juvenile neuronal ceroid lipofuscinosis with granular osmiophilic deposits (JNCL/GROD)

Pathology

• ultrastructurally characterized by fingerprints &/or curvilinear bodies in many cell types.

Genetics

• aberrant gene PPT1 (see OMIM)

More general terms

• juvenile neuronal ceroid lipofuscinosis (JNCL)

Additional terms

• palmitoyl protein thioesterase 1; palmitoyl-protein hydrolase 1 (PPT1, PPT)

Database

• OMIM: https://mirror.omim.org/entry/600680