2021 Volume 53 Issue 4 Pages 251-256
Neuronal ceroid lipofuscinoses (NCLs) are hereditary lysosomal storage disorders characterized by progressive neurodegeneration and intracellular accumulation of auto-fluorescent lipopigment. Most NCLs, except for some adult types, present autosomal recessive inheritance patterns with progressive motor development regression, convulsions, and visual impairment, and the prognosis is generally poor with childhood onset. The clinical features are classified into four types : infantile, late infantile, juvenile, and adult. Recently, abnormalities in 13 genes, including genes encoding lysosomal enzymes, have been reported as the cause of the diseases.
NCLs have allelic heterogeneity with different clinical courses even with the same gene mutation. Various pathogenic mechanisms have been suggested, but many remain unclear. Although there is no underlying therapy for most NCLs, enzyme replacement therapy of cerliponase alfa via the intracerebroventricular route in NCL type 2 (CLN2) significantly reduces the rate of decline in motor and language functions in comparison with that in historical controls. Early diagnosis, including newborn screening and administration of recombinant enzymes, may be important in the management of CLN2.
