008014959
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P R E FA C E T O T H E T H I R D E D I T I O N
Since the last edition of this book, major advances have Another area of considerable interest and activity
occurred in the understanding, evaluation, and manage- consists in the autoimmune autonomic neuropathies.
ment of autonomic disorders. These have included Improved understanding of pathogenesis and recognition
insights into autonomic disorders previously consid- of a fuller spectrum of phenotypes and management are
ered simply as “neurodegenerative” disorders of brain featured in this new edition. Important advances have
and spinal cord, the autoimmune basis of autonomic also occurred in understanding the genetic and molecular
neuropathies, molecular mechanisms of autonomic dis- basis of autonomic disorders such as familial dysautono-
orders, and widespread availability of clinical auto- mia,dopamine β-hydroxylase deficiency, and norepineph-
nomic laboratories. To meet these challenges and rine transporter deficiency, as discussed in this new edition.
opportunities, the third edition of Clinical Autonomic Since the last edition, there has been a large increase
Disorders has been reorganized and completely revised. in the number of clinical autonomic laboratories in the
Topping the changes is the addition of Dr. Eduardo United States and around the world. In part, this is due
Benarroch as joint editor. Dr. Benarroch is a close colleague to the availability of laboratory equipment and stan-
and friend who provides unique research and clinical dardized testing. To provide leadership in this area, we
expertise on a range of central nervous system disorders, have greatly revised coverage of laboratory evaluation
especially the synucleinopathies (such as multiple system with a section on Laboratory Evaluation and we provide
atrophy, Parkinson disease, and Lewy body dementia). a full normative dataset.
His editorial leadership expands the scope of the book We have tried very hard to generate a book that is
and improves its quality in a number of areas, including intensively autonomic but reaching all areas of autonomic
chapters on sleep and hypothalamic disorders. interest. Certain disorders that may have previously been
This new edition provides cutting-edge coverage espe- underemphasized, such as migraine, pheochromocytoma,
cially of the autonomic aspects of the synucleinopathies, carcinoid, and mastocytosis, are given more coverage in
where abnormal processing of α-synuclein results in its the revised edition.
deposition in key autonomic areas of the central and Although these changes are exciting and extensive,
peripheral nervous systems. There is increasing evidence they were all done within the framework of the primary
that specific involvement of the autonomic nervous system goals of the original book. The book is aimed primarily
is different for the different entities. For instance, the lesion at the practicing clinician and clinical neurophysiolo-
is postganglionic in Parkinson disease and Lewy body gist. The focus remains to provide, in a single volume, a
dementia, whereas it is preganglionic in multiple system comprehensive, digestible coverage of all key human
atrophy. Tests of autonomic function, including SPECT autonomic disorders, their laboratory evaluation, and
and PET scanning of the heart for adrenergic markers and management.
sudomotor testing, offer promise to distinguish multiple
system atrophy from these other synucleinopathies. Sleep Phillip A. Low
disorders are a critical manifestation of these disorders, Eduardo E. Benarroch
particularly multiple system atrophy, and are comprehen-
sivelycovered in this new edition.
iii
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P R E FA C E T O T H E F I R S T E D I T I O N
There are a number of excellent books on specific would say a nihilist) of current concepts and who ques-
aspects of autonomic function, the majority covering tions all the standard dogma. This chapter is balanced
the areas of expertise of the editor. Clinical Autonomic by a more practical chapter that incorporates standard
Disorders is an attempt, in a single volume, to compre- and recent ideas on the management of sympathetically
hensively cover all key human autonomic disorders and maintained pain.
to incorporate the recent advances of noninvasive labo- Another area of focus is on management of autonomic
ratoryevaluation of autonomic function and management failure and dysfunction, a requirement that spans the
of human autonomic disorders. bedside and the laboratory and integrates that informa-
In the past decade and a half, we have witnessed tion with the cutting edge of management options.
rapid developments in laboratory evaluation, insights A major cause of autonomic failure and dysfunction is
into pathophysiologic mechanisms, and advances in the autonomic neuropathies. In my opinion, no current
the treatment of clinical autonomic disorders. Several text does this subject justice, especially on the evaluation
disparate areas have developed from this growth. One aspects. My interest in the neuropathies is the focus of
area is the noninvasive evaluation of autonomic func- this volume, with detailed coverage on the evaluation and
tion, which has developed in a wide variety of disci- management of the autonomic neuropathies.
