Genetically-verified case of neuronal ceroidlipofuscinosis with a novel mutation in CLN6 gene

Abstract

Neuronal ceroidlipofuscinoses also called Batten disease (NCLs) also known as Batten disease, are a heterogeneous group of common inherited neurodegenerative diseases beginning at different times of the childhood and, more rarely, in adults. To date, 14 genetically different variants have been described, characterized primarily by progressive mental retardation, motor and visual loss, beginning with childhood or adolescence. They are due to the accumulation of autofluorescence, electron-dense granules of the lipo-peptides of ceroid and lipofuscin in the lysosomes of the neurons, leading to their death or respiration. to the loss of neurons in the brain and retina. Depending on the age of appearance, they are generally divided into infantile, late infantile, juvenile and forms in adults. Some authors separate as an autonomous congenital form as well as a Northern epileptic variant. There is, however, genetic and allelic heterogeneity, and a new nomenclature and classification system has been developed and proposed to take into account the responsible gene and age at initiation of the disease.
We present a child with geneticcaly verified neuronal ceroidlipofuscinosis with a novel mutation in the CLN6 gene and with a characteristic course of the disease corresponding phenotypically to a late infantile form.