Special edition: The NCLs/Batten disease

Abstract

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Phenotypic/Genotypic Profile of Children with Neuronal Ceroid Lipofuscinosis in Southern Brazil

“…Brazil and Argentina together account for over half of the reported cases in these studies. [11][12][13] Recent advances in genetics have significantly contributed to the diagnostic process through genetic examinations. This has been crucial in characterizing the diverse phenotypes within the CLN spectrum.…”

Intravitreal enzyme replacement for inherited retinal diseases

“…Patients with Batten disease manifest seizures, intellectual disability, visual impairment, motor deterioration, and premature death because of extensive loss of cells in the CNS [14]. Currently, there are 13 known forms of the disease, each arising from mutations in different genes [15]. Among these, five NCL genes encode soluble lysosomal enzymes and proteins, including the soluble lysosomal enzyme tripeptidyl peptidase 1 (TTP1) which causes neuronal ceroid lipofuscinosis type 2 (CLN2) [16,17].…”