plines, including an extension of the electromyography, The development of autonomic evaluation and man-
electroencephalography, sleep disorder, psychology, agement has occurred coincidentally in North America
peripheral nerve research, and cardiovascular laborato- and Europe and in several other countries. A North
ries. A second area is the quantitation of autonomic American emphasis was deliberately chosen. Medications
function. A third is the management, including treat- cited follow generic proprietary names used in North
ment trials, of autonomic failure. A fourth is the study of America. Drugs that are experimental or are not available
basic mechanisms of autonomic dysfunction in experi- in the United States are clearly stated as such.
mental animals and in humans. This book is aimed primarily at the practicing neu-
This rapid growth has left major gaps among these rologist and the clinical neurophysiologist (i.e., EMG, EEG,
areas. This book attempts to integrate some of these evoked potential, autonomic, and sleep laboratories and
apparently disparate areas and to provide both a clinical psychologists). It should also appeal to diverse
human and clinical perspective. One set of aims of Clini- internists, including the diabetologist, cardiologist, and
cal Autonomic Disordersis to critically evaluate current general practitioner, as well as medical students and
noninvasive tests of autonomic function, to integrate the laboratory personnel.
simple tests with their basic underlying mechanisms, to The organization of this book is designed so that the
define the values and limitations of such tests, and to enormous amount of information is assimilable. The
bring together, in a single volume, the large number of underlying scientific basis is provided in the early chap-
autonomic tests that are available. Apart from a critical ters, followed by the evaluation, and, finally, by the
evaluation of laboratory tests, a special attempt is made management of autonomic disorders. At the beginning
to integratethe bedside evaluation with the laboratory. of each chapter, the key points are summarized.
In keeping with our clinical orientation, basic mech- This book is the culmination of many years of work
anisms are emphasized, but always with a human per- on the autonomic nervous system in Sydney, Australia,
spective. Many of the mechanisms of autonomic function and at the Mayo Clinic, Rochester, Minnesota. Jim McLeod
based on animal experiments have been uncritically provided me with encouragement and ideas in my early
applied to humans, and these have often been found to days in Sydney. It is my privilege to have included him as
be incorrect. The authors have been carefully chosen so coauthor of the chapter on the autonomic neuropathies.
thatall contributors not only are leaders in their respec- Peter Dyck has been an important mentor at Mayo and
tive fields but are also mainly clinicians. more than anyone else is responsible for my joining the
There are some areas of considerable controversy. staff of Mayo. I also wish to acknowledge the support
In such situations, I have attempted to provide a bal- and friendship of Jack Whisnant, who, as Chairman of
ance. Reflex sympathetic dystrophy is such an area. I Neurology, had the wisdom to support my founding of
have included one expert who is highly critical (some the Mayo Autonomic Laboratory in 1982, when it was
iv
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PREFACE TO THE FIRST EDITION v
still an idea. Since then the exponential growth of the Kihara, Ron Schondorf, and Guillermo Suarez. The
laboratory has seen the number of tests performed research assistance of Toni Opfer Gehrking has been
increase to more than 2800 in 1991. outstanding, as has been that of Jim Schmelzer, Kim
The continuing interactions with outstanding young Nickander, Paula Zollman, and Nora Tones. I also wish
men and women have generated many of the ideas and to acknowledge the support of Carolene Neumann and
experiments that have taken place in my autonomic and Carol Proper. Finally, this book would have floundered
neurophysiology laboratories. These people include without the outstanding secretarial support, including
Roger Tuck, Timothy Day, Douglas Zochodne, Philip literature research, of Anita Payne.
McManis, Megumi Takeuchi, Jeffrey Cohen, Eduardo
Benarroch, Paola Sandroni, Catherine Wiliner, Mikihiro P. A. L.
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The Editors wish to dedicate this book
to their families and patients.
