Syndromes: Rapid Recognition and Perioperative Implications

Lipofuscinoses, Neuronal Ceroid: Overview

At a Glance

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

View Table||Download (.pdf)

Table L-3 Lipofuscinoses, Neuronal Ceroid

Type

Age of Onset

Clinical Features

Gene Locus and Chromosomal Location

Defective Enzyme

Infantile

6-18 months

Early psychomotor and visual deterioration, late-onset seizures

CLN1 on 1p32

Lysosomal palmitoyl-protein thioesterase

Late infantile (classic)

2-4 years

Early psychomotor and late visual deterioration, early-onset seizures

CLN2 on 11p15

Lysosomal pepstatin-insensitive protease

Variant late infantile

2-6 years

Early psychomotor and visual deterioration, early-onset seizures

CLN6 on 15q21-23

Unknown

Turkish variant late infantile

2-4 years

Early psychomotor deterioration, variable-onset visual deterioration and seizures

CLN7 on unknown chromosome

Unknown

Finnish late infantile

5-7 years

Early psychomotor and visual deterioration, late-onset seizures

CLN5 on 13q21-q32

Novel membrane protein (not an enzyme)

Juvenile

4-8 years

Late-onset psychomotor deterioration and seizures, variable-onset visual deterioration

CLN3 on 16p12

Novel membrane protein (not an enzyme)

Progressive epilepsy with mental retardation

5-10 years

Early-onset seizures, late psychomotor deterioration, no visual deterioration

CLN8 on 8p23

Unknown

Kufs disease

>20 years

Early-onset psychomotor deterioration and seizures (or no seizures), no visual involvement

CLN4 on unknown chromosome

Unknown

Pop-up div Successfully Displayed

This div only appears when the trigger link is hovered over. Otherwise it is hidden from view.

Lipofuscinoses, Neuronal Ceroid: Overview

Send Email

Citation

Jump to a Section

At a Glance

Pop-up div Successfully Displayed