title: Prenatal testing for late infantile neuronal ceroid lipofuscinosis.
abstract: Classic late infantile neuronal ceroid lipofuscinosis (LINCL) is a neurodegenerative disease in which autofluorescent "curvilinear" storage bodies accumulate in tissues from affected patients. Recently, the LINCL gene (CLN2) has been found to code for a pepstatin-insensitive lysosomal protease whose activity is deficient in LINCL specimens. We report the first 2 cases of successful prenatal testing for LINCL by using DNA and enzyme-based methods on amniocytes, and describe a new private mutation in one of the families analyzed. These approaches allow definitive prenatal diagnosis and represent a significant improvement over previous pathological methods.
authors.affiliation: Department of Pediatrics, Rush-Presbyterian-St Luke's Medical Center, Chicago, IL 60612, USA.
authors.forename: E
authors.initials: E
authors.lastname: Berry-Kravis
authors.forename: D E
authors.initials: DE
authors.lastname: Sleat
authors.forename: I
authors.initials: I
authors.lastname: Sohar
authors.forename: P
authors.initials: P
authors.lastname: Meyer
authors.forename: R
authors.initials: R
authors.lastname: Donnelly
authors.forename: P
authors.initials: P
authors.lastname: Lobel
mesh_terms: D000328:Adult; D000626:Aminopeptidases; D000649:Amniocentesis; D002675:Child, Preschool; D004247:DNA / Q000235:genetics; D004152:Dipeptidyl-Peptidases and Tripeptidyl-Peptidases; D010450:Endopeptidases; D005260:Female; D006801:Humans; D008297:Male; D009154:Mutation / Q000235:genetics; D009472:Neuronal Ceroid-Lipofuscinoses / Q000175:diagnosis* / Q000235:genetics; D010447:Peptide Hydrolases / Q000235:genetics; D011296:Prenatal Diagnosis; D057057:Serine Proteases; D000091346:Tripeptidyl-Peptidase 1
chemical_list: D000091346:Tripeptidyl-Peptidase 1; D004247:DNA; D010450:Endopeptidases; D010447:Peptide Hydrolases; D057057:Serine Proteases; D000626:Aminopeptidases; D004152:Dipeptidyl-Peptidases and Tripeptidyl-Peptidases; C000717267:TPP1 protein, human