A collection of invited papers from a Muscular Dystrophy Association sponsored symposium which highlight findings and theories on the molecular genetics of these diseases, assess concepts on immune-mediated motor neuron destruction and examine the pathogenesis of motor neuron disease.

Amytrophic Lateral Sclerosis (ALS or motor neurone disease) is a progressive neurodegenerative disease that can cause profound suffering for both the patient and their family. Whilst new treatments for ALS are being developed, these are not curative and offer only the potential to slow its progression. Palliative care must therefore be integral to the clinical approach to the disease. Palliative Care in Amyotrophic Lateral Sclerosis: From diagnosis to bereavement reflects the wide scope of this care; it must cover not just the terminal phase, but support the patient and their family from the onset of the disease. Both the multidisciplinary palliative care team and the neurology team are essential in providing a high standard of care and allowing quality of life (both patient and carer) to be maintained. Clear guidelines are provided to address care throughout the disease process. Control of symptoms is covered alongside the psychosocial care of patients and their families. Case studies are used to emphasise the complexity of the care needs and involvement of the patient and family, culminating in discussion of bereavement. Different models of care are explored, and this new edition utilizes the increase in both the evidence-base and available literature on the subject. New topics discussed include complementary therapies, personal and family experiences of ALS, new genetics research, and updated guidelines for patient care, to ensure this new edition remains the essential guide to palliative care in ALS.

Molecular and Cellular Therapies for Motor Neuron Diseases discusses the basics of the diseases, also covering advances in research and clinical trials. The book provides a resource for students that will help them learn the basics in a detailed manner that is required for scientists and clinicians. Users will find a comprehensive overview of the background of Amyotrophic Lateral Sclerosis (ALS/Lou Gehrig's Disease) and Spinal Muscular Atrophy (SMA), along with the current understanding of their genetics and mechanisms. In addition, the book details gene and cell therapies that have been developed and their translation to clinical trials. - Provides an overview of gene and cell therapies for amyotrophic lateral sclerosis (ALS) and other motor neuron diseases - Edited by a leading Neurosurgeon and two research scientists to promote synthesis between basic neuroscience and clinical relevance - Presents a great resource for researchers and practitioners in neuroscience, neurology, and gene and cell therapy

'Motor Neuron Disease in Adults' reviews new information from 1998 as it applies to all aspects of motor neuron disease. Articles included use evidence-based methods to ensure that the new information is solid and advances the topic. The book can be used by anyone who provides any type of care to ALS patients.

This practical guide to the diagnosis of neurodegenerative diseases discusses modern molecular techniques, morphological classification, fundamentals of clinical symptomology, diagnostic pitfalls and immunostaining protocols. It is based on the proteinopathy concept of neurodegenerative disease, which has influenced classification and provides new strategies for therapy. Numerous high-quality images, including histopathology photomicrographs and neuroradiology scans, accompany the description of morphologic alterations and interpretation of immunoreactivities. Diagnostic methods and criteria are placed within recent developments in neuropathology, including the now widespread application of immunohistochemistry. To aid daily practice, the guide includes diagnostic algorithms and offers personal insights from experienced experts in the field. Special focus is given to the way brain tissue should be handled during diagnosis. This is a must-have reference for medical specialists and specialist medical trainees in the fields of pathology, neuropathology and neurology working with neuropathologic features of neurodegenerative diseases.

Essential medical facts on over 2,000 genetic syndromes. Organized alphabetically, this book provides comprehensive medical coverage for each syndrome, from genetic basis to manifestations to related medical considerations.

This book presents a wide-ranging series of illustrative clinical cases that cover the main pathologies and areas of interest in diagnostic and therapeutic neuroradiology. The aim is to enable the reader to learn important lessons from real cases that exemplify the caseload and capabilities of a large, modern neuroradiology department. The cases are presented in a quiz format. For each one, the first page documents clinical and imaging findings, followed by questions concerning these findings, differential diagnosis, and other aspects. On the second page, the answers are provided, with concise explanation and discussion. Attention is also drawn to the relevant available literature. Most of the cases derive from the Department of Neuroradiology at the University Hospital Center of Porto (Portugal), which is staffed by a large multidisciplinary team providing cutting-edge services. In addition, some cases from other centers have been included to ensure wider representation of experience. The book will be of particular value for residents and fellows in neuroradiology, radiology, neurology, and neurosurgery.

A diagnosis of amyotrophic lateral sclerosis (also known as Lou Gehrig's disease or motor neuron disease) is a progressive neurodegenerative disorder that exerts a notorious life-shortening physical toll. Understandably, clinicians are keen to avoid a wrong diagnosis when there are such serious consequences, but any delay in diagnosis can result in unnecessary, and sometimes harmful, interventions, and prevents prompt implementation of much-needed physical and emotional support. Starting from the premise that ALS is not one disease but a syndrome, with a spectrum of upper and lower motor neuron involvement, this highly readable resource examines the causes of diagnostic delay and how to avoid them. With no diagnostic test to confirm the disease, no mandatory investigations and very few plausible 'ALS mimics', the authors take a pragmatic approach to what must always be a clinical diagnosis. With case presentations and teaching points to aid understanding, 'Fast Facts: ALS' will give clinicians the confidence to confirm or exclude a diagnosis of ALS, so that individuals facing this most challenging of conditions can receive rapid multidisciplinary support to maximize the quality of their remaining life. Contents: • Defining the syndrome • Epidemiology and pathophysiology • The first symptoms • Differential diagnosis • Investigations • Emerging diagnostic biomarkers

This text creates a framework for the integration of urological care into the long-term management of patients with progressive neurological conditions. It begins with a general review of the neuroanatomy and physiology of the bladder, followed by a discussion of common techniques for evaluating bladder and upper tract function, and the general principles of bladder management in patients with neurogenic bladder disease. Section II narrows the scope of each chapter to focus on specific neurological disorders such as Parkinson's Disease, Alzheimer's Disease, Dementia, and Cerebral Palsy. Each chapter begins with a brief synopsis of the neurologic basis of each disease, followed by its most common urologic manifestations, specific recommendations for urologic care in each disease state, and finally a recommended pathway for integrated long-term care of these patients based on available evidence and expert opinion. The final section of the text reviews the generalized care of patients with advanced disease, including palliative and end of life options, focusing on urologic interventions. Urological Care for Patients with Progressive Neurological Conditions will be an invaluable resource for urologists, neurologists, and all health care providers treating patients with neurological diseases.