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.
Publisher: Oxford University Press
Number of pages: 480
Weight: 966 g
Dimensions: 258 x 181 x 33 mm
Edition: 2nd Revised edition
"Although this is a rare syndrome with a clear genetic basis, this book captures its complexity on so many levels (genetic, biological, medical, psychosocial) in truly understanding a "simple" diagnosis of epilepsy. The editors and authors have performed a laudable feat in organizing and making accessible information on this very complicated topic, particularly given the continued flow of new scientific information." -- Doody's