This title will present all current knowledge of Batten disease from research to clinical evaluation. NCL is not well recognized in underdeveloped countries because the diagnostic technology is lacking. With the information in this volume, however, a specific diagnosis of NCL could be made. Also, specific familial mutations obtained through genetic tests may guide prenatal diagnoses for at-risk families.

The neuronal ceroid lipofuscinoses are an extremely rare group of inherited neurodegenerative diseases that primarily affect children. Core symptoms of these conditions typically include epilepsy, cognitive decline and visual failure. These diseases are so rare that professionals who come into contact with them need a consultative reference work that enables them to become expert, or identify who to contact for more details. Fully updated and revised, this second edition continues to be the definitive volume on this devastating group of disorders. Written by an international collection of authorities in the field, it provides invaluable advice on their diagnosis, patient care, and new treatments that are available. This new edition of the definitive reference text on the neuronal ceroid lipofuscinoses will prove useful for clinicians, family physicians, research scientists, diagnostic laboratories, families affected by the disease as well as by workers in industry planning translational research.

Embark on a transformative journey through the groundbreaking pages of "Handbook of Batten Disease Breakthrough." This masterfully crafted guide is not just a compilation of information but a beacon of hope, a lifeline for those seeking answers in the complex realm of Batten Disease. UNDERSTANDING BATTEN DISEASE Delve deep into the intricacies of Batten Disease, demystifying its classifications and exploring the genetic tapestry that weaves its tragic narrative. Discover the science behind the autosomal recessive inheritance and the genetic mutations driving this relentless condition. CLINICAL MANIFESTATIONS Witness the unfolding drama of Batten Disease through the lens of early signs, cognitive decline, and motor impairment. Grasp the profound impact on daily life and functioning, providing an unfiltered view of the disease's progressive nature. DIAGNOSIS AND SCREENING Navigate the challenges of early diagnosis with insights into diagnostic procedures, genetic testing, and neurological examinations. Uncover the pivotal role of genetic counseling in steering families through the labyrinth of uncertainty. TREATMENT APPROACHES Explore the current therapies and interventions that offer a glimmer of hope. From medications to assistive healthcare and emerging experimental treatments, witness the holistic approach that promises breakthroughs in patient care. COPING WITH BATTEN DISEASE Experience the emotional and psychological impact of Batten Disease and discover the robust support systems available for patients and their families. Engage with caregiver support networks and patient advocacy groups, cultivating resilience in the face of adversity. RESEARCH AND FUTURE DIRECTIONS Propel yourself into the frontier of Batten Disease research, exploring ongoing initiatives and potential breakthroughs. Delve into the ethical aspects surrounding the quest for solutions, laying the groundwork for a future filled with promise. INDIVIDUAL HISTORIES AND VIEWS Hear the poignant narratives of those affected by Batten Disease, from patients to caregivers. Join the campaigns for advocacy and awareness, becoming an integral part of the movement toward change. VERDICT: An Overview of the Main Points Synthesize the wealth of information provided and glimpse into the hopeful future that awaits. This section is your roadmap to understanding, acceptance, and the unwavering belief that breakthroughs are on the horizon. HOPE FOR THE FUTURE: As the curtains fall, seize the opportunity to contribute to the collective effort against Batten Disease. Your involvement, whether through awareness, support, or research, is the key to unlocking a future free from the shackles of this devastating condition. Take Action Now! This handbook is not just a book; it's a call to action. Join the movement, be a catalyst for change, and let the breakthroughs in understanding and treating Batten Disease begin with you. Your involvement is not just important; it's indispensable. ORDER YOUR COPY today and become a part of the journey toward a brighter, disease-free future

Neurogenetics, Part II, Volume 148, the latest release in the Handbook of Clinical Neurology, provides the latest information on the genetic methodologies that are having a significant impact on the study of neurological and psychiatric disorders. Using genetic science, researchers have identified over 200 genes that cause or contribute to neurological disorders. Still an evolving field of study, defining the relationship between genes and neurological and psychiatric disorders is expected to dramatically grow in scope. Part II builds on the foundation of Part I, expanding the coverage to dementias, paroxysmal disorders, neuromuscular disorders, white matter and demyelination diseases, cerebrovascular diseases, adult psychiatric disorders and cancer and phacomatoses. - Contains comprehensive coverage of neurogenetics - Details the latest science and its impact on our understanding of neurological, psychiatric disorders - Presents a focused reference for clinical practitioners and the neuroscience/neurogenetics research community

The child is neither an adult miniature nor an immature human being: at each age, it expresses specific abilities that optimize adaptation to its environment and development of new acquisitions. Diseases in children cover all specialties encountered in adulthood, and neurology involves a particularly large area, ranging from the brain to the striated muscle, the generation and functioning of which require half the genes of the whole genome and a majority of mitochondrial ones. Human being nervous system is sensitive to prenatal aggression, is particularly immature at birth and development may be affected by a whole range of age-dependent disorders distinct from those that occur in adults. Even diseases more often encountered in adulthood than childhood may have specific expression in the developing nervous system. The course of chronic neurological diseases beginning before adolescence remains distinct from that of adult pathology – not only from the cognitive but also motor perspective, right into adulthood, and a whole area is developing for adult neurologists to care for these children with persisting neurological diseases when they become adults. Just as pediatric neurology evolved as an identified specialty as the volume and complexity of data became too much for the general pediatician or the adult neurologist to master, the discipline has now continued to evolve into so many subspecialties, such as epilepsy, neuromuscular disease, stroke, malformations, neonatal neurology, metabolic diseases, etc., that the general pediatric neurologist no longer can reasonably possess in-depth expertise in all areas, particularly in dealing with complex cases. Subspecialty expertise thus is provided to some trainees through fellowship programmes following a general pediatric neurology residency and many of these fellowships include training in research. Since the infectious context, the genetic background and medical practice vary throughout the world, this diversity needs to be represented in a pediatric neurology textbook. Taken together, and although brain malformations (H. Sarnat & P. Curatolo, 2007) and oncology (W. Grisold & R. Soffietti) are covered in detail in other volumes of the same series and therefore only briefly addressed here, these considerations justify the number of volumes, and the number of authors who contributed from all over the world. Experts in the different subspecialties also contributed to design the general framework and contents of the book. Special emphasis is given to the developmental aspect, and normal development is reminded whenever needed – brain, muscle and the immune system. The course of chronic diseases into adulthood and ethical issues specific to the developing nervous system are also addressed. - A volume in the Handbook of Clinical Neurology series, which has an unparalleled reputation as the world's most comprehensive source of information in neurology - International list of contributors including the leading workers in the field - Describes the advances which have occurred in clinical neurology and the neurosciences, their impact on the understanding of neurological disorders and on patient care

A review of childhood neurodegenerative and other progressive but non-degenerative disorders to guide their diagnosis and management.