Beschreibung:
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.
Synonym(s):
Spätinfantile neuronale Zeroidlipofuszinose /
Jansky-Bielschowsky-Krankheit /
Neuronale Zeroidlipofuszinose, spätinfantile /
Adulte neuronale Zeroidlipofuszinose /