The neuronal ceroid lipofuscinoses (Batten disease) / edited by Sara E. Mole, Ruth E. Williams, and Hans H. Goebel ; editorial assistance by G. Machado da Silva
NCLS: evolution of the concept and classification -- NCL nomenclature and classification -- NCL diagnosis and algorithms -- Morphological diagnostic and pathological consideration -- General principle of medical management -- CLN1 -- CLN2 -- CLN3 -- CLN5 -- CLN6 -- CLN7 -- CLN8 -- CLN10 -- Genetically unassigned or unusual NCLS -- Unicellular models -- Simple animal models -- Small animal models -- Large animal models -- Evoluationary conservation of NCL proteins -- Mutations in NCL genes -- Therapeutic strategies -- Outlook into the next decade
Summary
The neuronal ceroid lipofuscinoses are an extremely rare group of inherited neurodegenerative diseases that primarily affect children. 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