The results of linkage analyses in Finnish variant CLN2 families using the markers linked to CLN1 revealed an exclusion; i.e., this form of CLN is caused by a locus different from that of CLN1.
The ERGs of these affected setters differed from those that have been recorded from humans with neuromal ceroid lipofuscinosis (Batten's disease), humans with hereditary retinitis pigmentosa, Irish setters with rod-cone dysplasia, and miniature French poodles with progressive rod-cone degeneration.
Mice deficient for the lysosomal proteinase cathepsin D exhibit progressive atrophy of the intestinal mucosa and profound destruction of lymphoid cells.
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.
In this family, the patient and one of the healthy siblings have identical haplotypes, excluding linkage of early juvenile NCL to the CLN3 locus on 16p12.1-11.2.
Recent advances in the genetics of NCL have enabled us to use polymorphic DNA markers linked to the CLN1 and CLN3 loci as a tool in the differential diagnosis of NCL.
The loci for the juvenile (CLN3) and infantile (CLN1) neuronal ceroid lipofuscinosis (NCL) types have been mapped by genetic linkage analysis to chromosome arms 16p and 1p, respectively.
The loci for the juvenile (CLN3) and infantile (CLN1) neuronal ceroid lipofuscinosis (NCL) types have been mapped by genetic linkage analysis to chromosome arms 16p and 1p, respectively.
Considering that inclusions of lipofuscin-like substances are observed in retinal pigmentary cells of patients with Stargardt's disease on the one hand, and that the early symptoms of neuronal ceroid lipofuscinosis (CLN3) are suggestive of Stargardt's disease on the other hand (age of loss of visual acuity, appearance of the fundus), we decided to test allelism of Stargardt's disease with the infantile (CLN1) and juvenile forms of neuronal ceroid lipofuscinosis (CLN3), which map to chromosomes 1p32 and 16p12-p11 respectively.