title: Genetic heterogeneity in neuronal ceroid lipofuscinosis (NCL): evidence that the late-infantile subtype (Jansky-Bielschowsky disease; CLN2) is not an allelic form of the juvenile or infantile subtypes.
abstract: The neuronal ceroid lipofuscinoses (NCLs) are a group of inherited neurodegenerative disorders characterized by the accumulation of autofluorescent lipopigment in neurons and other cell types. Inheritance is autosomal recessive. Three main childhood subtypes are recognized: infantile (Haltia-Santavuori disease; MIM 256743), late infantile (Jansky-Bielschowsky disease; MIM 204500), and juvenile (Spielmeyer-Sjögren-Vogt, or Batten, disease; MIM 204200). The gene loci for the juvenile (CLN3) and infantile (CLN1) types have been mapped to human chromosomes 16p and 1p, respectively, by linkage analysis. Linkage analysis of 25 families segregating for late-infantile NCL has excluded these regions as the site of this disease locus (CLN2). The three childhood subtypes of NCL therefore arise from mutations at distinct loci.
authors.affiliation: Department of Paediatrics, University College of London Medical School, England.
authors.forename: R
authors.initials: R
authors.lastname: Williams
authors.forename: J
authors.initials: J
authors.lastname: Vesa
authors.forename: I
authors.initials: I
authors.lastname: Järvelä
authors.forename: T
authors.initials: T
authors.lastname: McKay
authors.forename: H
authors.initials: H
authors.lastname: Mitchison
authors.forename: E
authors.initials: E
authors.lastname: Hellsten
authors.forename: A
authors.initials: A
authors.lastname: Thompson
authors.forename: D
authors.initials: D
authors.lastname: Callen
authors.forename: G
authors.initials: G
authors.lastname: Sutherland
authors.forename: D
authors.initials: D
authors.lastname: Luna-Battadano
mesh_terms: D000483:Alleles; D002675:Child, Preschool; D002878:Chromosomes, Human, Pair 1; D002885:Chromosomes, Human, Pair 16; D005260:Female; D008040:Genetic Linkage; D006801:Humans; D007223:Infant; D008297:Male; D009472:Neuronal Ceroid-Lipofuscinoses / Q000145:classification / Q000235:genetics*; D000091346:Tripeptidyl-Peptidase 1