The Neuronal Ceroid Lipofuscinoses (Batten Disease)

ISBN-13: 9780199590018 / Angielski / Twarda / 2011 / 448 str.

Sara Mole; Ruth Williams; Hans Goebel

Opis

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.

O autorze

Dr Sara Mole read Natural Sciences at Cambridge before a PhD in Biochemistry at Imperial College of Science and Technology London. She then undertook postdoctoral research in molecular biology then molecular genetics, always with a link to disease. She has focused on Batten disease at University College London since 1992, contributing to the identification of the first genes and then their functional biology. In 1998 she launched the Mutation Database, which was later expanded into the web site NCL Resource to additionally provide a global gateway for Batten disease. In 1998 she co-edited a monograph on Batten disease that is the forerunner to this much expanded edition. Dr Ruth Williams studied medicine at The University of Nottingham, graduating in 1985. She trained in Paediatrics and in Paediatric Neurology before taking up her current post as a Consultant Paediatric Neurologist at the Evelina Children's Hospital in 2003. As part of her training she undertook a period of research into the genetic basis of the NCLs and obtained her doctorate in 1996. Her special interests include the diagnosis and management of childhood epilepsies and the NCLs. Prof. Hans H. Goebel is a neuropathologist who received his specialty education in neuropathology at New York University and in the Indiana University Medical Center in Indianapolis/USA. There he applied the technique of electron microscopy to innumerable biopsied and autopsied human tissues affected by neuronal ceroid lipofuscinoses (NCL) and other lysosomal and neurodegenerative diseases. He has written numerous articles and book chapters on the neuropathology and especially the ultrastructure of the NCLs. In 1999 he edited a monograph on NCL which grew out of a Concerted Action of the European Union concerning the NCL.