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C O N T R I B U T O R S
John L.D. Atkinson, MD Consultant in Gastroenterology Roger A.L. Dampney, DSc, PhD
Professor of Neurosurgery Mayo Clinic Professor of Physiology
Department of Neurosurgery Rochester, Minnesota School of Medical Sciences
Mayo Clinic and Bosch Institute
Nisha Charkoudian, PhD
Hospital Consultant The University of Sydney
Mayo Clinic Associate Professor of Physiology Sydney, NSW, Australia
Rochester, Minnesota Department of Physiology
and Biomedical Engineering Mark D.P. Davis, MD
Felicia. B. Axelrod, MD Mayo Clinic Professor
Carl Seaman Family Professor Rochester, Minnesota Department of Dermatology
for Dysautonomia Treatment Mayo Clinic College of Medicine
and Research, Pediatrics William P. Cheshire, Jr., MD Consultant
Professor, Neurology Associate Professor Department of Dermatology
New York University, Department of Neurology Mayo Clinic
New York, New York Mayo Clinic College of Medicine Rochester, Minnesota
Jacksonville, Florida
Eduardo E. Benarroch, MD P. James B. Dyck, MD
Professor Dominic C. Chow, MD, MPH Associate Professor
Department of Neurology Associate Professor Department of Neurology
Mayo Clinic Departments of Medicine Mayo Clinic
Rochester, Minnesota and Pediatrics Rochester, Minnesota
University of Hawaii
Lisa M. Benrud-Larson, PhD Honolulu, Hawaii Peter J. Dyck, MD
Assistant Professor Firm Director Professor
Department of Neurology Family Health Department of Neurology
Mayo Clinic College of Medicine Queen Emma Clinics Mayo Clinic
Rochester, Minnesota Queens Medical Center Rochester, Minnesota
Honolulu, Hawaii
Italo Biaggioni, MD Graeme Eisenhofer, PhD
Professor of Medicine Han Collewijn, MD, PhD Chief, Division of Clinical
and Pharmacology Emeritus Professor of Physiology Neurochemistry
Associate Director, Clinical Department of Neuroscience Institute of Clinical Chemistry
Research Center Erasmus University Medical & Laboratory Medicine and
Division of Clinical Center Department of Internal Medicine III
Pharmacology Rotterdam, The Netherlands University Hospital Carl Gustav
Vanderbilt University Carus Dresden
Nashville, Tennessee Pietro Cortelli Dresden, Germany
Professor of Neurology
Paul W. Brazis, MD Department of Neurological Science Gianrico Farrugia, MD
Consultant in Neurology University of Bologna Professor of Medicine
and Neuro-ophthalmology Bologna, Italy and Physiology
Professor of Neurology Department of Internal Medicine
Ophthalmology and Neurology Michael F. Cutrer, MD Mayo Clinic
Mayo Clinic—Jacksonville Associate Professor Consultant, Division of
Jacksonville, Florida Department of Neurology Gastroenterology & Hepatology,
Mayo Clinic College of Medicine and Internal Medicine
Michael Camilleri, MD Chair, Division of Headache Consultant, Physiology
Professor of Medicine Department of Neurology Department of Internal Medicine
and Physiology Mayo Clinic Mayo Clinic
Mayo Clinic College of Medicine Rochester, Minnesota Rochester, Minnesota
vii
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viii CONTRIBUTORS
Robert D. Fealey, MD University of Groningen, University The University of Iowa Hospitals
Assistant Professor Medical Center and Clinics
Department of Neurology Groningen, The Netherlands Iowa City, Iowa
Mayo Clinic College of Medicine
Michael J. Joyner, MD David R. Linden, PhD
Consultant
Department of Neurology Professor Assistant Professor of Physiology
Mayo Clinic Department of Anesthesiology Mayo Clinic School of Medicine
Rochester, Minnesota Mayo Clinic Rochester, Minnesota
Rochester, Minnesota
Roy L. Freeman, MD Axel Lipp, MD
Professor of Neurology Horacio C. Kaufmann Research Fellow
Harvard Medical School F.B. Axelrod Professor Department of Neurology,
Director, Center for Autonomic of Neurology Autonomic Disorder Center
