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.

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.

[1]  L. Peltonen,et al.  Refined assignment of the infantile neuronal ceroid lipofuscinosis (INCL, CLN1) locus at 1p32: incorporation of linkage disequilibrium in multipoint analysis. , 1993, Genomics.

[2]  J. Attwood,et al.  Fine genetic mapping of the Batten disease locus (CLN3) by haplotype analysis and demonstration of allelic association with chromosome 16p microsatellite loci. , 1993, Genomics.

[3]  R. Richards,et al.  Isolation and characterisation of (AC)n microsatellite genetic markers from human chromosome 16. , 1992, Genomics.

[4]  L. Peltonen,et al.  An Alu variable polyA repeat polymorphism upstream of L-myc at 1p32. , 1992, Human molecular genetics.

[5]  R. Berger,et al.  Regional mapping of the Batten disease locus (CLN3) to human chromosome 16p12. , 1991, American journal of human genetics.

[6]  X. Breakefield,et al.  Dinucleotide repeat polymorphism (D16S285) on human chromosome 16. , 1991, Nucleic acids research.

[7]  I. Järvelä.  Infantile neuronal ceroid lipofuscinosis (CLN1): linkage disequilibrium in the Finnish population and evidence that variant late infantile form (variant CLN2) represents a nonallelic locus. , 1991, Genomics.

[8]  B. Lake,et al.  Lysosomal storage of subunit c of mitochondrial ATP synthase in Batten's disease (ceroid-lipofuscinosis). , 1991, The Biochemical journal.

[9]  L. Peltonen,et al.  Infantile form of neuronal ceroid lipofuscinosis (CLN1) maps to the short arm of chromosome 1. , 1991, Genomics.

[10]  L. Peltonen,et al.  Batten disease (Spielmeyer-Vogt disease, juvenile onset neuronal ceroid-lipofuscinosis) gene (CLN3) maps to human chromosome 16. , 1990, Genomics.

[11]  J. Ott,et al.  Multilocus linkage analysis in humans: detection of linkage and estimation of recombination. , 1985, American journal of human genetics.

[12]  K. Sainio,et al.  A Variant of Jansky-Bielschowsky Disease , 1982, Neuropediatrics.

[13]  B. Lake,et al.  Early-juvenile Batten's disease — A recognisable sub-group distinct from other forms of Batten's disease Analysis of 5 patients , 1978, Journal of the Neurological Sciences.

[14]  J. Rapola,et al.  Infantile Type of So‐called Neuronal Ceroid‐lipofuscinosis , 1973, Journal of the neurological sciences.