Definición:
A group of severe neurodegenerative diseases characterized by intracellular accumulation of autofluorescent wax-like lipid materials (; ) in neurons. There are several subtypes based on mutations of the various genes, time of disease onset, and severity of the neurological defects such as progressive ; ; and visual failure.
Sinónimos:
Enfermedad de Jansky-Bielschowsky /
Enfermedad de Kufs /
Lipofuscinosis Neuronal Ceroide /
Enfermedad de Santavuori-Haltia /