Patients present with progressive dementia, seizures, and progressive visual failure. These neurodegenerative disorders are characterized by the intracellular accumulation of autofluorescent lipopigment storage material in different patterns ultrastructurally, which is the basis for classification:
CLN1: Granular osmiophilic deposits (GROD)
CLN2: Curvilinear
CLN3: Fingerprint
CLN4: Mixed combinations of granular, curvilinear, fingerprint, and rectilinear
CLN5: Mixed combinations of granular, curvilinear, fingerprint, and rectilinear
CLN6: Mixed combinations of granular, curvilinear, fingerprint, and rectilinear
CLN7: Mixed combinations of granular, curvilinear, fingerprint, and rectilinear
CLN8: Mixed combinations of granular, curvilinear, fingerprint, and rectilinear