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Title: Linkage analysis of late-infantile neuronal ceroid-lipofuscinosis

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.
Authors:
; ;  [1]
  1. Rayne Institute, London (United Kingdom) [and others
Publication Date:
OSTI Identifier:
105199
Report Number(s):
CONF-9405333-
Journal ID: AJMGDA; ISSN 0148-7299; TRN: 95:006226-0010
Resource Type:
Journal Article
Resource Relation:
Journal Name: American Journal of Medical Genetics; Journal Volume: 57; Journal Issue: 2; Conference: 5. international conference on neuronal ceroid-lipofuscinoses, Staten Island, NY (United States), 19-21 May 1994; Other Information: PBD: 5 Jun 1995
Sponsoring Org:
USDOE
Country of Publication:
United States
Language:
English
Subject:
55 BIOLOGY AND MEDICINE, BASIC STUDIES; PATIENTS; NERVOUS SYSTEM DISEASES; HEREDITARY DISEASES; GENES; PATHOGENESIS; HUMAN CHROMOSOME 16; GENETIC MAPPING; HUMAN CHROMOSOME 1; HUMAN CHROMOSOME 13; BIOLOGICAL MARKERS; STATISTICS; GENETICS; RECESSIVE MUTATIONS; POLYMERASE CHAIN REACTION; COMPUTER CODES