The gene for Batten disease (CLN3) has been mapped to human chromosome 16 by demonstration of linkage to the haptoglobin locus, and its localization has been further refined using a panel of DNA markers.
In a material of 26 Caucasian families, 23 with at least 2 children affected with Batten disease, we found a lod score of 3.00 at theta = 0.00 in males and theta = 0.26 in females with haptoglobin (HP), and assign the locus for Batten disease to 16q22.
The decreased ERG responses are discussed with reference to the known retinal abnormalities in both generalized oculocutaneous albinism and Batten's disease, another ceroid-lipofuscin storage disorder.
Mice deficient for the lysosomal proteinase cathepsin D exhibit progressive atrophy of the intestinal mucosa and profound destruction of lymphoid cells.
Mitochondrial damage results in a reversible increase in lysosomal storage material in lymphoblasts from patients with juvenile neuronal ceroid-lipofuscinosis (Batten Disease).
Analysis of disease haplotypes for four microsatellite markers in this interval, D16S288, D16S299, D16S298, and SPN, has shown significant allelic association between one allele at each of these loci and CLN3.
Batten disease (juvenile-onset neuronal ceroid lipofuscinosis; JNCL) is an autosomal recessive neurodegenerative disorder, characterized by the cytosomal accumulation of autofluorescent proteolipopigments in neurons and other cell types.