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Title: Application of chromosome 16 markers in the differential diagnosis of neuronal ceroid-lipofuscinosis

Abstract

Accurate diagnosis of neuronal ceroid lipofuscinosis (NCL) is important for a correct prognosis of the disease and for genetic counseling. Up to now, no direct diagnostic test has been available for NCL. The clinical diagnosis is made on the basis of symptoms, neurophysiological, neuroradiological, and specific lipopigment pattern data. Recent advances in the genetics of NCL have enabled us to use polymorphic DNA markers linked to the CLN1 and CLN3 loci as a tool in the differential diagnosis of NCL. We have applied genetic analysis with polymorphic DNA markers flanking the CLN3 gene on chromosome 16 to two consanguineous families in which NCL occurs. In the first family, which is of Turkish extraction, two patients suffering from a protracted form of juvenile NCL previously had been diagnosed with juvenile NCL. Haplotypes from this family indicate that the patients and their healthy sibling are haplo-identical, suggesting that this protracted form of juvenile NCL is not linked to the CLN3 locus. In the second family, which is Moroccan origin, one patient suffers from the early juvenile variant of NCL (Lake-Cavanagh). In this family, the patient and one of the healthy siblings have identical haplotypes, excluding linkage of early juvenile NCL to themore » CLN3 locus on 16p12.1-11.2. Therefore, these cases from different populations demonstrate that haplotype analysis can be used as an additional method to exclude the diagnosis of juvenile NCL. 21 refs., 4 figs., 1 tab.« less

Authors:
; ;  [1]
  1. Leiden Univ. (Netherlands); and others
Publication Date:
Sponsoring Org.:
USDOE
OSTI Identifier:
105197
Report Number(s):
CONF-9405333-
Journal ID: AJMGDA; ISSN 0148-7299; CNN: Grant NS30152; TRN: 95:006226-0008
Resource Type:
Journal Article
Journal Name:
American Journal of Medical Genetics
Additional Journal Information:
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
Country of Publication:
United States
Language:
English
Subject:
55 BIOLOGY AND MEDICINE, BASIC STUDIES; PATIENTS; NERVOUS SYSTEM DISEASES; HEREDITARY DISEASES; GENES; DIAGNOSIS; HUMAN CHROMOSOME 16; GENETIC MAPPING; BIOLOGICAL MARKERS; GENETICS

Citation Formats

Taschner, P E.M., Vos, N de, and Breuning, M H. Application of chromosome 16 markers in the differential diagnosis of neuronal ceroid-lipofuscinosis. United States: N. p., 1995. Web. doi:10.1002/ajmg.1320570247.
Taschner, P E.M., Vos, N de, & Breuning, M H. Application of chromosome 16 markers in the differential diagnosis of neuronal ceroid-lipofuscinosis. United States. https://doi.org/10.1002/ajmg.1320570247
Taschner, P E.M., Vos, N de, and Breuning, M H. 1995. "Application of chromosome 16 markers in the differential diagnosis of neuronal ceroid-lipofuscinosis". United States. https://doi.org/10.1002/ajmg.1320570247.
@article{osti_105197,
title = {Application of chromosome 16 markers in the differential diagnosis of neuronal ceroid-lipofuscinosis},
author = {Taschner, P E.M. and Vos, N de and Breuning, M H},
abstractNote = {Accurate diagnosis of neuronal ceroid lipofuscinosis (NCL) is important for a correct prognosis of the disease and for genetic counseling. Up to now, no direct diagnostic test has been available for NCL. The clinical diagnosis is made on the basis of symptoms, neurophysiological, neuroradiological, and specific lipopigment pattern data. Recent advances in the genetics of NCL have enabled us to use polymorphic DNA markers linked to the CLN1 and CLN3 loci as a tool in the differential diagnosis of NCL. We have applied genetic analysis with polymorphic DNA markers flanking the CLN3 gene on chromosome 16 to two consanguineous families in which NCL occurs. In the first family, which is of Turkish extraction, two patients suffering from a protracted form of juvenile NCL previously had been diagnosed with juvenile NCL. Haplotypes from this family indicate that the patients and their healthy sibling are haplo-identical, suggesting that this protracted form of juvenile NCL is not linked to the CLN3 locus. In the second family, which is Moroccan origin, one patient suffers from the early juvenile variant of NCL (Lake-Cavanagh). In this family, the patient and one of the healthy siblings have identical haplotypes, excluding linkage of early juvenile NCL to the CLN3 locus on 16p12.1-11.2. Therefore, these cases from different populations demonstrate that haplotype analysis can be used as an additional method to exclude the diagnosis of juvenile NCL. 21 refs., 4 figs., 1 tab.},
doi = {10.1002/ajmg.1320570247},
url = {https://www.osti.gov/biblio/105197}, journal = {American Journal of Medical Genetics},
number = 2,
volume = 57,
place = {United States},
year = {Mon Jun 05 00:00:00 EDT 1995},
month = {Mon Jun 05 00:00:00 EDT 1995}
}