Infantile neuronal ceroid lipofuscinosis (CLN1): linkage disequilibrium in the Finnish population and evidence that variant late infantile form (variant CLN2) represents a nonallelic locus.

Abstract excerpt

Two forms of neuronal ceroid lipofuscinosis (CLN) are enriched in the Finnish population: the infantile form (CLN1), which is the most common progressive encephalopathy of small children, and the variant late infantile form (variant CLN2), which is a rare, atypical form of neuronal ceroid lipofuscinosis. We recently established the linkage of the infantile form (CLN1) to the short arm of chromosome 1 close to the...

Topics

• Alleles
• Chromosomes, Human, Pair 1
• Finland
• Genetic Markers
• Genetic Variation
• Haplotypes
• Humans
• Infant, Newborn
• Linkage Disequilibrium
• Lod Score
• Mutation