title: Genetic heterogeneity of neuronal ceroid lipofuscinosis in The Netherlands.
abstract: An overview of patients in the Netherlands who are known to us with neuronal ceroid lipofuscinosis (NCL) is presented. Several CLN genes involved in NCL have been isolated or mapped. We have analyzed families with different types of NCL with polymorphic markers linked to CLN loci to investigate the genetic heterogeneity of NCL in the Netherlands. Haplotype analysis suggests that in addition to the CLN2 and CLN6 genes another gene is involved in at least one family with late infantile NCL in the Netherlands. The CLN2 and CLN6 loci have also been excluded in a family with protracted juvenile NCL.
authors: Department of Genetics, Section of Human Genetics, Leiden, 2300 RA, The Netherlands.P.Taschner@ruly-46.medfac.leidenuniv.nl
authors: P E
authors: PE
authors: Taschner
authors: P F
authors: PF
authors: Franken
authors: L
authors: L
authors: van Berkel
authors: M H
authors: MH
authors: Breuning
mesh_terms: D016213:Cyclins / Q000235:genetics; D004252:DNA Mutational Analysis; D005260:Female; D017353:Gene Deletion; D005819:Genetic Markers; D006239:Haplotypes; D006801:Humans; D008297:Male; D009426:Netherlands; D009472:Neuronal Ceroid-Lipofuscinoses / Q000235:genetics*; D017354:Point Mutation; D000091346:Tripeptidyl-Peptidase 1
chemical_list: D016213:Cyclins; D005819:Genetic Markers; D000091346:Tripeptidyl-Peptidase 1; C000717267:TPP1 protein, human