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. 1993 Oct;53(4):931–935.

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

Ruth Williams, Jouni Vesa, Irma Järvelä, Tristan McKay, Hannah Mitchison, Elina Hellsten, Andrew Thompson, David Callen, Grant Sutherland, David Luna-Battadano, Ray Stallings, Leena Peltonen, Mark Gardiner
PMCID: PMC1682401  PMID: 8213822

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.

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Selected References

These references are in PubMed. This may not be the complete list of references from this article.

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