Genetic heterogeneity of neuronal ceroid lipofuscinosis in the Netherlands

An overview of patients in the Netherlands who are known to us with neurona l ceroid lipofuscinosis (NCL) is presented. Several CLN genes involved in N CL have been isolated or mapped. We have analyzed families with different t ypes of NCL with polymorphic markers linked to CLN loci to investigate the genetic heterogeneity of NCL in the Netherlands. Haplotype analysis suggest s that in addition to the CLN2 and CLN6 genes another gene is involved in a t 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 . (C) 1999 Academic Press.