The Neuronal Ceroid Lipofuscinoses (Batten Disease)

Hardcover | March 10, 2011

EditorSara Mole, Ruth Williams, Hans Goebel

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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 intocontact 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.

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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 intocontact with them need a consultative refer...

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...

other books by Sara Mole

Format:HardcoverDimensions:480 pages, 10 × 7.01 × 0.98 inPublished:March 10, 2011Publisher:Oxford University PressLanguage:English

The following ISBNs are associated with this title:

ISBN - 10:019959001X

ISBN - 13:9780199590018

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Table of Contents

1. The NCLs: Evolution of the concept and classification2. NCL nomenclature and classification3. NCL Diagnosis and algorithms4. Morphological diagnostic and pathological considerations5. General principles of medical management6. CLN17. CLN28. CLN39. CLN510. CLN611. CLN712. CLN813. CLN10/CTSD14. Genetically unassigned or unusual NCLs15. Unicellular Models16. Simple animal models17. Small animal models18. Large animal models19. Evolutionary conservation of NCL proteins20. Mutations in NCL genes21. Therapeutic strategies22. Outlook into the next decade23. Appendix 1 - NCL incidence and prevalence data24. Appendix 2 - Useful information