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Amyotrophic lateral sclerosis (ALS), a slowly progressive disease
of variable presentation and rate of progress, has come into the
limelight after a century of neglect. Recently, the pace of
research has rapidly accelerated, stemming from several parallel
lines of research: epidemiology and genetics, neurotrophic factors,
excitotoxicity and its integral relation to energy metabolism, free
radical homeostasis and its relation to apoptotic cell death,
calcium metabolism and cytoskeletal proteins within the motor
neuron. Moreover, striking advances in technology for biomedical
research are also contributing. From these investigations,
reclassification of ALS and motor neuron diseases syndromes is
beginning. The introduction of an anti-excitotoxic drug, with an
effect in slowing progression of the disease, has made the process
of diagnosis and clinical management more important. All these
factors have led to a surge in interest and understanding regarding
therapy, the maintenance of quality of life in the disease and the
ethical issues surrounding the progression of this disease. This
book will be of great interest to clinical neurologists and
trainees, and to all those concerned in the care of people with
ALS.
Nine years have elapsed since the second edition of this book was
published. In this time the principal advances in neuromuscular
diseases have been in the application of molecular genetics to
understanding the aetiology and pathogenesis of this group of
disorders. As a result many previously unrecognised disorders have
been charac terised. Some clinical syndromes, such as the limb
girdle dystrophies, have become better defined. In many such
instances the new genetic information has led to major advances in
knowledge of the biology of cell structures, for example, the
membrane structural and channel proteins. The clinical syndromes
themselves, and their patho logical and electrophysiological
characteristics, however, remain as important as ever, since they
constitute the clinical problem itself and, indeed, the database
from which all other concepts emerge. Knowledge of the
pathogenesis, genetics, and molecular biology of neuromuscular
disorders is essential both in developing and applying new
therapies and preventive measures, and in formulating genetic and
prognostic advice. However, this informa tion does not necessarily
always define clinically useful syndromes. Myotonia, for example,
is an electrophysiological finding in some syndromes in which it is
un detectable by clinical examination, although the phenomenon
itself was originally defined as a clinical entity. The limb girdle
muscular dystrophy syndromes can be defined by severity,
distribution of weakness, age of onset, sex distribution and other
characteristics and many of these can be better understood by study
of the under lying defect in cell structural proteins.
Hughlings Jackson, the noted English neurologist, fathered many
ideas that today still underlie our understanding of common
clinical phenomena. This is a reappraisal of Jackson's work, both
within its historical framework and in light of modern concepts of
neurology. The approach is new, combining historical, clinical and
basic scientific information in one synthesis on the organization
and function of the nervous system. The concept of levels of
function is addressed, specifically with regard to areas of brain
function; and the hierarchical strategy is considered as part of
the current concept of a distributed system of neurons. Clinicians
and scientists alike will find much food for thought in this modern
treatise of Jacksonian concepts.
Natural history and treatment outcome of disease are of critical
importance to patients, clinicians and health care providers across
the full range of medical disciplines. In many specialties, such as
neurology and neurosurgery, this sort of information can be hard to
obtain in the absence of extensive outcome studies and agreed
measures of outcome in different conditions. This volume seeks to
help inform about effective care and rehabilitation by providing a
succinct review of whatever data is available for the majority of
conditions encountered in clinical practice. Particular attention
has been given to the evaluation of the severity and outcome of
each disorder and to advise on comparing risks and benefits of
treatment. This resource will prove invaluable to all involved in
informing patients of treatment options and making important
cost-efficient decisions on care. It should also be welcomed in the
planning of clinical trials for potential new therapies and as a
reference in medicolegal spheres.
Amyotrophic lateral sclerosis or motor neurone disease is one of
the most debilitating and devastating of the neurological diseases.
The only comprehensive textbook available on the topic, this
completely reorganized and expanded new edition examines all
aspects of ALS from pathology to patient care and provides the
reader with a ready reference to help with the difficulties
encountered in patient diagnosis and treatment. Undoubtedly an
important work in the field, this book will be of great interest to
clinical neurologists and trainees, and to all those concerned with
the care of people with ALS.
Natural history and treatment outcome of disease are of critical
importance to patients, clinicians and health care providers across
the full range of medical disciplines. In many specialties, such as
neurology and neurosurgery, this sort of information can be hard to
obtain in the absence of extensive outcome studies and agreed
measures of outcome in different conditions. This volume seeks to
help inform about effective care and rehabilitation by providing a
succinct review of whatever data is available for the majority of
conditions encountered in clinical practice. Particular attention
has been given to the evaluation of the severity and outcome of
each disorder and to advise on comparing risks and benefits of
treatment. This resource will prove invaluable to all involved in
informing patients of treatment options and making important
cost-efficient decisions on care. It should also be welcomed in the
planning of clinical trials for potential new therapies and as a
reference in medicolegal spheres.
Here is the first book to provide a comprehensive overview of the
clinical, pathological, and research aspects of motor neuron
disease (MND). The text contains all essential features of the
anatomy, physiology, pharmacology and toxicology of the motor
system, a full description of MND and its variants, as well as
historical developments and a review of the current concepts and
controversies. This book comes at a time of increasing interest in
neurodegenerative disorders and MND in particular. It will prove a
key reference book with an integrated overview of the field, and
will be indispensable to practicing neurologists, researchers, and
all those with an interest in MND.
Museie biopsy is a long-established technique in clinical practice
having been introduced by Duchenne in 1868 (Arch. Gen. Med., 11,
5-179). However, the needle method used by Duchenne was not
generally adopted, although Shank and Hoagland described a similar
technique in 1943 (Science, 98, 592), and open muscle biopsy has
for long been preferred in clinical practice, even with the advent
of newer needle biopsy methods (Bergstrom, 1962, Scand. J. Clin.
Lab. Invest., 14, Suppl. 68, 1-110). The development of enzyme
histochemical techniques has contributed greatly to knowledge of
muscle pathology. More recently electron microscopy and
immunocytochemistry have also been applied to clinical diagnosis of
neuromuscular disease. This book is intended to serve as a
practical guide in muscle pathology, particularly for
histopathologists, and for those in training. As enzyme
histochemistry has become more widely available, formalin-fixed
methods have become less frequently used in muscle biopsy work. In
this new edition of Muscle Biopsy Pathology we have taken account
of the advances in classification and histological technique, and
in knowledge of neuromuscular diseases, that have emerged since the
first editionwas published in 1984. We hope that this book will
continue to be used as a practical guide in the diagnosis and
understanding of these disorders. 1. Introduction 1. 1
Generalfeatures of muscle The differentiation of musde into red and
white types is a feature of all vertebrates and, indeed, of
chordates.
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