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Lipofuscinoses, Neuronal Ceroid: Overview

Group of inherited, neurodegenerative, lysosomal storage disorders characterized by progressive mental and motor deterioration, seizures, and early death. Visual loss is a feature of most forms. The phenotypes have been classified clinically by age of onset and order of appearance of the clinical features. See Table L-3.

Table L-3 Lipofuscinoses, Neuronal Ceroid
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Table L-3 Lipofuscinoses, Neuronal Ceroid
TypeAge of OnsetClinical FeaturesGene Locus and Chromosomal LocationDefective Enzyme
Infantile6-18 monthsEarly psychomotor and visual deterioration, late-onset seizuresCLN1 on 1p32Lysosomal palmitoyl-protein thioesterase
Late infantile (classic)2-4 yearsEarly psychomotor and late visual deterioration, early-onset seizuresCLN2 on 11p15Lysosomal pepstatin-insensitive protease
Variant late infantile2-6 yearsEarly psychomotor and visual deterioration, early-onset seizuresCLN6 on 15q21-23Unknown
Turkish variant late infantile2-4 yearsEarly psychomotor deterioration, variable-onset visual deterioration and seizuresCLN7 on unknown chromosomeUnknown
Finnish late infantile5-7 yearsEarly psychomotor and visual deterioration, late-onset seizuresCLN5 on 13q21-q32Novel membrane protein (not an enzyme)
Juvenile4-8 yearsLate-onset psychomotor deterioration and seizures, variable-onset visual deteriorationCLN3 on 16p12Novel membrane protein (not an enzyme)
Progressive epilepsy with mental retardation5-10 yearsEarly-onset seizures, late psychomotor deterioration, no visual deteriorationCLN8 on 8p23Unknown
Kufs disease>20 yearsEarly-onset psychomotor deterioration and seizures (or no seizures), no visual involvementCLN4 on unknown chromosomeUnknown

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