and Peripheral Nerve Professor of Medicine Mayo Clinic
Disorders and Pediatrics Rochester, Minnesota
Beth Israel Deaconess Medical New York University School
Center of Medicine Lewis A. Lipsitz, MD
Boston, Massachusetts Director, Dysautonomia Center Vice President of Academic Medicine
Department of Neurology Department of Medicine
Emily M. Garland, PhD New York University Hebrew Senior Life
Assistant Professor Medical Center Chief of Gerontology
Department of Medicine New York, New York Division of Gerontology
Vanderbilt University Medical Beth Israel Deaconess
Center William R. Kennedy, MD Medical Center
Nashville, Tennessee Professor Boston, Massachusetts
Department of Neurology
Van Anh T. Ginger, MD, PhD University of Minnesota William J. Litchy, MD
Resident Minneapolis, Minnesota Consultant in Neurology
Department of Urology Department of Neurology
University of Washington Christopher J. Klein, MD Mayo Clinic
Seattle, Washington Department of Neurology, Section Rochester, Minnesota
of Peripheral Nerve
David S. Goldstein, MD, PhD Mayo Clinic College of Medicine Phillip A. Low, MD
Chief, Clinical Neurocardiology Rochester, Minnesota Professor
Section Department of Neurology
Clinical Neurosciences Program, Andrei V. Krassioukov, MD, PhD Mayo Clinic
Division of Intramural Research Associate Professor Rochester, Minnesota
National Institute of Neurological Department of Physical Medicine
Disorders and Stroke, NIH and Rehabilitation David P. Martin, MD, PhD
Attending Physician University of British Colombia Assistant Professor
NIH Clinical Center Vancouver, BC, Canada Department of Anesthesiology
Mayo Clinic College of Medicine
Bethesda, Maryland
Nancy L. Kuntz, MD Consultant
Andrew Grandinetti, PhD Assistant Professor Department of Anesthesiology
Associate Professor Departments of Neurology Mayo Clinic
Departments of Public Health and Pediatrics Rochester, Minnesota
Sciences and Epidemiology Mayo Clinic College of Medicine
University of Hawaii at Manoa Consultant in Child and Adolescent Michelle L. Mauermann, MD
Honolulu, Hawaii Neurology Department of Neurology, Section
Departments of Neurology of Peripheral Nerve Mayo Clinic
Max J. Hilz, MD and Pediatrics College of Medicine
Department of Neurology Mayo Clinic Rochester, Minnesota
University of Erlangen Nuremberg Rochester, Minnesota
Erlangen, Germany Pasquale Montagna
Andrew G. Lee, MD Professor of Neurology
Gert Holstege, MD, PhD Professor Department of Neurological Science
Professor and Chairman Department of Ophthalmology University of Bologna
Center for Uroneurology and Visual Sciences Bologna, Italy
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CONTRIBUTORS ix
Vera Novak, MD, PhD Anette Schrag, MD, PhD University of Amsterdam
Associate Professor of Medicine Senior Lecturer Amsterdam, The Netherlands
Department of Medicine Honorary Consultant Neurologist
Harvard Medical School University Department of Clinical Steven Vernino, MD, PhD
Director, Syncope and Falls Neurosciences Associate Professor
in the Elderly Program Royal Free and University College Department of Neurology
Division of Gerontology Medical School University of Texas Southwestern
Beth Israel Deaconess Medical London, England Medical Center
Center Dallas, Texas
Boston, Massachusetts Drahomira Sencakova, MD
Department of Neurology
Nestor A. Wainsztein, MD,
Federica Provini, MD Mayo Clinic
FCCP, FCCM, FAHA
Department of Neurological Rochester, Minnesota
Chief
Sciences
Intensive Care
University of Bologna Medical Win-Kuang Shen, MD
FLENI
School Professor of Medicine
Buenos Aires, Argentina
Bologna, Italy Department of Cardiovascular
Diseases and Internal Medicine
Alejandro A. Rabinstein, MD Mayo Clinic College of Medicine B. Gunnar Wallin
Associate Professor Consultant Institute of Neuroscience
Department of Neurology Department of Cardiovascular and Physiology
