Linkage analysis of late-infantile neuronal ceroid-lipofuscinosis
Journal Article
·
· American Journal of Medical Genetics
- Rayne Institute, London (United Kingdom); and others
The neuronal ceroid-lipofuscinoses (NCL) are a group of neurodegenerative disorders with an autosomal-recessive pattern of inheritance. There are 3 main categories of childhood NCL, namely, infantile, late-infantile, and juvenile NCL. These can be distinguished on the basis of age of onset, clinical course, and histopathology. A number of variant forms of NCL have also been mapped to chromosome areas 1p32 and 16p12, respectively. The gene for late-infantile NCL (LINCL), CLN2, has been excluded from both these loci, but its location is as yet unknown. Recently, CLN5, the gene for the Finnish variant form of LINCL, was mapped to 13q21.1-32. Using the 3 microsatellite markers which were most tightly linked to CLN5, we have excluded CLN2 from this region using a subset of 17 families. Thus, CLN2 represents a fourth distinct genetic locus involved in the pathogenesis of NCL. 6 refs., 1 fig., 1 tab.
- Sponsoring Organization:
- USDOE
- OSTI ID:
- 105199
- Report Number(s):
- CONF-9405333---
- Journal Information:
- American Journal of Medical Genetics, Journal Name: American Journal of Medical Genetics Journal Issue: 2 Vol. 57; ISSN 0148-7299; ISSN AJMGDA
- Country of Publication:
- United States
- Language:
- English
Similar Records
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
A variant form of late infantile neuronal ceroid lipofuscinosis (CLN5) is not an allelic form of batten (Spielmeyer-Vogt-Sjoegren, CLN3) disease: Exclusion of linkage to the CLN3 region of chromosome 16
Defined chromosomal assignment of CLN5 demonstrates that at least four genetic loci are involved in the pathogenesis of human ceroid lipofuscinoses
Journal Article
·
Fri Oct 01 00:00:00 EDT 1993
· American Journal of Human Genetics; (United States)
·
OSTI ID:5136015
A variant form of late infantile neuronal ceroid lipofuscinosis (CLN5) is not an allelic form of batten (Spielmeyer-Vogt-Sjoegren, CLN3) disease: Exclusion of linkage to the CLN3 region of chromosome 16
Journal Article
·
Mon Mar 14 23:00:00 EST 1994
· Genomics; (United States)
·
OSTI ID:6822515
Defined chromosomal assignment of CLN5 demonstrates that at least four genetic loci are involved in the pathogenesis of human ceroid lipofuscinoses
Journal Article
·
Sat Oct 01 00:00:00 EDT 1994
· American Journal of Human Genetics
·
OSTI ID:35502