ISBN : 9780199590018
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.
1. The NCLs: Evolution of the concept and classification
2. NCL nomenclature and classification
3. NCL Diagnosis and algorithms
4. Morphological diagnostic and pathological considerations
5. General principles of medical management
6. CLN1
7. CLN2
8. CLN3
9. CLN5
10. CLN6
11. CLN7
12. CLN8
13. CLN10
14. Genetically unassigned or unusual NCLs
15. Unicellular Models
16. Simple animal models
17. Small animal models
18. Large animal models
19. Evolutionary conservation of NCL proteins
20. Mutations in NCL genes
21. Therapeutic strategies
22. Outlook into the next decade
23. Appendix 1 - NCL incidence and prevalence data
24. Appendix 2 - Useful information