Mayo Clinic College Diseases and Internal Medicine The Sahlgrenska Academy
of Medicine Mayo Clinic at Göteborg University
Rochester, Minnesota Rochester, Minnesota Göteborg, Sweden
David Robertson, MD Wolfgang Singer, MD Gwen Wendelschafer-Crabb, MS
Elton Yates Professor of Medicine, Senior Resident Senior Scientist
Pharmacology and Neurology Department of Neurology Department of Neurology
Director, General Clinical Mayo Clinic University of Minnesota
Research Center Rochester, Minnesota Minneapolis, Minnesota
Department of Medicine/
Pharmacology/Neurology David M. Sletten, BA
Wouter Wieling, MD
Vanderbilt University Medical Department of Neurology
Department of Internal
Center Mayo Clinic
Medicine F4
Nashville, Tennessee Rochester, Minnesota
Academic Medical Centre
Meibergdreef 9 1105 AZ
Paola Sandroni, MD, PhD Judith M. Spies, MBBS, PhD,
Amsterdam
Associate Professor FRACP
The Netherlands
Department of Neurology Senior Lecturer
Mayo Clinic College Department of Medicine
Robert H. Wood, PhD
of Medicine University of Sydney
Associate Professor
Consultant Sydney, NSW, Australia
Department of Physical
Department of Neurology Staff Specialist
Therapy
Mayo Clinic Department of Neurology
Husson College
Rochester, Minnesota Royal Prince Alfred Hospital
Bangor, Maine
Camperdown, NSW, Australia
Ronald Schondorf, PhD, MD
Associate Professor Johannes J. van Lieshout, MD, PhD Claire C. Yang, MD
Department of Neurology Director, Medium Care Unit Associate Professor
McGill University Department of Internal Medicine, Department of Urology
Montreal, QC Canada Human Cardiovascular University of Washington
Director, Department of Clinical Physiology Unit Seattle, Washington
Neurophysiology AMC Center for Heart Failure Staff Physician
SMBD Jewish General Hospital Research Academic Medical VA Puget Sound Health Care System
Montreal, QC Canada Center Seattle, Washington
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C O N T E N T S
Preface to the 3rd Edition iii CHAPTER 9 Neural Control
of Blood Vessels 106
Preface to the 1st Edition iv
EDUARDO E. BENARROCH
Dedication vi
AND AXEL LIPP
Contributors vii
SECTION I: THE SCIENTIFIC BASIS SECTION II: EVALUATION AND
MANAGEMENT OF AUTONOMIC
CHAPTER 1 Clinical Autonomic Disorders: DISORDERS
Classification and Clinical
Evaluation 1 PART A. LABORATORY EVALUATION
PHILLIP A. LOW, PAOLA SANDRONI,
AND EDUARDO E. BENARROCH CHAPTER 10 Clinical Evaluation of the Patient
with an Autonomic Disorder 112
CHAPTER 2 Central Autonomic Network 17 WILLIAM P. CHESHIRE, JR.,
EDUARDO E. BENARROCH AND NANCY L. KUNTZ
CHAPTER 3 Peripheral Autonomic System: CHAPTER 11 Laboratory Evaluation
Anatomy, Biochemistry, of Autonomic Failure 130
and Physiology 29
PHILLIP A. LOW AND DAVID M. SLETTEN
EDUARDO E. BENARROCH
CHAPTER 12 Aging and Autonomic
CHAPTER4 Cardiovascular and Respiratory Function 164
Reflexes: Physiology
LEWIS A. LIPSITZ AND VERA NOVAK
and Pharmacology 43
ROGER A. L. DAMPNEY CHAPTER 13 Quality of Life in Persons
with Autonomic Disorders 179
CHAPTER 5 Maintenance of Postural LISA M. BENRUD-LARSON
Normotension in Humans 57
AND ANETTE SCHRAG
WOUTER WIELING AND JOHANNES J.
VAN LIESHOUT CHAPTER 14 Noninvasive Evaluation of Heart
Rate: Time and Frequency
CHAPTER 6 Autonomic Regulation Domains 185
of Temperature and Sweating 68
ROY L. FREEMAN
EDUARDO E. BENARROCH, PHILLIP A. LOW,
AND ROBERT D. FEALEY CHAPTER 15 Transcranial Doppler Evaluation
in Autonomic Disorders 198
CHAPTER 7 Central Nervous System Control WOLFGANG SINGER, PHILLIP A. LOW,
of Micturition 74
AND RONALD SCHONDORF
GERT HOLSTEGE AND HAN COLLEWIJN
CHAPTER 16 Microneurographic Evaluation
CHAPTER 8 Autonomic Control of Sympathetic Neural Function
of Gastrointestinal Function 88 and Dysfunction 219
DAVID R. LINDEN NISHA CHARKOUDIAN
AND GIANRICO FARRUGIA AND B. GUNNAR WALLIN
x