Article
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.
American journal of human genetics - 1 Oct 1993
Williams R, Vesa J, Järvelä I, McKay T, Mitchison H, Hellsten E, Thompson A, Callen D, Sutherland G, Luna-Battadano D
Abstract excerpt
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...
Topics
- Alleles
- Child, Preschool
- Chromosomes, Human, Pair 1
- Chromosomes, Human, Pair 16
- Female
- Genetic Linkage
- Humans
- Infant
- Male
- Neuronal Ceroid-Lipofuscinoses